pág. 3328
HEREDITARY HEMORRHAGIC
TELANGIECTASIA PRESENTING WITH
MULTISYSTEM INVOLVEMENT AND
DELAYED DIAGNOSIS: A CASE REPORT
TELANGIECTASIA HEMORRÁGICA HEREDITARIA CON
AFECTACIÓN MULTISISTÉMICA Y DIAGNÓSTICO TARDÍO:
INFORME DE UN CASO
Christian David Galindo Borda
Corporación Universitaria Remington
Maximiliano Ortega Lasso
Hospital General de Medellín
Vanessa Fonseca Orozco
Universidad EAFIT
Juan Manuel Rivera Díez
Fundación Universitaria San Martín
Daniel Torres Martínez
Universidad Cooperativa de Colombia
pág. 3329
DOI: https://doi.org/10.37811/cl_rcm.v10i2.23371
Hereditary Hemorrhagic Telangiectasia Presenting with Multisystem
Involvement and Delayed Diagnosis: A Case Report
Christian David Galindo Borda1
christiandavidgal95@gmail.com
Corporación Universitaria Remington
Calle 51 #49-35, Medellín, Antioquia, Colombia
Maximiliano Ortega Lasso
ximax31@hotmail.com
Hospital General de Medellín
Calle 44 #46-66, Medellín, Antioquia, Colombia
Vanessa Fonseca Orozco
vfonsecaorozco@gmail.com
Universidad EAFIT
Carrera 49 #7 Sur-50, Medellín, Antioquia,
Colombia
Juan Manuel Rivera Díez
rdiez12juan@gmail.com
Fundación Universitaria San Martín
Carrera 50 #49-35, Medellín, Antioquia,
Colombia
Daniel Torres Martínez
dantor357@gmail.com
Universidad Cooperativa de Colombia
Calle 50 #48-42, Medellín, Antioquia, Colombia
1 Autor principal
Correspondencia: christiandavidgal95@gmail.com
DOI: https://doi.org/10.37811/cl_rcm.v10i2.23371
Hereditary Hemorrhagic Telangiectasia Presenting with Multisystem
Involvement and Delayed Diagnosis: A Case Report
Christian David Galindo Borda1
christiandavidgal95@gmail.com
Corporación Universitaria Remington
Calle 51 #49-35, Medellín, Antioquia, Colombia
Maximiliano Ortega Lasso
ximax31@hotmail.com
Hospital General de Medellín
Calle 44 #46-66, Medellín, Antioquia, Colombia
Vanessa Fonseca Orozco
vfonsecaorozco@gmail.com
Universidad EAFIT
Carrera 49 #7 Sur-50, Medellín, Antioquia,
Colombia
Juan Manuel Rivera Díez
rdiez12juan@gmail.com
Fundación Universitaria San Martín
Carrera 50 #49-35, Medellín, Antioquia,
Colombia
Daniel Torres Martínez
dantor357@gmail.com
Universidad Cooperativa de Colombia
Calle 50 #48-42, Medellín, Antioquia, Colombia
1 Autor principal
Correspondencia: christiandavidgal95@gmail.com
pág. 3330
ABSTRACT
Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is a rare multisystemic
vascular disorder that often goes underdiagnosed, particularly in low- and middle-income countries.
This case is notable for its extensive systemic involvement, psychiatric comorbidity, and the patient’s
request for euthanasia—underscoring the significant physical and psychosocial burden associated with
HHT. It highlights the crucial role of clinical diagnostic criteria in the absence of genetic testing and
illustrates the complexity of managing HHT in a patient with advanced comorbid conditions. We present
the case of a 52-year-old woman from Medellín, Colombia, with a history of end-stage renal disease on
peritoneal dialysis, who was admitted with severe anemia and recurrent spontaneous epistaxis. On
examination, mucocutaneous telangiectasias were observed on the lips, tongue, and hands. The patient
reported long-standing bleeding episodes, transfusion dependence, and a family history of similar
symptoms. She also exhibited depressive symptoms with suicidal ideation. Laboratory studies
confirmed chronic iron-deficiency anemia, and abdominal MRI revealed hepatic arteriovenous
malformations. Peritoneal fluid culture confirmed catheter-associated peritonitis due to Enterobacter
species, which responded to antibiotic therapy. Based on the presence of recurrent epistaxis,
telangiectasias, visceral involvement, and a positive family history, the patient fulfilled all four Curaçao
diagnostic criteria for HHT. She was stabilized with blood transfusions, broad-spectrum antibiotics, and
psychiatric intervention, including sertraline and cognitive-behavioral therapy. Antiangiogenic
treatment was considered but not yet initiated. This case underscores the importance of early clinical
recognition of HHT using the Curaçao criteria, especially where genetic testing is unavailable. It also
highlights the need for comprehensive, multidisciplinary management that includes mental health
support. The patient's request for euthanasia in the context of untreated depressive symptoms reveals the
profound psychosocial impact of this condition. Increased awareness, timely diagnosis, and integrated
biopsychosocial care are essential to improve outcomes and quality of life in patients with hereditary
hemorrhagic telangiectasia.
Keywords: Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu Syndrome, Arteriovenous
Malformations, Epistaxis, Anemia, Chronic Kidney Disease, Peritoneal Dialysis, Depression, Delayed
Diagnosis, Case Reports.
ABSTRACT
Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu syndrome, is a rare multisystemic
vascular disorder that often goes underdiagnosed, particularly in low- and middle-income countries.
This case is notable for its extensive systemic involvement, psychiatric comorbidity, and the patient’s
request for euthanasia—underscoring the significant physical and psychosocial burden associated with
HHT. It highlights the crucial role of clinical diagnostic criteria in the absence of genetic testing and
illustrates the complexity of managing HHT in a patient with advanced comorbid conditions. We present
the case of a 52-year-old woman from Medellín, Colombia, with a history of end-stage renal disease on
peritoneal dialysis, who was admitted with severe anemia and recurrent spontaneous epistaxis. On
examination, mucocutaneous telangiectasias were observed on the lips, tongue, and hands. The patient
reported long-standing bleeding episodes, transfusion dependence, and a family history of similar
symptoms. She also exhibited depressive symptoms with suicidal ideation. Laboratory studies
confirmed chronic iron-deficiency anemia, and abdominal MRI revealed hepatic arteriovenous
malformations. Peritoneal fluid culture confirmed catheter-associated peritonitis due to Enterobacter
species, which responded to antibiotic therapy. Based on the presence of recurrent epistaxis,
telangiectasias, visceral involvement, and a positive family history, the patient fulfilled all four Curaçao
diagnostic criteria for HHT. She was stabilized with blood transfusions, broad-spectrum antibiotics, and
psychiatric intervention, including sertraline and cognitive-behavioral therapy. Antiangiogenic
treatment was considered but not yet initiated. This case underscores the importance of early clinical
recognition of HHT using the Curaçao criteria, especially where genetic testing is unavailable. It also
highlights the need for comprehensive, multidisciplinary management that includes mental health
support. The patient's request for euthanasia in the context of untreated depressive symptoms reveals the
profound psychosocial impact of this condition. Increased awareness, timely diagnosis, and integrated
biopsychosocial care are essential to improve outcomes and quality of life in patients with hereditary
hemorrhagic telangiectasia.
Keywords: Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu Syndrome, Arteriovenous
Malformations, Epistaxis, Anemia, Chronic Kidney Disease, Peritoneal Dialysis, Depression, Delayed
Diagnosis, Case Reports.
pág. 3331
Telangiectasia hemorrágica hereditaria con afectación multisistémica y
diagnóstico tardío: informe de un caso
RESUMEN
La telangiectasia hemorrágica hereditaria (HHT), o síndrome de Osler-Weber-Rendu, es un trastorno
vascular multisistémico poco frecuente que a menudo pasa desapercibido, especialmente en países de
ingresos bajos y medios. Este caso destaca por su amplia afectación sistémica, la comorbilidad
psiquiátrica y la solicitud de eutanasia por parte de la paciente, lo que pone de relieve la importante
carga física y psicosocial asociada a la HHT. Destaca el papel crucial de los criterios de diagnóstico
clínico en ausencia de pruebas genéticas e ilustra la complejidad del manejo de la HHT en una paciente
con comorbilidades avanzadas. Presentamos el caso de una mujer de 52 años de Medellín, Colombia,
con antecedentes de enfermedad renal terminal en diálisis peritoneal, que ingresó con anemia grave y
epistaxis espontánea recurrente. En la exploración física se observaron telangiectasias mucocutáneas en
los labios, la lengua y las manos. La paciente refería episodios hemorrágicos de larga duración,
dependencia de transfusiones y antecedentes familiares de síntomas similares. También exhibía síntomas
depresivos con ideas suicidas. Los análisis de laboratorio confirmaron una anemia ferropénica crónica,
y la resonancia magnética abdominal reveló malformaciones arteriovenosas hepáticas. El cultivo del
líquido peritoneal confirmó una peritonitis asociada al catéter causada por especies de Enterobacter, que
respondió al tratamiento antibiótico. Dada la presencia de epistaxis recurrentes, telangiectasias,
afectación visceral y antecedentes familiares positivos, la paciente cumplía los cuatro criterios
diagnósticos de Curazao para el HHT. Se logró estabilizarla mediante transfusiones de sangre,
antibióticos de amplio espectro e intervención psiquiátrica, que incluyó sertralina y terapia cognitivo-
conductual. Se consideró el tratamiento antiangiogénico, pero aún no se ha iniciado. Este caso subraya
la importancia del reconocimiento clínico precoz de la HHT utilizando los criterios de Curazao,
especialmente cuando no se dispone de pruebas genéticas. También destaca la necesidad de un manejo
integral y multidisciplinar que incluya apoyo en salud mental. La solicitud de eutanasia por parte de la
paciente en el contexto de síntomas depresivos no tratados revela el profundo impacto psicosocial de
esta afección. Una mayor concienciación, un diagnóstico oportuno y una atención biopsicosocial
integrada son esenciales para mejorar los resultados y la calidad de vida de los pacientes con
telangiectasia hemorrágica hereditaria.
Palabras clave: Telangiectasia hemorrágica hereditaria, síndrome de Osler-Weber-Rendu,
malformaciones arteriovenosas, epistaxis, anemia, enfermedad renal crónica, diálisis peritoneal,
depresión, diagnóstico tardío, informes de casos.
Telangiectasia hemorrágica hereditaria con afectación multisistémica y
diagnóstico tardío: informe de un caso
RESUMEN
La telangiectasia hemorrágica hereditaria (HHT), o síndrome de Osler-Weber-Rendu, es un trastorno
vascular multisistémico poco frecuente que a menudo pasa desapercibido, especialmente en países de
ingresos bajos y medios. Este caso destaca por su amplia afectación sistémica, la comorbilidad
psiquiátrica y la solicitud de eutanasia por parte de la paciente, lo que pone de relieve la importante
carga física y psicosocial asociada a la HHT. Destaca el papel crucial de los criterios de diagnóstico
clínico en ausencia de pruebas genéticas e ilustra la complejidad del manejo de la HHT en una paciente
con comorbilidades avanzadas. Presentamos el caso de una mujer de 52 años de Medellín, Colombia,
con antecedentes de enfermedad renal terminal en diálisis peritoneal, que ingresó con anemia grave y
epistaxis espontánea recurrente. En la exploración física se observaron telangiectasias mucocutáneas en
los labios, la lengua y las manos. La paciente refería episodios hemorrágicos de larga duración,
dependencia de transfusiones y antecedentes familiares de síntomas similares. También exhibía síntomas
depresivos con ideas suicidas. Los análisis de laboratorio confirmaron una anemia ferropénica crónica,
y la resonancia magnética abdominal reveló malformaciones arteriovenosas hepáticas. El cultivo del
líquido peritoneal confirmó una peritonitis asociada al catéter causada por especies de Enterobacter, que
respondió al tratamiento antibiótico. Dada la presencia de epistaxis recurrentes, telangiectasias,
afectación visceral y antecedentes familiares positivos, la paciente cumplía los cuatro criterios
diagnósticos de Curazao para el HHT. Se logró estabilizarla mediante transfusiones de sangre,
antibióticos de amplio espectro e intervención psiquiátrica, que incluyó sertralina y terapia cognitivo-
conductual. Se consideró el tratamiento antiangiogénico, pero aún no se ha iniciado. Este caso subraya
la importancia del reconocimiento clínico precoz de la HHT utilizando los criterios de Curazao,
especialmente cuando no se dispone de pruebas genéticas. También destaca la necesidad de un manejo
integral y multidisciplinar que incluya apoyo en salud mental. La solicitud de eutanasia por parte de la
paciente en el contexto de síntomas depresivos no tratados revela el profundo impacto psicosocial de
esta afección. Una mayor concienciación, un diagnóstico oportuno y una atención biopsicosocial
integrada son esenciales para mejorar los resultados y la calidad de vida de los pacientes con
telangiectasia hemorrágica hereditaria.
Palabras clave: Telangiectasia hemorrágica hereditaria, síndrome de Osler-Weber-Rendu,
malformaciones arteriovenosas, epistaxis, anemia, enfermedad renal crónica, diálisis peritoneal,
depresión, diagnóstico tardío, informes de casos.
pág. 3332
INTRODUCTION
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare
autosomal dominant vascular disorder characterized by defective angiogenesis, affecting the skin,
mucous membranes, and internal organs, particularly the lungs, liver, and brain [1]. At the molecular
level, HHT is associated with pathogenic mutations in the ENG, ACVRL1, SMAD4, and GDF2 genes,
which play a crucial role in the regulation of the transforming growth factor-beta (TGF-β) signaling
pathway in vascular endothelial cells. Disruption of this pathway leads to impaired vascular integrity,
abnormal endothelial proliferation, and the formation of fragile, dilated vessels, ultimately resulting in
the development of arteriovenous malformations (AVMs) that lack a normal capillary bed [2].
The estimated prevalence of HHT ranges from 1 in 5,000 to 8,000 individuals in North America,
although it is likely underdiagnosed, particularly in low- and middle-income countries due to limited
access to specialized diagnostic resources and low clinical suspicion [3]. No significant differences have
been reported based on sex or ethnicity. Clinically, HHT is characterized by recurrent spontaneous
epistaxis, which is often the earliest and most common manifestation, mucocutaneous telangiectasias
involving the lips, oral cavity, face, and extremities, and iron deficiency anemia secondary to chronic
blood loss. In addition, visceral AVMs may occur in the lungs, liver, brain, and gastrointestinal tract,
conferring a substantial risk of severe and potentially life-threatening complications such as hemorrhage,
stroke, high-output cardiac failure, and paradoxical embolism [4].
The diagnosis of HHT is primarily clinical and is based on the Curaçao criteria [5], which include
recurrent epistaxis, characteristic telangiectasias, visceral involvement due to AVMs, and a first-degree
family history of the disease. The presence of three or more criteria establishes a definite diagnosis,
while two criteria suggest a possible or suspected diagnosis [3]. Cerebral involvement has been reported
in up to 10–15% of patients, while pulmonary and hepatic AVMs are among the most clinically
significant manifestations due to their associated morbidity [6].
Management of HHT is largely supportive and focuses on controlling bleeding, preventing
complications, and treating organ-specific involvement. Therapeutic strategies include nasal
humidification, topical therapies, endoscopic procedures for epistaxis control, iron supplementation [7],
and blood transfusions in cases of severe anemia. In selected patients, systemic anti-angiogenic agents
INTRODUCTION
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare
autosomal dominant vascular disorder characterized by defective angiogenesis, affecting the skin,
mucous membranes, and internal organs, particularly the lungs, liver, and brain [1]. At the molecular
level, HHT is associated with pathogenic mutations in the ENG, ACVRL1, SMAD4, and GDF2 genes,
which play a crucial role in the regulation of the transforming growth factor-beta (TGF-β) signaling
pathway in vascular endothelial cells. Disruption of this pathway leads to impaired vascular integrity,
abnormal endothelial proliferation, and the formation of fragile, dilated vessels, ultimately resulting in
the development of arteriovenous malformations (AVMs) that lack a normal capillary bed [2].
The estimated prevalence of HHT ranges from 1 in 5,000 to 8,000 individuals in North America,
although it is likely underdiagnosed, particularly in low- and middle-income countries due to limited
access to specialized diagnostic resources and low clinical suspicion [3]. No significant differences have
been reported based on sex or ethnicity. Clinically, HHT is characterized by recurrent spontaneous
epistaxis, which is often the earliest and most common manifestation, mucocutaneous telangiectasias
involving the lips, oral cavity, face, and extremities, and iron deficiency anemia secondary to chronic
blood loss. In addition, visceral AVMs may occur in the lungs, liver, brain, and gastrointestinal tract,
conferring a substantial risk of severe and potentially life-threatening complications such as hemorrhage,
stroke, high-output cardiac failure, and paradoxical embolism [4].
The diagnosis of HHT is primarily clinical and is based on the Curaçao criteria [5], which include
recurrent epistaxis, characteristic telangiectasias, visceral involvement due to AVMs, and a first-degree
family history of the disease. The presence of three or more criteria establishes a definite diagnosis,
while two criteria suggest a possible or suspected diagnosis [3]. Cerebral involvement has been reported
in up to 10–15% of patients, while pulmonary and hepatic AVMs are among the most clinically
significant manifestations due to their associated morbidity [6].
Management of HHT is largely supportive and focuses on controlling bleeding, preventing
complications, and treating organ-specific involvement. Therapeutic strategies include nasal
humidification, topical therapies, endoscopic procedures for epistaxis control, iron supplementation [7],
and blood transfusions in cases of severe anemia. In selected patients, systemic anti-angiogenic agents
pág. 3333
such as bevacizumab have shown promising results, particularly in reducing bleeding severity and
transfusion requirements. Liver transplantation may be considered in cases of advanced hepatic
involvement with refractory high-output cardiac failure [8].
Given its heterogeneous clinical presentation, genetic complexity, and potential for multisystem
involvement, HHT requires a multidisciplinary approach involving specialists in hematology,
otolaryngology, gastroenterology, neurology, and interventional radiology. Here, we report the case of a
female patient with HHT, emphasizing the diagnostic challenges and therapeutic considerations
associated with this rare vascular disorder.
Case Presentation
A 52-year-old female from Medellín, Colombia, with a history of end-stage renal disease (ESRD) on
peritoneal dialysis since 2019, arterial hypertension (19 years), hyperlipidemia, and recently diagnosed
hypothyroidism, presented to the emergency department of Hospital General de Medellín on June 5,
2025, due to severe anemia requiring urgent transfusion and recurrent spontaneous right-sided epistaxis.
She reported progressive fatigue, generalized weakness, exertional dyspnea, dizziness, palpitations, and
mucocutaneous pallor over the previous weeks. Additionally, she described persistent sadness,
anhedonia, appetite and weight loss, and active suicidal ideation with a structured plan, exacerbated
during disabling epistaxis episodes.
On examination, the patient was pale, alert, oriented, and hemodynamically stable. The oral mucosa
appeared dry, and the peritoneal dialysis catheter was functional without signs of peritonitis. Physical
examination revealed multiple mucocutaneous telangiectasias on the lower lip, ventral tongue, and
fingertips (Figure 1 and Figure 2).
such as bevacizumab have shown promising results, particularly in reducing bleeding severity and
transfusion requirements. Liver transplantation may be considered in cases of advanced hepatic
involvement with refractory high-output cardiac failure [8].
Given its heterogeneous clinical presentation, genetic complexity, and potential for multisystem
involvement, HHT requires a multidisciplinary approach involving specialists in hematology,
otolaryngology, gastroenterology, neurology, and interventional radiology. Here, we report the case of a
female patient with HHT, emphasizing the diagnostic challenges and therapeutic considerations
associated with this rare vascular disorder.
Case Presentation
A 52-year-old female from Medellín, Colombia, with a history of end-stage renal disease (ESRD) on
peritoneal dialysis since 2019, arterial hypertension (19 years), hyperlipidemia, and recently diagnosed
hypothyroidism, presented to the emergency department of Hospital General de Medellín on June 5,
2025, due to severe anemia requiring urgent transfusion and recurrent spontaneous right-sided epistaxis.
She reported progressive fatigue, generalized weakness, exertional dyspnea, dizziness, palpitations, and
mucocutaneous pallor over the previous weeks. Additionally, she described persistent sadness,
anhedonia, appetite and weight loss, and active suicidal ideation with a structured plan, exacerbated
during disabling epistaxis episodes.
On examination, the patient was pale, alert, oriented, and hemodynamically stable. The oral mucosa
appeared dry, and the peritoneal dialysis catheter was functional without signs of peritonitis. Physical
examination revealed multiple mucocutaneous telangiectasias on the lower lip, ventral tongue, and
fingertips (Figure 1 and Figure 2).
pág. 3334
Figure 1: Mucocutaneous telangiectasias are observed on the lower lip and ventral surface of the tongue
Figure 1: Mucocutaneous telangiectasias are observed on the lower lip and ventral surface of the tongue
pág. 3335
Figure 2: Prominent telangiectasias are visible on the ventral surface of the tongue and floor of the
mouth, consistent with mucosal involvement in hereditary hemorrhagic telangiectasia
The patient reported a longstanding history of recurrent spontaneous epistaxis and chronic anemia,
necessitating multiple transfusions over recent months. Her family history was notable for first-degree
relatives (father and one sibling) with similar symptoms, including epistaxis and mucocutaneous
telangiectasias, suggesting a hereditary condition.
Laboratory tests on admission revealed severe normocytic normochromic anemia (hemoglobin 4.4
g/dL), iron deficiency, elevated creatinine and urea (consistent with ESRD), hyperkalemia,
hyperphosphatemia, hypoalbuminemia, and elevated inflammatory markers. Over the course of
hospitalization, she received a total of seven units of packed red blood cells. Table 1 summarizes the
evolution of hematologic parameters and inflammatory markers.
Figure 2: Prominent telangiectasias are visible on the ventral surface of the tongue and floor of the
mouth, consistent with mucosal involvement in hereditary hemorrhagic telangiectasia
The patient reported a longstanding history of recurrent spontaneous epistaxis and chronic anemia,
necessitating multiple transfusions over recent months. Her family history was notable for first-degree
relatives (father and one sibling) with similar symptoms, including epistaxis and mucocutaneous
telangiectasias, suggesting a hereditary condition.
Laboratory tests on admission revealed severe normocytic normochromic anemia (hemoglobin 4.4
g/dL), iron deficiency, elevated creatinine and urea (consistent with ESRD), hyperkalemia,
hyperphosphatemia, hypoalbuminemia, and elevated inflammatory markers. Over the course of
hospitalization, she received a total of seven units of packed red blood cells. Table 1 summarizes the
evolution of hematologic parameters and inflammatory markers.
pág. 3336
Table 1: Evolution of Hematologic and Inflammatory Markers in a Patient with Hereditary Hemorrhagic
Telangiectasia
Parameter
Reference
Range
Day 1 Day 2 Day 3 Day 5 Day 12 Day 14 Day 23 Day 24 Day 27
Hemoglobin
(g/dL)
13-17 4,4 6,5 7,3 8,1 8,6 7,6 4,6 6,4 7,4
Hematocrit (%) 36-45 13 19 21 23 24 22 14 18 22
Mean
Corpuscular
Volume (MCV)
(fL)
86-100 95,6 31,7 90,1 88,6 87,7 89,1 91,9 86,8 91,6
Red Cell
Distribution
Width (%)
0-15 15,4 16,2 15 14,3 14 14,8 15,3 15,5 14
White Blood
Cell (WBC)
(cell/μL)
3,8-11,8 6,600 6,400 5,500 7,300 7,300 9,700 22,600 16,800 11,800
Neutrophils
(cell/μL)
1,71-7,67 5,150 4,760 4,020 5,610 5,690 8,290 20,110 14,620 9,630
Platelets (PLT)
(cell/μL)
150-400 274.000 228.000 207.000 244.000 275.000 275.000 582.000 414.000 435.000
Serial laboratory tests revealed persistent severe normocytic normochromic anemia with elevated RDW
and intermittent leukocytosis, consistent with chronic blood loss and an associated inflammatory
response.
Based on recurrent epistaxis, mucocutaneous telangiectasias, hepatic arteriovenous malformations
(AVMs), and positive family history, the patient met all four Curaçao criteria, confirming the clinical
diagnosis of hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome).
Table 1: Evolution of Hematologic and Inflammatory Markers in a Patient with Hereditary Hemorrhagic
Telangiectasia
Parameter
Reference
Range
Day 1 Day 2 Day 3 Day 5 Day 12 Day 14 Day 23 Day 24 Day 27
Hemoglobin
(g/dL)
13-17 4,4 6,5 7,3 8,1 8,6 7,6 4,6 6,4 7,4
Hematocrit (%) 36-45 13 19 21 23 24 22 14 18 22
Mean
Corpuscular
Volume (MCV)
(fL)
86-100 95,6 31,7 90,1 88,6 87,7 89,1 91,9 86,8 91,6
Red Cell
Distribution
Width (%)
0-15 15,4 16,2 15 14,3 14 14,8 15,3 15,5 14
White Blood
Cell (WBC)
(cell/μL)
3,8-11,8 6,600 6,400 5,500 7,300 7,300 9,700 22,600 16,800 11,800
Neutrophils
(cell/μL)
1,71-7,67 5,150 4,760 4,020 5,610 5,690 8,290 20,110 14,620 9,630
Platelets (PLT)
(cell/μL)
150-400 274.000 228.000 207.000 244.000 275.000 275.000 582.000 414.000 435.000
Serial laboratory tests revealed persistent severe normocytic normochromic anemia with elevated RDW
and intermittent leukocytosis, consistent with chronic blood loss and an associated inflammatory
response.
Based on recurrent epistaxis, mucocutaneous telangiectasias, hepatic arteriovenous malformations
(AVMs), and positive family history, the patient met all four Curaçao criteria, confirming the clinical
diagnosis of hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome).
pág. 3337
On day 13 of hospitalization, the patient developed diffuse abdominal pain with mild guarding.
Exploratory laparoscopy revealed purulent pelvic fluid, a 6 cm right adnexal mass, and an edematous
cecal appendix without signs of necrosis or perforation. The peritoneal dialysis catheter was correctly
positioned in the pelvis.
Peritoneal fluid analysis showed turbid, mucous content with elevated protein (3.3 g/dL), decreased
albumin (1.0 g/dL), and leukocytosis with >250 cells/mm³. Gram stain revealed gram-negative bacilli,
and cultures confirmed Enterobacter species, establishing the diagnosis of peritoneal dialysis-associated
peritonitis. The patient was treated with intravenous cefepime (1 g daily for 14 days) and vancomycin
(500 mg every 48 hours for 10 days), achieving clinical improvement (Table 2).
Table 2: Laboratory Cytochemical Analysis of Peritoneal Fluid Table
Parameter Reference Value Result
Proteins in Fluid Transudate: 0-3 g/dL | Exudate: 3-20 g/dL 3.3 g/dL
Albumin in
Fluid
>1.1 g/dL suggests transudate; ≤1.1 g/dL
suggests exudate
1 g/dL
Color of Fluid Clear and straw-colored Yellow
Appearance of
Fluid
Clear Turbid
Erythrocyte
Count
<100,000 cells/μL
Purulent sample with mucus clots. 100
cells/mm³
Leukocyte
Count
<250 cells/mm³ and <50% PMNs
Purulent sample with mucus clots. >250
cells/mm³, ~50% PMNs
Gram Stain of
Fluid
No microorganisms observed
Gram-negative bacilli observed:
Enterobacter species
Peritoneal fluid analysis showed turbid mucous content, increased protein levels, decreased albumin,
and no organisms on Gram stain. Subsequent cultures grew gram-negative bacilli (Enterobacter species),
confirming peritonitis associated with the dialysis catheter.
On day 13 of hospitalization, the patient developed diffuse abdominal pain with mild guarding.
Exploratory laparoscopy revealed purulent pelvic fluid, a 6 cm right adnexal mass, and an edematous
cecal appendix without signs of necrosis or perforation. The peritoneal dialysis catheter was correctly
positioned in the pelvis.
Peritoneal fluid analysis showed turbid, mucous content with elevated protein (3.3 g/dL), decreased
albumin (1.0 g/dL), and leukocytosis with >250 cells/mm³. Gram stain revealed gram-negative bacilli,
and cultures confirmed Enterobacter species, establishing the diagnosis of peritoneal dialysis-associated
peritonitis. The patient was treated with intravenous cefepime (1 g daily for 14 days) and vancomycin
(500 mg every 48 hours for 10 days), achieving clinical improvement (Table 2).
Table 2: Laboratory Cytochemical Analysis of Peritoneal Fluid Table
Parameter Reference Value Result
Proteins in Fluid Transudate: 0-3 g/dL | Exudate: 3-20 g/dL 3.3 g/dL
Albumin in
Fluid
>1.1 g/dL suggests transudate; ≤1.1 g/dL
suggests exudate
1 g/dL
Color of Fluid Clear and straw-colored Yellow
Appearance of
Fluid
Clear Turbid
Erythrocyte
Count
<100,000 cells/μL
Purulent sample with mucus clots. 100
cells/mm³
Leukocyte
Count
<250 cells/mm³ and <50% PMNs
Purulent sample with mucus clots. >250
cells/mm³, ~50% PMNs
Gram Stain of
Fluid
No microorganisms observed
Gram-negative bacilli observed:
Enterobacter species
Peritoneal fluid analysis showed turbid mucous content, increased protein levels, decreased albumin,
and no organisms on Gram stain. Subsequent cultures grew gram-negative bacilli (Enterobacter species),
confirming peritonitis associated with the dialysis catheter.
pág. 3338
Thoracoabdominal magnetic resonance imaging (MRI) revealed multiple abnormal vascular structures
within the hepatic parenchyma consistent with AVMs, including tortuous, dilated vessels indicating
direct arteriovenous communication (Figures 3 and 4).
Figure 3: Coronal MRI Image of the Abdomen Demonstrating Hepatic Arteriovenous Malformation.
This coronal section of an abdominal MRI reveals abnormal vascular structures within the hepatic
parenchyma, consistent with a hepatic arteriovenous malformation (AVM). The image demonstrates
tortuous and dilated vascular channels suggestive of direct arterial-venous communication, which is a
typical visceral manifestation of hereditary hemorrhagic telangiectasia (HHT).
Thoracoabdominal magnetic resonance imaging (MRI) revealed multiple abnormal vascular structures
within the hepatic parenchyma consistent with AVMs, including tortuous, dilated vessels indicating
direct arteriovenous communication (Figures 3 and 4).
Figure 3: Coronal MRI Image of the Abdomen Demonstrating Hepatic Arteriovenous Malformation.
This coronal section of an abdominal MRI reveals abnormal vascular structures within the hepatic
parenchyma, consistent with a hepatic arteriovenous malformation (AVM). The image demonstrates
tortuous and dilated vascular channels suggestive of direct arterial-venous communication, which is a
typical visceral manifestation of hereditary hemorrhagic telangiectasia (HHT).
pág. 3339
Figure 4: Axial MRI Image of the Abdomen Demonstrating Hepatic Arteriovenous Malformation
This axial view of an abdominal MRI reveals multiple dilated vascular channels within the liver
parenchyma, consistent with a hepatic arteriovenous malformation (AVM). The presence of tortuous
vessels without intervening capillary beds suggests direct arterio-venous communication, a hallmark
finding in visceral involvement of hereditary hemorrhagic telangiectasia (HHT).
Given her psychiatric symptoms, including major depressive features and suicidal ideation, sertraline
50 mg daily and cognitive-behavioral therapy (CBT) were initiated. The patient formally requested
euthanasia, which was addressed through institutional legal protocols, and comprehensive psychosocial
support was provided.
At the time of reporting, the patient remained afebrile, hemodynamically stable, and clinically improved.
She continues under multidisciplinary care involving nephrology, internal medicine, psychiatry, and
psychology, with follow-up arranged for specialized HHT management.
Figure 4: Axial MRI Image of the Abdomen Demonstrating Hepatic Arteriovenous Malformation
This axial view of an abdominal MRI reveals multiple dilated vascular channels within the liver
parenchyma, consistent with a hepatic arteriovenous malformation (AVM). The presence of tortuous
vessels without intervening capillary beds suggests direct arterio-venous communication, a hallmark
finding in visceral involvement of hereditary hemorrhagic telangiectasia (HHT).
Given her psychiatric symptoms, including major depressive features and suicidal ideation, sertraline
50 mg daily and cognitive-behavioral therapy (CBT) were initiated. The patient formally requested
euthanasia, which was addressed through institutional legal protocols, and comprehensive psychosocial
support was provided.
At the time of reporting, the patient remained afebrile, hemodynamically stable, and clinically improved.
She continues under multidisciplinary care involving nephrology, internal medicine, psychiatry, and
psychology, with follow-up arranged for specialized HHT management.
pág. 3340
Written informed consent was obtained from the patient for publication of this case report and
accompanying clinical images.
Discussion
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare
autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias, recurrent
bleeding, and visceral arteriovenous malformations (AVMs) primarily affecting the gastrointestinal
tract, lungs, liver, and brain [9]. Despite its well-defined clinical phenotype, diagnosis is often delayed
due to variable expressivity, overlap with other bleeding disorders, and limited awareness among both
healthcare professionals and the general population . A retrospective study in Italy reported an average
diagnostic delay of over 20 years, highlighting the importance of early clinical suspicion-particularly in
patients with recurrent epistaxis and a positive family history [10]. In this case, a 52-year-old woman
with end-stage chronic kidney disease presented with severe, potentially life-threatening anemia
secondary to spontaneous recurrent epistaxis and mucosal bleeding. Her clinical features-including
mucocutaneous telangiectasias, recurrent nosebleeds, visceral AVMs, and a positive family history-
fulfilled all four Curaçao criterio [11], confirming the clinical diagnosis of HHT. These criteria,
established by the HHT Foundation International, remain an essential diagnostic tool, particularly in
low-resource settings where access to genetic testing may be limited. The presence of three or more
criteria indicates a definite diagnosis; two criteria suggest a probable diagnosis, while one or none make
the diagnosis unlikely . Although rare false negatives may occur even in the presence of genetic
mutations (ENG, ACVRL1, or SMAD4), the Curaçao criteria maintain high clinical utility [11]. Given
the clinical heterogeneity of HHT, a comprehensive and systematic evaluation is required. In our patient,
AVMs were identified in the gastrointestinal tract and pulmonary vasculature, a distribution frequently
reported in the literature [12]. Gastrointestinal lesions tend to predominate in proximal segments
(stomach, duodenum, jejunum), may remain occult for years, and often require diagnostic modalities
such as endoscopy, capsule endoscopy, or double-balloon enteroscopy for detection . Pulmonary AVMs,
present in over 40% of cases, should be screened with contrast echocardiography and confirmed with
high-resolution thoracic CT [13]. In this patient, thoracoabdominal magnetic resonance imaging (MRI)
was preferred due to the risk of contrast-induced nephrotoxicity in the context of advanced renal disease.
Written informed consent was obtained from the patient for publication of this case report and
accompanying clinical images.
Discussion
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare
autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias, recurrent
bleeding, and visceral arteriovenous malformations (AVMs) primarily affecting the gastrointestinal
tract, lungs, liver, and brain [9]. Despite its well-defined clinical phenotype, diagnosis is often delayed
due to variable expressivity, overlap with other bleeding disorders, and limited awareness among both
healthcare professionals and the general population . A retrospective study in Italy reported an average
diagnostic delay of over 20 years, highlighting the importance of early clinical suspicion-particularly in
patients with recurrent epistaxis and a positive family history [10]. In this case, a 52-year-old woman
with end-stage chronic kidney disease presented with severe, potentially life-threatening anemia
secondary to spontaneous recurrent epistaxis and mucosal bleeding. Her clinical features-including
mucocutaneous telangiectasias, recurrent nosebleeds, visceral AVMs, and a positive family history-
fulfilled all four Curaçao criterio [11], confirming the clinical diagnosis of HHT. These criteria,
established by the HHT Foundation International, remain an essential diagnostic tool, particularly in
low-resource settings where access to genetic testing may be limited. The presence of three or more
criteria indicates a definite diagnosis; two criteria suggest a probable diagnosis, while one or none make
the diagnosis unlikely . Although rare false negatives may occur even in the presence of genetic
mutations (ENG, ACVRL1, or SMAD4), the Curaçao criteria maintain high clinical utility [11]. Given
the clinical heterogeneity of HHT, a comprehensive and systematic evaluation is required. In our patient,
AVMs were identified in the gastrointestinal tract and pulmonary vasculature, a distribution frequently
reported in the literature [12]. Gastrointestinal lesions tend to predominate in proximal segments
(stomach, duodenum, jejunum), may remain occult for years, and often require diagnostic modalities
such as endoscopy, capsule endoscopy, or double-balloon enteroscopy for detection . Pulmonary AVMs,
present in over 40% of cases, should be screened with contrast echocardiography and confirmed with
high-resolution thoracic CT [13]. In this patient, thoracoabdominal magnetic resonance imaging (MRI)
was preferred due to the risk of contrast-induced nephrotoxicity in the context of advanced renal disease.
pág. 3341
This case shares similarities with the case reported by Khan et al. of a young male diagnosed with HHT
who presented with anemia and thrombocytopenia and showed clinical response to bevacizumab [14].
Additionally, the pulmonary vascular complications observed in our patient, although not associated
with overt hypoxemia, are consistent with patterns [15]. Who emphasized the importance of early
screening and management of pulmonary AVMs to prevent paradoxical emboli and stroke [16].
However, unlike the younger patient, our case highlights the additional complexity associated with HHT
in an older adult with comorbid renal failure, psychiatric symptoms, and extensive multisystem
involvement. Moreover, our patient has not yet been treated with antiangiogenic therapy, although her
clinical profile suggests she would benefit from it. Bevacizumab, a monoclonal antibody targeting
vascular endothelial growth factor (VEGF), has emerged as a promising systemic therapeutic option for
patients with refractory HHT, particularly those with transfusion-dependent anemia or symptomatic
visceral AVMs. Multiple case series and prospective studies have demonstrated its effectiveness in
reducing epistaxis severity, increasing hemoglobin levels, and decreasing transfusion requirements .
Although our patient has not yet initiated antiangiogenic treatment, she remains a suitable candidate
given the chronic and multisystemic nature of her disease. She is currently being evaluated for systemic
therapy initiation in a specialized center. It is important to consider the potential adverse effects
associated with bevacizumab-such as hypertension, proteinuria, delayed wound healing, and
gastrointestinal perforation-necessitating individualized risk-benefit assessment. Lower-dose
maintenance regimens have shown favorable outcomes, improving the safety profile and cost-
effectiveness [16]. In addition to systemic management, local control of bleeding was required. Our
patient underwent cauterization of nasal and laryngeal telangiectasias by the otorhinolaryngology team,
which provided temporary symptomatic relief. This intervention aligns with current recommendations
that endorse local treatment as a first-line approach for epistaxis in HHT before systemic therapies are
considered . This case also underscores the comprehensive diagnostic challenge posed by HHT-not only
due to its clinical and multisystem complexity but also because of the significant impact it can have on
a patient’s mental health [17]. The chronic progression of the disease, unpredictability of bleeding
episodes, and associated physical and emotional burden may lead to severe psychiatric disturbances, as
in this case, where the patient developed major depressive symptoms with active suicidal ideation.
This case shares similarities with the case reported by Khan et al. of a young male diagnosed with HHT
who presented with anemia and thrombocytopenia and showed clinical response to bevacizumab [14].
Additionally, the pulmonary vascular complications observed in our patient, although not associated
with overt hypoxemia, are consistent with patterns [15]. Who emphasized the importance of early
screening and management of pulmonary AVMs to prevent paradoxical emboli and stroke [16].
However, unlike the younger patient, our case highlights the additional complexity associated with HHT
in an older adult with comorbid renal failure, psychiatric symptoms, and extensive multisystem
involvement. Moreover, our patient has not yet been treated with antiangiogenic therapy, although her
clinical profile suggests she would benefit from it. Bevacizumab, a monoclonal antibody targeting
vascular endothelial growth factor (VEGF), has emerged as a promising systemic therapeutic option for
patients with refractory HHT, particularly those with transfusion-dependent anemia or symptomatic
visceral AVMs. Multiple case series and prospective studies have demonstrated its effectiveness in
reducing epistaxis severity, increasing hemoglobin levels, and decreasing transfusion requirements .
Although our patient has not yet initiated antiangiogenic treatment, she remains a suitable candidate
given the chronic and multisystemic nature of her disease. She is currently being evaluated for systemic
therapy initiation in a specialized center. It is important to consider the potential adverse effects
associated with bevacizumab-such as hypertension, proteinuria, delayed wound healing, and
gastrointestinal perforation-necessitating individualized risk-benefit assessment. Lower-dose
maintenance regimens have shown favorable outcomes, improving the safety profile and cost-
effectiveness [16]. In addition to systemic management, local control of bleeding was required. Our
patient underwent cauterization of nasal and laryngeal telangiectasias by the otorhinolaryngology team,
which provided temporary symptomatic relief. This intervention aligns with current recommendations
that endorse local treatment as a first-line approach for epistaxis in HHT before systemic therapies are
considered . This case also underscores the comprehensive diagnostic challenge posed by HHT-not only
due to its clinical and multisystem complexity but also because of the significant impact it can have on
a patient’s mental health [17]. The chronic progression of the disease, unpredictability of bleeding
episodes, and associated physical and emotional burden may lead to severe psychiatric disturbances, as
in this case, where the patient developed major depressive symptoms with active suicidal ideation.
pág. 3342
Although the patient formally requested euthanasia, this was ethically and legally declined, as she had
not yet received adequate therapeutic interventions for her psychiatric condition. Under Colombian law,
euthanasia may only be approved in cases of terminal illness or intense physical or psychological
suffering when no reasonable therapeutic alternatives exist, and the multidisciplinary team determined
that such criteria were not yet met in this case [18]. Early intervention by the mental health team,
including pharmacological management with sertraline and cognitive-behavioral therapy, was essential
for clinical stabilization. These manifestations reinforce the need to approach HHT from a
biopsychosocial perspective, recognizing that chronic vascular disorders may compromise both physical
and psychological well-being, and that their management requires comprehensive, multidisciplinary,
long-term care. This case report has certain limitations. First, genetic testing was not performed, which
may have provided confirmatory molecular evidence to complement the clinical diagnosis. Second,
long-term follow-up data regarding the patient’s response to antiangiogenic therapy are not yet available,
which limits conclusions about therapeutic efficacy. Third, the case reflects a single-center experience,
and its generalizability to other settings may be limited.
CONCLUSION
Hereditary hemorrhagic telangiectasia (HHT) represents a paradigmatic example of a multisystem
vascular disorder in which delayed recognition can result in substantial morbidity and compromised
quality of life. This case underscores the critical role of early clinical suspicion and the systematic
application of the Curaçao criteria as a robust and accessible diagnostic framework, particularly in
resource-limited settings where molecular testing is not readily available. Failure to identify HHT in a
timely manner may lead to progressive complications, including severe anemia, visceral arteriovenous
malformations, and preventable life-threatening events. Importantly, this report highlights that the
burden of HHT extends beyond its somatic manifestations, encompassing profound psychological and
functional consequences. The presence of major depressive symptoms and suicidal ideation reinforces
the need to incorporate structured mental health assessment into routine care, supporting a truly
biopsychosocial model of management. From a therapeutic perspective, antiangiogenic strategies such
as bevacizumab represent a promising disease-modifying approach in refractory cases; however, their
implementation requires careful patient selection, risk stratification, and multidisciplinary coordination.
Although the patient formally requested euthanasia, this was ethically and legally declined, as she had
not yet received adequate therapeutic interventions for her psychiatric condition. Under Colombian law,
euthanasia may only be approved in cases of terminal illness or intense physical or psychological
suffering when no reasonable therapeutic alternatives exist, and the multidisciplinary team determined
that such criteria were not yet met in this case [18]. Early intervention by the mental health team,
including pharmacological management with sertraline and cognitive-behavioral therapy, was essential
for clinical stabilization. These manifestations reinforce the need to approach HHT from a
biopsychosocial perspective, recognizing that chronic vascular disorders may compromise both physical
and psychological well-being, and that their management requires comprehensive, multidisciplinary,
long-term care. This case report has certain limitations. First, genetic testing was not performed, which
may have provided confirmatory molecular evidence to complement the clinical diagnosis. Second,
long-term follow-up data regarding the patient’s response to antiangiogenic therapy are not yet available,
which limits conclusions about therapeutic efficacy. Third, the case reflects a single-center experience,
and its generalizability to other settings may be limited.
CONCLUSION
Hereditary hemorrhagic telangiectasia (HHT) represents a paradigmatic example of a multisystem
vascular disorder in which delayed recognition can result in substantial morbidity and compromised
quality of life. This case underscores the critical role of early clinical suspicion and the systematic
application of the Curaçao criteria as a robust and accessible diagnostic framework, particularly in
resource-limited settings where molecular testing is not readily available. Failure to identify HHT in a
timely manner may lead to progressive complications, including severe anemia, visceral arteriovenous
malformations, and preventable life-threatening events. Importantly, this report highlights that the
burden of HHT extends beyond its somatic manifestations, encompassing profound psychological and
functional consequences. The presence of major depressive symptoms and suicidal ideation reinforces
the need to incorporate structured mental health assessment into routine care, supporting a truly
biopsychosocial model of management. From a therapeutic perspective, antiangiogenic strategies such
as bevacizumab represent a promising disease-modifying approach in refractory cases; however, their
implementation requires careful patient selection, risk stratification, and multidisciplinary coordination.
pág. 3343
Ultimately, this case advocates for an integrated, patient-centered, and multidisciplinary approach,
emphasizing that improved awareness, early diagnosis, and timely intervention are essential to
modifying disease trajectory and optimizing long-term outcomes in HHT.
List of Abbreviations
• AVM – Arteriovenous Malformation
• CBT – Cognitive Behavioral Therapy
• CT – Computed Tomography
• ESRD – End-Stage Renal Disease
• HHT – Hereditary Hemorrhagic Telangiectasia
• IV – Intravenous
• MRI – Magnetic Resonance Imaging
• PMNs – Polymorphonuclear Neutrophils
• VEGF – Vascular Endothelial Growth Factor
Ethics Approval and Consent to Participate
Full Project Title:
Hereditary Hemorrhagic Telangiectasia Presenting with Multisystem Involvement and Delayed
Diagnosis: A Case Report
Submitted by:
Christian David Galindo Borda
Date of Submission to the Ethics Committee:
July 26, 2025 – Record No. 052025, Ordinary Virtual Session
In accordance with Record No. 10 of 2017, dated June 22, the Rector's Council of Corporación
Universitaria Remington formally endorsed the establishment of the Bioethics Committee of the Faculty
of Health Sciences. Although the committee had already been functioning informally, this resolution
provided its official recognition and legal standing within the institution. The committee’s primary
purpose is to evaluate research projects submitted to funding agencies and institutional bodies.
The Bioethics Committee for Human Research aims to ensure compliance with current ethical standards
for the inclusion of human beings of all ages, races, and socioeconomic backgrounds in research
Ultimately, this case advocates for an integrated, patient-centered, and multidisciplinary approach,
emphasizing that improved awareness, early diagnosis, and timely intervention are essential to
modifying disease trajectory and optimizing long-term outcomes in HHT.
List of Abbreviations
• AVM – Arteriovenous Malformation
• CBT – Cognitive Behavioral Therapy
• CT – Computed Tomography
• ESRD – End-Stage Renal Disease
• HHT – Hereditary Hemorrhagic Telangiectasia
• IV – Intravenous
• MRI – Magnetic Resonance Imaging
• PMNs – Polymorphonuclear Neutrophils
• VEGF – Vascular Endothelial Growth Factor
Ethics Approval and Consent to Participate
Full Project Title:
Hereditary Hemorrhagic Telangiectasia Presenting with Multisystem Involvement and Delayed
Diagnosis: A Case Report
Submitted by:
Christian David Galindo Borda
Date of Submission to the Ethics Committee:
July 26, 2025 – Record No. 052025, Ordinary Virtual Session
In accordance with Record No. 10 of 2017, dated June 22, the Rector's Council of Corporación
Universitaria Remington formally endorsed the establishment of the Bioethics Committee of the Faculty
of Health Sciences. Although the committee had already been functioning informally, this resolution
provided its official recognition and legal standing within the institution. The committee’s primary
purpose is to evaluate research projects submitted to funding agencies and institutional bodies.
The Bioethics Committee for Human Research aims to ensure compliance with current ethical standards
for the inclusion of human beings of all ages, races, and socioeconomic backgrounds in research
pág. 3344
designed to generate new knowledge or reinforce existing knowledge related to health and human well-
being.
The ethical standards followed by the committee are based on international consensus documents,
including:
1. International standards for biomedical research
2. Colombian Ministry of Health Resolution 008430 of 1993
3. The Declaration of Helsinki
4. The Belmont Report
5. The Nuremberg Code
6. The Universal Declaration of Human Rights
7. The International Code of Medical Ethics for Human Research
8. Resolution 2378 of 2008
9. Law 1374 of 2010 in concordance with Decree 1101 of 2001
The Bioethics Committee of the Faculty of Health Sciences at Corporación Universitaria
Remington hereby certifies that:
1. The following documents were reviewed:
2. a) (X) Project abstract
3. b) (X) Research protocol
4. c) (X) Informed consent form
5. d) ( ) Data collection form (if applicable)
6. e) ( ) Investigator’s brochure (if applicable)
7. f) ( ) Evaluations from other ethics committees (if applicable)
8. This project was evaluated by the following committee members:
designed to generate new knowledge or reinforce existing knowledge related to health and human well-
being.
The ethical standards followed by the committee are based on international consensus documents,
including:
1. International standards for biomedical research
2. Colombian Ministry of Health Resolution 008430 of 1993
3. The Declaration of Helsinki
4. The Belmont Report
5. The Nuremberg Code
6. The Universal Declaration of Human Rights
7. The International Code of Medical Ethics for Human Research
8. Resolution 2378 of 2008
9. Law 1374 of 2010 in concordance with Decree 1101 of 2001
The Bioethics Committee of the Faculty of Health Sciences at Corporación Universitaria
Remington hereby certifies that:
1. The following documents were reviewed:
2. a) (X) Project abstract
3. b) (X) Research protocol
4. c) (X) Informed consent form
5. d) ( ) Data collection form (if applicable)
6. e) ( ) Investigator’s brochure (if applicable)
7. f) ( ) Evaluations from other ethics committees (if applicable)
8. This project was evaluated by the following committee members:
pág. 3345
Conflict of Interest Declared:
Name Role Email
Gustavo Alonso Villegas Committee Chair comitebioeticasalud@uniremington.edu.co
Oscar Augusto Bedoya Carvajal Faculty Researcher oscar.bedoya01@uniremington.edu.co
Excused Absences:
Name Role Email
Christian David Galindo Principal Investigator christian-galindo@uniremington.edu.co
None reported.
3. The risk classification of the present project is as follows:
4. a) (X) No risk
5. b) ( ) Minimal risk
6. c) ( ) Greater than minimal risk
7. In accordance with Article 11 of Resolution 008430 of 1993 of the Colombian Ministry of
Health:
• The Committee considers that appropriate measures have been taken to protect human subjects.
• Observations regarding the informed consent process have been considered and approved.
• The project may be re-evaluated upon request by the investigator, any committee member, or
institutional leadership.
• The Committee will promptly report to institutional authorities any of the following:
• a) Non-compliance by investigators with Committee recommendations
• b) Suspension or withdrawal of approval
• c) Injuries or adverse events involving participants
• d) Unforeseen risks or modifications to the protocol
• The project is approved for a period of one (1) year from the date of approval. Projects lasting
more than one year must be resubmitted for re-evaluation with updated documentation.
Conflict of Interest Declared:
Name Role Email
Gustavo Alonso Villegas Committee Chair comitebioeticasalud@uniremington.edu.co
Oscar Augusto Bedoya Carvajal Faculty Researcher oscar.bedoya01@uniremington.edu.co
Excused Absences:
Name Role Email
Christian David Galindo Principal Investigator christian-galindo@uniremington.edu.co
None reported.
3. The risk classification of the present project is as follows:
4. a) (X) No risk
5. b) ( ) Minimal risk
6. c) ( ) Greater than minimal risk
7. In accordance with Article 11 of Resolution 008430 of 1993 of the Colombian Ministry of
Health:
• The Committee considers that appropriate measures have been taken to protect human subjects.
• Observations regarding the informed consent process have been considered and approved.
• The project may be re-evaluated upon request by the investigator, any committee member, or
institutional leadership.
• The Committee will promptly report to institutional authorities any of the following:
• a) Non-compliance by investigators with Committee recommendations
• b) Suspension or withdrawal of approval
• c) Injuries or adverse events involving participants
• d) Unforeseen risks or modifications to the protocol
• The project is approved for a period of one (1) year from the date of approval. Projects lasting
more than one year must be resubmitted for re-evaluation with updated documentation.
pág. 3346
• The principal investigator is required to:
• a) Report any proposed modifications to the protocol before implementation, except when
changes are necessary to eliminate immediate hazards.
• b) Notify the Committee of any unexpected risks to participants or the community.
• c) Report any serious adverse events within 24 hours to the Committee Chair.
• d) Share any significant new information that may affect risk/benefit considerations.
• e) Communicate any decisions taken by other ethics committees regarding the study.
• f) Inform the Committee of any premature termination or suspension of the project, with
rationale.
• g) Submit a progress report after one year for renewal of approval, if applicable.
5. Committee Decision:
6. a) (X) Approved without recommendations
7. b) ( ) Approved with recommendations
8. c) ( ) Not approved
9. Comments or Recommendations:
10. • Not applicable
________________________
Gustavo Alonso Villegas Mejía
Chair, Bioethics Committee
Faculty of Health Sciences
• The principal investigator is required to:
• a) Report any proposed modifications to the protocol before implementation, except when
changes are necessary to eliminate immediate hazards.
• b) Notify the Committee of any unexpected risks to participants or the community.
• c) Report any serious adverse events within 24 hours to the Committee Chair.
• d) Share any significant new information that may affect risk/benefit considerations.
• e) Communicate any decisions taken by other ethics committees regarding the study.
• f) Inform the Committee of any premature termination or suspension of the project, with
rationale.
• g) Submit a progress report after one year for renewal of approval, if applicable.
5. Committee Decision:
6. a) (X) Approved without recommendations
7. b) ( ) Approved with recommendations
8. c) ( ) Not approved
9. Comments or Recommendations:
10. • Not applicable
________________________
Gustavo Alonso Villegas Mejía
Chair, Bioethics Committee
Faculty of Health Sciences
pág. 3347
Corporación Universitaria Remington
Corporación Universitaria Remington
pág. 3348
pág. 3349
Availability of Data and Materials
Not applicable. This case report did not involve the use of datasets or additional research materials. All
relevant clinical information is included within the manuscript.
Competing Interests
The authors declare that they have no competing interests.
Funding
This research received no specific grant from any funding agency in the public, commercial, or not-for-
profit sectors. The authors declare that no external funding was involved in the conceptualization,
design, data collection, analysis, decision to publish, or preparation of the manuscript.
Authors’ Contributions
C.G. (Christian Galindo) and M.O.L. (Maximiliano Ortega Lasso) contributed to the conception, clinical
interpretation, and drafting of the manuscript.
V.F.O. (Vanessa Fonseca Orozco) and J.M.R.D. (Juan Manuel Rivera Díez) were responsible for data
acquisition, literature review, and critical revision of the work for intellectual content.
D.T. (Daniel Torres) assisted with the final revision and approval of the manuscript and coordinated
communication among co-authors.
All authors have read and approved the submitted version and agree to be personally accountable for
their contributions and for ensuring the integrity and accuracy of the work.
REFERENCES
1. Crist AM, Lee AR, Patel NR, Westhoff DE, Meadows SM. Vascular deficiency of Smad4 causes
arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.
Angiogenesis. 2018;21:363–80. doi:10.1007/s10456-018-9602-0.
2. Inoguchi Y, Kaku B, Kitagawa N, Katsuda S. Hereditary Hemorrhagic Telangiectasia with
SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery
Aneurysm, and Abdominal Aortic Aneurysm. Intern Med. 2019;1:387–93.
doi:10.2169/internalmedicine.1287-18.
Availability of Data and Materials
Not applicable. This case report did not involve the use of datasets or additional research materials. All
relevant clinical information is included within the manuscript.
Competing Interests
The authors declare that they have no competing interests.
Funding
This research received no specific grant from any funding agency in the public, commercial, or not-for-
profit sectors. The authors declare that no external funding was involved in the conceptualization,
design, data collection, analysis, decision to publish, or preparation of the manuscript.
Authors’ Contributions
C.G. (Christian Galindo) and M.O.L. (Maximiliano Ortega Lasso) contributed to the conception, clinical
interpretation, and drafting of the manuscript.
V.F.O. (Vanessa Fonseca Orozco) and J.M.R.D. (Juan Manuel Rivera Díez) were responsible for data
acquisition, literature review, and critical revision of the work for intellectual content.
D.T. (Daniel Torres) assisted with the final revision and approval of the manuscript and coordinated
communication among co-authors.
All authors have read and approved the submitted version and agree to be personally accountable for
their contributions and for ensuring the integrity and accuracy of the work.
REFERENCES
1. Crist AM, Lee AR, Patel NR, Westhoff DE, Meadows SM. Vascular deficiency of Smad4 causes
arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.
Angiogenesis. 2018;21:363–80. doi:10.1007/s10456-018-9602-0.
2. Inoguchi Y, Kaku B, Kitagawa N, Katsuda S. Hereditary Hemorrhagic Telangiectasia with
SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery
Aneurysm, and Abdominal Aortic Aneurysm. Intern Med. 2019;1:387–93.
doi:10.2169/internalmedicine.1287-18.
pág. 3350
3. Dakeishi M, Shioya T, Wada Y. Genetic epidemiology of hereditary hemorrhagic telangiectasia
in a local community in the northern part of Japan. Hum Mutat. 2002;19:140–8.
doi:10.1002/humu.10026.
4. Garg N, Khunger M, Gupta A, Kumar N. Optimal management of hereditary hemorrhagic
telangiectasia. J Blood Med. 2014;15:191–206. doi:10.2147/JBM.S45295.
5. Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary
hemorrhagic telangiectasia (Rendu-Osler). Respiration. 2007;74:361–78.
doi:10.1159/000103205.
6. Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality
in hereditary hemorrhagic telangiectasia: A population-based study. Neurology. 2015;84:1886–
93. doi:10.1212/WNL.0000000000001538.
7. Sautter NB, Smith TL. Treatment of hereditary hemorrhagic telangiectasia-related epistaxis.
Otolaryngol Clin North Am. 2016;49:639–54. doi:10.1016/j.otc.2016.02.010.
8. Yaniv E, Preis M, Shevro J, Nageris B, Hadar T. Anti-estrogen therapy for hereditary
hemorrhagic telangiectasia – a long-term clinical trial. Rhinology. 2011;49:214–6.
doi:10.4193/Rhino09.201.
9. Johnson DW, Berg JN, Baldwin MA. Mutations in the activin receptor-like kinase 1 gene in
hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189–95.
doi:10.1038/ng0696-189.
10. Pierucci P, Lenato GM, Suppressa P, Lastella P. A long diagnostic delay in patients with
hereditary haemorrhagic telangiectasia: a questionnaire-based retrospective study. Orphanet J
Rare Dis. 2012;7:33. doi:10.1186/1750-1172-7-33.
11. McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K. Curaçao
diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic
variant in ENG or ACVRL1 (HHT1 and HHT2). Genet Med. 2020;22:1201–5.
doi:10.1038/s41436-020-0775-8.
3. Dakeishi M, Shioya T, Wada Y. Genetic epidemiology of hereditary hemorrhagic telangiectasia
in a local community in the northern part of Japan. Hum Mutat. 2002;19:140–8.
doi:10.1002/humu.10026.
4. Garg N, Khunger M, Gupta A, Kumar N. Optimal management of hereditary hemorrhagic
telangiectasia. J Blood Med. 2014;15:191–206. doi:10.2147/JBM.S45295.
5. Cottin V, Dupuis-Girod S, Lesca G, Cordier JF. Pulmonary vascular manifestations of hereditary
hemorrhagic telangiectasia (Rendu-Osler). Respiration. 2007;74:361–78.
doi:10.1159/000103205.
6. Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality
in hereditary hemorrhagic telangiectasia: A population-based study. Neurology. 2015;84:1886–
93. doi:10.1212/WNL.0000000000001538.
7. Sautter NB, Smith TL. Treatment of hereditary hemorrhagic telangiectasia-related epistaxis.
Otolaryngol Clin North Am. 2016;49:639–54. doi:10.1016/j.otc.2016.02.010.
8. Yaniv E, Preis M, Shevro J, Nageris B, Hadar T. Anti-estrogen therapy for hereditary
hemorrhagic telangiectasia – a long-term clinical trial. Rhinology. 2011;49:214–6.
doi:10.4193/Rhino09.201.
9. Johnson DW, Berg JN, Baldwin MA. Mutations in the activin receptor-like kinase 1 gene in
hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189–95.
doi:10.1038/ng0696-189.
10. Pierucci P, Lenato GM, Suppressa P, Lastella P. A long diagnostic delay in patients with
hereditary haemorrhagic telangiectasia: a questionnaire-based retrospective study. Orphanet J
Rare Dis. 2012;7:33. doi:10.1186/1750-1172-7-33.
11. McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K. Curaçao
diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic
variant in ENG or ACVRL1 (HHT1 and HHT2). Genet Med. 2020;22:1201–5.
doi:10.1038/s41436-020-0775-8.
pág. 3351
12. Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal
manifestations of hereditary hemorrhagic telangiectasia (HHT): a systematic review of the
literature. Dig Dis Sci. 2017;62:2623–30. doi:10.1007/s10620-017-4719-3.
13. van Gent MW, Post MC, Luermans JG. Screening for pulmonary arteriovenous malformations
using transthoracic contrast echocardiography: a prospective study. Eur Respir J. 2009;33:85–
91. doi:10.1183/09031936.00049008.
14. Khan AR, Waqar S, Wazir MH, Arif A. A rare case of hereditary hemorrhagic telangiectasia: a
case report. Cureus. 2022;27:e24517. doi:10.7759/cureus.24517.
15. Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary
haemorrhagic telangiectasia. Eur Respir J. 2009;33:1186–94. doi:10.1183/09031936.00061308.
16. Ou G, Galorport C, Enns R. Bevacizumab and gastrointestinal bleeding in hereditary
hemorrhagic telangiectasia. World J Gastrointest Surg. 2016;8:792–5.
doi:10.4240/wjgs.v8.i12.792.
17. Gong AJ, Bolsegui ML, Lee EE. Quantifying the burden of hereditary hemorrhagic
telangiectasia on quality of life and psychological health: a cross-sectional study. Orphanet J
Rare Dis. 2025;7:109. doi:10.1186/s13023-025-03620-8.
18. Ministerio de Salud y Protección Social. Protocolo para la aplicación del procedimiento de
eutanasia en Colombia. Bogotá: Ministerio de Salud y Protección Social; 2015.
12. Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal
manifestations of hereditary hemorrhagic telangiectasia (HHT): a systematic review of the
literature. Dig Dis Sci. 2017;62:2623–30. doi:10.1007/s10620-017-4719-3.
13. van Gent MW, Post MC, Luermans JG. Screening for pulmonary arteriovenous malformations
using transthoracic contrast echocardiography: a prospective study. Eur Respir J. 2009;33:85–
91. doi:10.1183/09031936.00049008.
14. Khan AR, Waqar S, Wazir MH, Arif A. A rare case of hereditary hemorrhagic telangiectasia: a
case report. Cureus. 2022;27:e24517. doi:10.7759/cureus.24517.
15. Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary
haemorrhagic telangiectasia. Eur Respir J. 2009;33:1186–94. doi:10.1183/09031936.00061308.
16. Ou G, Galorport C, Enns R. Bevacizumab and gastrointestinal bleeding in hereditary
hemorrhagic telangiectasia. World J Gastrointest Surg. 2016;8:792–5.
doi:10.4240/wjgs.v8.i12.792.
17. Gong AJ, Bolsegui ML, Lee EE. Quantifying the burden of hereditary hemorrhagic
telangiectasia on quality of life and psychological health: a cross-sectional study. Orphanet J
Rare Dis. 2025;7:109. doi:10.1186/s13023-025-03620-8.
18. Ministerio de Salud y Protección Social. Protocolo para la aplicación del procedimiento de
eutanasia en Colombia. Bogotá: Ministerio de Salud y Protección Social; 2015.