Unmasking a Rare Genetic Puzzle: Hereditary Hemorrhagic Telangiectasia in a Black Kenyan Woman: A Case Report.

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder characterized by mucocutaneous and visceral telangiectasias, often leading to severe complications. This case report presents an uncommon manifestation of HHT in a 57-year-old Black Kenyan female with upper gastrointestinal bleeding. Given the rarity of HHT in our region, this case underscores the importance of early recognition, particularly in resource-limited settings, to improve patient outcomes.

Case presentation: A 57-year-old Black Kenyan female presented with recurrent upper gastrointestinal bleeding. Endoscopy revealed multiple telangiectatic lesions in the stomach and duodenum, with an actively bleeding duodenal telangiectasia. Despite limited diagnostic resources, a thorough history and focused clinical examination led to the diagnosis of HHT. She was managed with blood transfusions, intravenous iron, tranexamic acid, and supportive therapy to control bleeding. Systemic therapy with low-dose tacrolimus was later initiated for recurrent gastrointestinal bleeding. This case illustrates the diagnostic and therapeutic challenges faced in a low-resource setting.

Conclusion: This is the first documented case of HHT with upper gastrointestinal bleeding reported in Western Kenya. Raising awareness of this rare condition among healthcare providers can facilitate early diagnosis and intervention, ultimately improving patient outcomes.