Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and 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.
Sokol
Lubomir
L
Department of Internal Medicine, College of Medicine, University of South Florida, Tampa 33612, USA. sokolll@hotmail.com
Stueben
Eugen T
ET
Jaikishen
Jay P
JP
Lamarche
Maximo B
MB
D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D000469:Alkaline Phosphatase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D001663:Bilirubin / Q000097:blood; D004932:Esophageal and Gastric Varices / Q000150:complications / Q000601:surgery; D005169:Factor VIII / Q000032:analysis; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006801:Humans; D006971:Hypersplenism / Q000628:therapy; D015212:Inflammatory Bowel Diseases / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D008105:Liver Cirrhosis, Biliary / Q000150:complications* / Q000188:drug therapy; D010314:Partial Thromboplastin Time; D010976:Platelet Count; D011170:Portasystemic Shunt, Surgical; D013921:Thrombocytopenia / Q000150:complications; D014424:Turner Syndrome / Q000150:complications*; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use; D014842:von Willebrand Diseases / Q000097:blood / Q000150:complications* / Q000628:therapy; D014841:von Willebrand Factor / Q000032:analysis
D014841:von Willebrand Factor; D014580:Ursodeoxycholic Acid; D005169:Factor VIII; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D000469:Alkaline Phosphatase; D001663:Bilirubin