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.
