Abdominal manifestations of hereditary hemorrhagic telangiectasia: a series of 333 patients over 15 years

Purpose: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multi-organ vascular disorder that commonly affects the gastrointestinal tract and the liver resulting in telangiectasias and arteriovenous malformations (AVMs). Previous studies looking at the prevalence of liver and abdominal organ involvement in HHT have been limited by differing imaging techniques and sample size limitations. We sought to define the prevalence of HHT related abdominal vascular abnormalities using optimized multiphasic contrast-enhanced abdominal computed tomography (CT) exams in a large cohort of HHT patients. Methods: Between January 2001 and May 2015; we identified a total of 333 consecutive HHT patients who had undergone a dedicated HHT protocol multiphase abdominal CT at our institution. The CT exams were reviewed by three board certified abdominal radiologists for the presence of vascular abnormalities involving the liver, pancreas, spleen, and other abdominal organs. Vascular abnormalities involving the liver were further categorized as telangiectasias, large confluent vascular masses, perfusion abnormalities, or hepatic shunts. Results: In patients with abdominal vascular abnormalities, the liver was the most commonly involved organ, with 180 out of 333 (54.1%) patients demonstrating at least one hepatic vascular abnormality (telangiectasia, confluent vascular mass, transient perfusion abnormalities, and hepatic shunts), with most (70.0%) demonstrating multiple hepatic vascular abnormalities. The other most common organs involved included the pancreas (18.0%), spleen (6.3%), and small bowel (4.5%). Conclusion: In patients with the clinical diagnosis of HHT, greater than half demonstrate an abdominal vascular abnormality, with the most commonly involved organ being the liver. These may be under recognized on routine or single phase contrast-enhanced CT of the abdomen. This supports the use of optimized multiphasic abdominal CT exams as an important tool for the evaluation and screening of patients with HHT.