Description

• An immune disorder triggered by an environmental agent (the gliadin component of gluten) in a genetically predisposed individual:
  • Seen primarily in whites of northern European ancestry
• Celiac presentations:
  • Typical:
    • Celiac disease is classically a diarrhea illness characterized by villous atrophy with symptoms of malabsorption (steatorrhea, weight loss, vitamin deficiencies, anemia) with resolution of symptoms with a gluten-free diet.
  • Atypical:
    • Patients only exhibit only minor GI symptoms, but note a myriad of extraintestinal symptoms (e.g., anemia, dental enamel defects, neurologic symptoms, infertility).
  • Asymptomatic (silent) disease:
    • Usually found when screening 1st-degree relatives.
  • Latent:
    • Positive genetics, without signs/symptoms.
• System(s) affected: Gastrointestinal
• Synonym(s): Sprue; Gluten enteropathy; Celiac sprue

Epidemiology

• Disease primarily of individuals of Northern European ancestry
• Predominant sex: Female > Male (3:2)

• ~1/133–160 persons in the US (1)
• An estimated 3 million Americans have celiac disease.

Risk Factors

• 1st-degree relatives: 10% incidence
• 71% in monozygotic twins

Genetics
Homogenicity for HLA-DQ2 increases the risk of celiac disease and enteropathy associated T-Cell lymphoma.

General Prevention

Avoid all gluten-containing products (wheat, barley, rye, and possibly oat products).

Etiology

Sensitivity to gluten, specifically gliadin fraction

Commonly Associated Conditions

• Dermatitis herpetiformis: Very strong association with celiac disease (2)
• May have secondary lactase deficiency
• Extraintestinal manifestation may include marked decrease in bone density.
• Autoimmune thyroiditis
• Diabetes, type 1: Prevalence of celiac disease in type 1 diabetes is 3–8%.
• Elevated AST and ALT
• Recurrent fetal loss/infertility
• Irritable bowel syndrome (IBS)
• Restless leg syndrome
• GI lymphoma: Celiac disease is associated with both Hodgkin and non-Hodgkin lymphomas:
  • Particular increase in prevalence of T-cell non-Hodgkin lymphoma (3)
  • Recent studies show the risk of lymphoproliferative malignancies in celiac disease is dependent on small intestinal histopathology.
  • There appears to be little to no increased risk in latent celiac disease (seropositive, but normal biopsy) (4)[C].
• Migraine (more prevalent in patients with celiac disease) (5)

• Celiac disease may be an under appreciated cause of male and female infertility.
• Consider celiac disease in pregnant women with severe anemia.