Abstract

ABSTRACT

Background: 

Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu disease, is a rare autosomal dominant disease, affecting multi-organ systems characterized by mucocutaneous and visceral telangiectasias as well as arteriovenous malformations (AVMs). This disorder has been reported to be rare in people of black African descent but common in Caucasians. To the best of our knowledge, this is the first reported case in a literature, of a definite hereditary hemorrhagic telangiectasia diagnosed in Ghana, a resource-limited setting with limited treatment options. 

Case presentation: Our patient is a 30-year-old Ghanaian male who presented to our hospital’s emergency department with a complaint of occipital headache and epistaxis. He’s had recurrent nose bleeds since childhood. His physical examination revealed telangiectasia on the lower lip and tongue. The father has episodic nose bleeds, his older half sister has spontaneous nose bleeds, his twin brother has episodic nose bleeds,  and younger male half- sibling has spontaneous nosebleed. Most family members have mucocutaneous telangiectasia. A non-contrast head CT scan revealed intracerebral hemorrhage and a CT scan with angiogram showed cerebral arteriovenous malformations. He fulfilled the Curacao diagnostic criteria for definite hereditary hemorrhagic telangiectasia. Treatment options were unavailable in this setting, and the patients’ GCS suddenly dropped with low saturation. He was intubated but ultimately had a cardiac arrest with pulseless electrical activity and died despite multiple attempts at cardiopulmonary resuscitation.

Conclusion: This rare case of hereditary haemorrhagic telangiectasia has shown that it occurs in an African population and that diagnostic challenges in resource-limited settings poses a major challenge. Due to its fatal complications, early diagnosis is paramount in initiating preventive screening and surveillance since treatment options also remain a challenge in these settings.