Rationale: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations (AVMs), which can lead to serious bleeding and organ complications. Early diagnosis and multidisciplinary management are essential. Patient concerns: A 61-year-old man presented with intermittent melena, hematochezia, and severe epistaxis. While undergoing hemodialysis for newly diagnosed end-stage renal disease, he developed respiratory distress, hemoptysis, and hemorrhagic shock. Diagnoses: Clinical suspicion of HHT was supported by imaging that revealed a pulmonary AVM. Genetic testing confirmed a heterozygous endoglin mutation, establishing a diagnosis of HHT type 1. Interventions: He underwent endoscopic hemostasis, tracheostomy, pulmonary AVM embolization, inhaled tranexamic acid, and thalidomide to control bleeding. Outcomes: Thalidomide reduced the frequency of transfusions and the severity of bleeding; however, intermittent bleeding persisted. The patient remained ventilator-dependent due to respiratory compromise. Lessons: HHT should be suspected in patients presenting with recurrent bleeding at multiple sites. Genetic testing is essential for confirming the diagnosis, while a combination of endoscopic, interventional, and antiangiogenic therapies plays a crucial role in management. Despite these treatments, controlling bleeding remains challenging, highlighting the importance of individualized, multidisciplinary care.
Ching Wen Pang (Fri,) studied this question.
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