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.