Discussion:
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease is a rare autosomal dominant (AD) vascular disorder affecting the skin and body’s internal organs in which there is an increased tendency for bleeding.
A consensus upon diagnostic testing is applied as Curacoa criteria which includes 2 criteria out of 4 for possible diagnosis and 3 out of 4 criteria for confirming the diagnosis. These criteria include recurrent episodes of epistaxis, telangiectasias in the skin and mucosal surfaces, arteriovenous malformations (AVMs) in visceral organs (lung, liver, brain and spine) as well as having a first-degree relative with confirmed disease using the same criteria (2).
There are not many cases reported from the African continent with a case of a 60-year-old African woman from Nairobi, Kenya has been described (3). We think that the reason might be that diagnosing such a condition can be challenging in low-resource countries such as Sudan in this case. Availability of complex investigation modalities away from big cities can be a big hinderance in terms of diagnostic approach to patients with suspected HHT.
In this article, we report a case of a 42-year-old Sudanese man who presented with a lifelong bleeding problem with recurrent epistaxis and known first-degree relative (a brother) with HHT diagnosed using the same Curacoa criteria who has died. He has multiple telangiectasias in his palm skin. His colonoscopy revealed no telangiectasia, though. Due to financial difficulties and availability investigations modalities, the patient was not able to do vascular imaging studies to look for AVMs in lungs, liver or brain. He was found to be positive for hepatitis C virus, which we suggest that it could be related to recurrent transfusions he received due to his anemia from chronic blood loss. While hepatomegaly has been reported in the case of the Kenyan woman, this patient has enlargement of not only his liver but also his spleen (10 and 6 cm below the costal margin, respectively) along with visible purpuric rash. We aim in this article to expand the literature about this disease in Africa.
Recurrent epistaxis is the single most common manifestation of HHT that is affecting up to nearly 90% of patients (4). It can be massive and progress to an emergency affecting the hemodynamic stability of patients. It is usually managed and controlled by nasal packing and tranexamic acid. Recurrent bleeding results in anemia that can be managed using blood transfusion and iron replacement therapies. While this patient has the predominant mucocutaneous manifestations, visceral organs involvement can lead to some serious complications including hypoxemia from secondary shunting of the blood due to pulmonary AVMs and possible paradoxical pulmonary embolism for the mechanism which was reported in the literature (4). Strokes, both ischemic and hemorrhagic have also been reported.