Solela Gashaw, Adamseged Michael, Mohammed Abdulsemed
Department of Internal Medicine Yekatit 12 Hospital Medical College Addis Ababa Ethiopia.
Division of Gastroenterology and Hepatology, Department of Internal Medicine College of Health Sciences, Addis Ababa University Addis Ababa Ethiopia.
Clin Case Rep. 2023 Jul 12;11(7):e7694. doi: 10.1002/ccr3.7694. eCollection 2023 Jul.
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.
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.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的遗传性疾病，可导致反复大量鼻出血和胃肠道出血，进而引起严重贫血。HHT的早期诊断对于及时提供介入治疗至关重要。
HHT是一种罕见的常染色体显性遗传病，可导致皮肤、黏膜以及肝脏、肺和脑等内脏器官血管生成异常。HHT的临床诊断采用库拉索标准，包括反复自发性鼻出血、黏膜皮肤毛细血管扩张、内脏器官受累以及HHT的一级家族史。在此，我们报告一名来自埃塞俄比亚的HHT患者，该患者出现反复鼻出血和胃肠道出血，以及严重贫血，需要频繁输血和烧灼治疗。该病例为一名42岁的埃塞俄比亚黑人男性，因严重贫血和高输出量心力衰竭频繁住院，需要频繁输血。他的母亲自成年早期就有双侧鼻出血。体格检查发现心动过速、结膜苍白、舌头上有微小的红斑病变、喷射性收缩期杂音和外周水肿。实验室检查显示严重贫血且有缺铁表现。上消化道内镜检查显示多个毛细血管扩张斑，腹部多普勒超声显示肝动静脉畸形。他接受了支持治疗以及对鼻腔、胃和十二指肠毛细血管扩张的电烧灼治疗。据我们所知，这是埃塞俄比亚报告的首例HHT病例。对HHT保持高度怀疑并进行早期诊断对于开展预防性筛查和监测以及及时提供介入治疗至关重要。HHT可导致反复大量鼻出血和胃肠道出血，进而引起严重贫血和高输出量心力衰竭。在资源有限的环境中，选择性烧灼毛细血管扩张有助于控制出血，尽管无法避免反复出血。
