Case Reports in Medicine
Volume 2015, Article ID 186718, 4 pages
http://dx.doi.org/10.1155/2015/186718
An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome
1Penn State Hershey Medical Center, Penn State College of Medicine, Division of General Internal Medicine, 500 University Drive, Hershey, PA 17033, USA
2Memorial Hermann Sugar Land Hospital, 17500 West Grand Parkway, Sugar Land, TX 77479, USA
3Penn State Hershey Medical Center, Penn State College of Medicine, Division of Gastroenterology and Hepatology, 500 University Drive, Hershey, PA 17033, USA
Received 25 June 2014; Accepted 8 January 2015
Academic Editor: Remo Panaccione
Copyright © 2015 JayaKrishna Chintanaboina et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Although abnormal liver function tests occur in 50–80% of cases with Turner syndrome, there are no previous reports of overt hepatic disease or hepatic granulomas associated with Turner’s syndrome. We report three cases of Turner syndrome associated with hepatic granulomas with a wide range of liver dysfunction. Of the three patients, first patient underwent liver transplantation; second patient remained stable on immunosuppressants; and third patient died from complications of decompensated liver cirrhosis as she declined liver transplantation due to multiple comorbidities. One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. She had remarkably abnormal lipid panel that responded to ezetimibe and by stopping the β-sitosterol supplement.