Refractory celiac disease: from bench to bedside

Semin Immunopathol. 2012 Jul;34(4):601-13. doi: 10.1007/s00281-012-0322-z. Epub 2012 Jul 19.

Abstract

Refractory celiac disease is defined by the persistence of symptoms of malnutrition and intestinal villous atrophy for more than 6-12 months despite strict gluten-free diet in celiac patients. Diagnosis of this rare condition is made after excluding other causes of chronic small intestinal inflammation and villous atrophy and inadvertent intake of gluten. Over the past 15 years, multidisciplinary approaches have been developed to assess the mechanism of resistance to the diet, and two distinct entities have been delineated. Type II refractory celiac disease (RCD) can be defined as a low-grade intraepithelial lymphoma. RCD II is characterised by a massive accumulation of abnormal IEL that display an aberrant hybrid NK/T cell phenotype, contain clonal T cell rearrangement(s) and can mediate a cytolytic attack of the gut epithelium. This condition has a severe prognosis, largely due to the frequent transformation of RCDII IEL into overt aggressive enteropathy-type-associated T cell lymphoma. In contrast, in type I RCD, intestinal lymphocytes have a normal phenotype, and this generally milder condition remains often difficult to differentiate from uncomplicated CD except for the resistance to gluten-free diet (GFD). Several mechanisms may underlie resistance to gluten. Herein, we review the distinctive characteristics of RCD I and RCD II, the mechanisms underlying the onset of resistance to GFD, the risk of developing high grade lymphoma and possible clues to improve their treatment.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Celiac Disease / classification
  • Celiac Disease / diagnosis*
  • Celiac Disease / etiology*
  • Celiac Disease / therapy
  • Disease Susceptibility
  • Humans
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Translational Research, Biomedical