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.