• J Med Case Rep · May 2016

    Case Reports

    Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report.

    • Joan Chepkorir Kiyeng, Abraham Siika, Cornelius Koech, and Gerald S Bloomfield.
    • Department of Internal Medicine, College of Health Sciences, School of Medicine, Moi University, P.O Box 4606, Eldoret, Kenya. joankiyeng@gmail.com.
    • J Med Case Rep. 2016 May 25; 10 (1): 126.

    BackgroundHereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease characterized by vascular dysplasia. To the best of our knowledge, we report the first case in the literature of definite hereditary hemorrhagic telangiectasia diagnosed in western Kenya, a resource-limited setting with limited treatment options.Case PresentationA 60-year-old black Kenyan woman was admitted 1 year ago to a hospital in western Kenya with an 11-year history of recurrent spontaneous epistaxis. Her physical examination revealed that she had telangiectasias on the tongue and hard palate, severe pallor, and hepatomegaly. A chest radiograph revealed right middle lobe opacity. After a positive saline contrast echocardiography, she underwent contrast-enhanced chest computed tomography, which revealed a large pulmonary arteriovenous malformation and multiple hepatic arteriovenous malformations. Therefore, she fulfilled criteria for definite hereditary hemorrhagic telangiectasia. She was managed with nasal packing, tranexamic acid, oral ferrous sulfate, and blood transfusions, as other treatment options were unavailable in this setting.ConclusionsThis rare case of hereditary hemorrhagic telangiectasia demonstrates that it occurs in an African population and that diagnostic challenges in resource-limited settings can be surmounted. Treatment options remain limited in these settings.

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