Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib

This article considers the case of a 22-year-old female with congenital disorder of glycosylation type Ib and a history of congenital hepatic fibrosis, portal hypertension and esophageal varices, who presented with edema, diarrhea, hypoalbuminemia and pancytopenia. Protein-losing enteropathy was diagnosed. As previous mannose therapy was associated with diarrhea and abdominal pain, albumin was infused followed by intravenous and subcutaneous therapy with unfractionated heparin. 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 using 51 Cr-labeled albumin. Diagnosis Protein-losing enteropathy. Management Infusion of albumin followed by intravenous and subcutaneous therapy with unfractionated heparin.