Abstract
KEY CLINICAL MESSAGES: Hereditary hemorrhagic telangiectasia (HHT), a rare hereditary disorder, can cause recurrent massive epistaxis and gastrointestinal bleeding leading to severe anemia. Early diagnosis of HHT is essential to provide timely interventional therapies. ABSTRACT: HHT is a rare autosomal dominant hereditary disease that results in abnormal vasculogenesis in the skin, mucous membranes, and visceral organs such as the liver, lungs, and brain. Clinical diagnosis of HHT is made using the Curacao criteria, which include recurrent spontaneous nosebleeds, mucocutaneous telangiectasias, visceral organ involvement, and first-degree family history of HHT. Here, we report a patient with HHT from Ethiopia, who presented with recurrent epistaxis and gastrointestinal bleeding, and severe anemia requiring frequent blood transfusions as well as cauterization. The presented case is a 42-year-old Black Ethiopian man with frequent hospitalization for severe anemia and high-output heart failure requiring frequent blood transfusions. His mother had bilateral epistaxis since her early adulthood. Physical examination was significant for tachycardia, pale conjunctivae, and tiny erythematous lesions over his tongue, ejection systolic murmur and peripheral edema. Laboratory investigations revealed severe anemia with iron deficiency picture. Upper gastrointestinal endoscopy showed multiple telangiectasia spots and abdominal Doppler ultrasound showed hepatic arterio-venous malformations. He received supportive management and electrocauterization of nasal, gastric, and duodenal telangiectasias. To the best of our knowledge, this is the first case of HHT to be reported from Ethiopia. High degree of suspicion and early diagnosis of HHT is essential to start preventive screening and surveillance and provide timely interventional therapies. HHT can cause recurrent massive epistaxis and gastrointestinal bleeding leading to severe anemia and high-output heart failure. In resource limited settings, selective cauterization of telangiectasia will help to control bleeding, although it does not avoid recurrent bleeding.