Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and inflammatory bowel disease
Article first published online: 27 JUN 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Hematology
Volume 70, Issue 3, pages 257–259, July 2002
How to Cite
Sokol, L., Stueben, E. T., Jaikishen, J. P. and Lamarche, M. B. (2002), Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and inflammatory bowel disease. Am. J. Hematol., 70: 257–259. doi: 10.1002/ajh.10120
- Issue published online: 27 JUN 2002
- Article first published online: 27 JUN 2002
- Manuscript Accepted: 15 MAR 2002
- Manuscript Received: 29 JAN 2002
- Turner syndrome;
- acquired von Willebrand disease;
- primary biliary cirrhosis;
- inflammatory bowel disease
We report a unique case of Turner syndrome associated with acquired von Willebrand disease (AvWD), primary biliary cirrhosis (PBC), and inflammatory bowel disease (IBD). During 7 years of close follow-up, the patient presented with multiple major episodes of upper and lower gastrointestinal bleeding caused by different pathogenic mechanisms, such as IBD, AvWD, gastric varices, and thrombocytopenia. AvWD mimicking familial vWD type III on laboratory testing was most probably triggered by autoimmune mechanism associated with PBC. Therapy of PBC with ursodeoxycholic acid (UDCA) resulted in significant decrease of liver enzymes followed by normalization of vWF and FVIII levels. Portosystemic shunt placement with ligation of gastric varices improved hypersplenism and severe thrombocytopenia and led to clinical stability for more than 24 months. The clinicopathological features of these disorders and of the recurrent bleeding episodes are discussed in the text along with a review of the literature. Am. J. Hematol. 70:257–259, 2002. © 2002 Wiley-Liss, Inc.