Hereditary Hemorrhagic Telangiectasia Presenting with Multisystem Involvement and Delayed Diagnosis: A Case Report

Resumen

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.