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Case Reports
. 2019 Aug 8;11(8):e5349.
doi: 10.7759/cureus.5349.

Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia

Waseem Jan  1 , Asim Tameez Ud Din  2 , Farooq Mohyud Din Chaudhary  3 , Ahsan Tameez-Ud-Din  2 , Faisal Nawaz  4
Affiliations
Case Reports

Hereditary Hemorrhagic Telangiectasia: A Rare Cause of Anemia

Waseem Jan et al. Cureus. .

Abstract

Hereditary hemorrhagic telangiectasias (HHT), also known as Osler-Weber-Rendu syndrome, is an uncommon genetic disorder. It is inherited as an autosomal dominant disorder with varying penetrance and expression. The diagnosis of HHT requires the presence of at least three out of four clinical criteria. These so-called Curaçao criteria include epistaxis, telangiectasias, visceral involvement, and a family history of HHT in a first-degree relative. Visceral involvement can involve the gastrointestinal (GI) tract, resulting in the development of GI telangiectasias. One of the complications is anemia due to the chronic blood loss from these vascular malformations. Here, we present a case of a 26-year-old male who was diagnosed with HHT. He initially had episodes of epistaxis but now presented to us with features of anemia. According to the patient, he didn't have epistaxis for the past many months and on his esophagogastroduodenoscopy (EGD) and colonoscopy, there was evidence of multiple small telangiectasias seen in his stomach, duodenum, and colon. He was managed with blood transfusion and was discharged on oral iron supplementation. This is a rare cause of anemia and should be evaluated if other features of HHT are present.

Keywords: anemia; hereditary hemorrhagic telangiectasia; telangiectasia.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. CT angiogram of abdominal vessels taken in supine (A) and prone (B) positions showing significantly dilated and tortuous hepatic artery (red arrow in A and B) with an abnormal cluster of contrast-filled vessels (green arrow in A and B), likely supplied by the hepatic artery and anatomically located in the region of porta hepatis. Early opacification of the portal vein identified.
These findings likely represent a hepatic arteriovenous malformation with possible fistulous communication between the portal vein and the hepatic artery. Aorta (thoracic and abdominal) is well-outlined with contrast with normal opacification of its major branches. CT: computed tomography
Figure 2
Figure 2. Telangiectasias (white arrows) are seen on the tongue (A, B, C) and palate (C) of the patient. A cherry angioma (red arrow) is seen below the right nipple of the patient (D).
Figure 3
Figure 3. Endoscopic images showing multiple telangiectasias (black arrows) characteristic of HHT in the stomach body (B, C), duodenum (D), fundus (E, F), and the rectum and sigmoid part of the colon (G, H, I). Esophagus (A) is normal.
HHT: hereditary hemorrhagic telangiectasia
See this image and copyright information in PMC

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