Background: A 22-year-old female presented with edema, diarrhea, hypoalbuminemia and pancytopenia. She had previously been diagnosed with congenital disorder of glycosylation type Ib, and had a history of congenital hepatic fibrosis, portal hypertension and esophageal varices. In the past she had refused mannose therapy because of associated diarrhea and abdominal pain. Investigations: Laboratory examinations, abdominal ultrasonography, bacterial and viral cultures of blood, urine and stools, double-balloon enteroscopy and fecal excretion test using51Cr-labeled albumin. Diagnosis: Protein-losing enteropathy. Management: Infusion of albumin followed by intravenous and subcutaneous therapy with unfractionated heparin.

Additional Metadata
Persistent URL,
Liem, Y.S., Bode, L., Freeze, H.H., Leebeek, F.W.G., Zandbergen, A.A.M., & Paul Wilson, J.H.. (2008). Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. Nature Clinical Practice Gastroenterology & Hepatology, 5(4), 220–224. doi:10.1038/ncpgasthep1061