Refractory celiac disease.
Celiac disease (CD) is a small intestinal inflammatory disorder characterized by an immune-mediated enteropathy triggered by the ingestion of wheat gluten or related rye and barley proteins in genetically predisposed individuals carrying the human leukocyte antigens (HLA)-DQ2 or -DQ8. Nonresponsive CD (NRCD) is a clinical diagnosis defined by the persistence of signs, symptoms, and/or laboratory abnormalities typical of CD despite adherence to a gluten-free diet for at least 6 months. One cause for NRCD is refractory CD (RCD), defined as the persistence of severe villous atrophy on small intestinal biopsy despite strict gluten withdrawal for at least 6 months with no evidence of other pathology. Although rare, RCD should be suspected in individuals with an established diagnosis of CD who fail to respond primarily or secondarily to a strict gluten-free diet, particularly if they manifest significant weight loss. A thorough evaluation must be performed to distinguish RCD from other causes of NRCD. RCD may be categorized into type I or type II. Type I RCD has a more favorable prognosis compared with type II and can often be managed with nutritional supplementation and possibly low level immunosuppressive therapy. Type II RCD carries a poor prognosis and is more likely to progress to life-threatening malnutrition or intestinal T-cell lymphoma. Immunosuppressive agents and, more recently, autologous stem cell transplant have been used to treat type II RCD.
Abdallah
Hani
H
The Celiac Center, Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Avenue, Boston, MA 02215, USA.
Leffler
Daniel
D
Dennis
Melinda
M
Kelly
Ciarán P
CP
D002446:Celiac Disease / Q000150:complications / Q000178:diet therapy* / Q000188:drug therapy / Q000276:immunology*; D005260:Female; D005983:Glutens / Q000276:immunology / Q000378:metabolism*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007413:Intestinal Mucosa / Q000276:immunology / Q000473:pathology; D008297:Male; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D017211:Treatment Failure
D007166:Immunosuppressive Agents; D005983:Glutens