Discussion
Hereditary hemorrhagic telangiectasia (HHT, also known as Osler Weber
Rendu syndrome) is characterized by the growth of arteriovenous
malformations (AVMs) on mucocutaneous surfaces, including the skin,
lips, nose, and buccal mucosa, as well as visceral organs like the
brain, lungs, and liver [13].
Recurrent epistaxis and mucocutaneoustelangiectasias are the most
prevalent clinical symptoms of HHT, occurring in more than 90% of
affected people by the age of 40 [15]. Our patient never noted any
bleeding from his oral telangiectatic lesions. By the time a patient
reaches the age of 30 [16], telangiectasias are more prevalent,
infrequently bleed, and impact 70% of individuals. Our patient’s first
episode of epistaxis occurred around the age of 36, which is a little
later than what is generally described in the literature, which states
that in more than 90% of cases, epistaxis is the disease’s initial
clinical manifestation and that it usually happens before the age of 20
[17].
Up to 30% of patients experience recurrent gastrointestinal (GI)
bleeding as a result of telangiectasias [18]. The upper GI endoscopy
of our patient revealed numerous gastroduodenal telangiectasia and
gastrointestinal hemorrhage. These results verified that our patient’s
GI telangiectasias are the sources of bleeding. Gastrointestinal
bleeding is often encountered in people who are in their fifth decade of
life which goes with our patient’s presentation [19].
Severe anemia, as was discovered in our patient, is not a frequent
finding in HHT. Anemia is primarily brought on by persistent
gastrointestinal bleeding and, in rare cases, severe epistaxis [20].
In a study to evaluate the prevalence and risk factors for anemia in
HHT, epistaxis and gastrointestinal bleeding were both demonstrated to
be independently connected with anemia, and the prevalence of a history
of anemia was found to be 50% [21]. In line with the results of
this study, our patient had severe anemia because of the epistaxis and
gastrointestinal hemorrhage. In another study which included a total of
168 patients, 84 had documented anemia and of the patients with anemia,
the majority were female (72%) and Caucasian (79%) unlike demography
of our patient. GI telangiectasias were most common in the severe anemia
group (67%) coinciding with findings of our patient [22].
HHT rarely has an impact on the heart. High-output cardiac failure
brought on by arteriovenous shunting in the liver is the most prevalent
condition [23]. In our patient, liver Doppler ultrasound revealed a
hepatic AV malformation, which can explain the heart failure in addition
to severe anemia caused by blood loss [Figure 3].
Visceral AVMs, which are mostly asymptomatic, affect the cerebral,
pulmonary, hepatic and, sporadically spinal vasculature [24]. Though
abdominal ultrasound revealed signs of hepatic AVMs, our patient was not
screened for pulmonary and cerebral AVMs because of financial
constraints.
The treatment of HHT is mainly conservative as there is no permanent
cure for the bleeding and anemia. The therapy revolves around the
prevention and acute management of these manifestations, including blood
transfusions and iron supplementation. Our patient was getting
supportive management with frequent blood transfusion and optimal
diuresis along with per need nasal packing. When supportive management
fails, newer therapies like hormonal agents, thalidomide and bevacizumab
have shown promising results [24]. Bevacizumab produced a very
strong response in two patients with HHT who also experienced epistaxis
and GI bleeding, which significantly decreased the number of blood
transfusions needed [25, 26].
A skilled endoscopist may consider making a few limited tries to
cauterize big visible telangiectasias, but repeated attempts are not
likely to be successful [27, 28]. Our patient had undergone
successful endoscopic intervention with numerous endoscopic
electrocauterizations done using a snare tip for his stomach and
duodenal telangiectasias after which he did not have a drop in
hemoglobin level and was transfusion free.