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Adalimumab for the treatment of Crohn‐like colitis and enteritis in glycogen storage disease type Ib
Author(s) -
Davis M. K.,
Rufo P. A.,
Polyak S. F.,
Weinstein D. A.
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0774-9
Subject(s) - medicine , glycogen storage disease , crohn's disease , adalimumab , ulcerative colitis , inflammatory bowel disease , gastroenterology , immunology , azathioprine , neutropenia , disease , chemotherapy
Summary Glycogen storage disease (GSD) type Ib is a congenital disorder of glycogen metabolism that is associated with neutropenia, neutrophil dysfunction, and an inflammatory bowel disease that mimics a Crohn phenotype. Gastrointestinal inflammation in GSD Ib has been successfully treated with 5‐aminosalicylic acid and granulocyte colony‐stimulating factor (G‐CSF). However, therapeutic options for patients not responding to traditional therapies have been limited owing to untoward effects of glucocorticoids and immunomodulators in this metabolic disorder. Adalimumab is a monoclonal antibody targeting tumour necrosis factor‐α that has shown promise for the treatment of patients with Crohn disease. Due to the limited options for treating GSD‐associated inflammatory bowel disease, use of adalimumab was attempted in a case unresponsive to aminosalicylate, G‐CSF, and antibiotic therapy. Significant clinical and histological improvement was observed in our patient, and the medication was well tolerated.