S3091 Noncirrhotic Portal Hypertension in Turner’s Syndrome: A Case Report

Abstract

Introduction: Turner's syndrome is one the most common chromosomal aneuploidies in humans. Although it can affect multiple organs, involvement of gastrointestinal (GI) organs is rare. Case Description/Methods: A 20-year-old female with history of Turner's syndrome with premature ovarian failure and mild mitral regurgitation was evaluated for easy fatigability and bruising. Laboratory assessment indicated pancytopenia. Peripheral blood smear showed a variety of red cell shape abnormalities and bone marrow biopsy showed normal cellular marrow. Computed tomography of the chest, abdomen and pelvis with and without contrast showed severe splenomegaly, tiny varices in the anterior mediastinum along the gastrohepatic ligament, and no portal vein thrombosis. Abdominal ultrasound examination revealed severe diffuse heterogeneity of the liver parenchyma with a slightly nodular hepatic contour and Fibroscan indicated mild steatosis S1 with advanced fibrosis F3. She underwent liver biopsy which showed focal mature fibrous expansion of some portal tracts, with delicate bridging fibrosis, as well as patchy increase in the number of small portal arteries with occasional increased thickness of arterial wall, subtle lobular parenchymal changes, suggestive of porto-sinusoidal vascular disease with no evidence of cirrhosis. Upper GI endoscopy revealed grade 2 esophageal varices and erythematous mucosa in stomach, suggestive of portal hypertension. Considering the definitive clinical signs of portal hypertension (gastroesophageal varices), the absence of cirrhosis on liver biopsy and histologic signs of porto-sinusoidal vascular disease, she was diagnosed with non-cirrhotic portal hypertension due to porto-sinusoidal vascular disease. She was started on propranolol for gastroesophageal varices and her heart rate is currently well-controlled. Follow-up abdominal ultrasound is negative for further changes in the liver size, morphology, or masses. Discussion: Turner’s syndrome might be associated with non-cirrhotic portal hypertension. High index of clinical suspicion can lead to early diagnosis and treatment of portal hypertension in individuals with Turner’s syndrome, reducing the burden of complications of portal hypertension such as cytopenia or bleeding.