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01.12.2016 | Case report | Ausgabe 1/2016 Open Access

Journal of Medical Case Reports 1/2016

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2016
Autoren:
Joan Chepkorir Kiyeng, Abraham Siika, Cornelius Koech, Gerald S. Bloomfield
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​s13256-016-0909-4) contains supplementary material, which is available to authorized users.

Abstract

Background

Hereditary 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 presentation

A 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.

Conclusions

This 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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