Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.

Keywords: Arteriovenous malformation; Hereditary hemorrhagic telangiectasia (HHT); Juvenile polyposis syndrome; Osler–Weber–Rendu syndrome.

Fig. 1

Transverse colon polyp biopsy with H&E stain (magnification ×50) showing abnormal vascular formations throughout the mucosa (a) and submucosa (b) consistent with HHT. Arrows point to the areas of vascular dilation

Fig. 2

CT image of the abdomen demonstrating focal nodular hyperplasia of the left lobe of the liver and early cirrhosis in a patient with genetically confirmed HHT

Fig. 3

Endoscopic images of the gastric body and antrum in a patient with genetically confirmed HHT demonstrating multiple telangiectasias predominantly in the distal body and antrum