Coeliac disease

Coeliac disease (coeliac sprue’ or ‘gluten-sensitive enteropathy) is an inflammatory condition of the small intestine mucosa caused by ingestion of glutamine-rich and proline-rich proteins in genetically susceptible individuals (related to possession on particular HLA class II molecules) (1,2)

• the mucosal lesions seen on upper GI biopsy are the result of an abnormal, genetically determined, cell-mediated immune response to gliadin, a constituent of the gluten found in wheat (gluten is not found in rice and maize).
• a similar response occurs to comparable proteins found in rye and barley.

Coeliac disease was first identified by Samuel Gee in 1888. However, it was W. Dicke in the 1950s who identified the dietary link, noting that patients with this condition were apparently cured by the deprivations of World War II, but relapsed when rationing was abolished.

Note the threshold amount of gluten in 'gluten-free' products that can be tolerated by people with coeliac disease is unclear:

• the amount of tolerable gluten varies among people with coeliac disease. Although there is no evidence to suggest a single definitive threshold, a daily gluten intake of <10 mg is unlikely to cause significant histological abnormalities (3)

With respect to screening for Coeliac disease, NICE have suggested (4):

• Offer serological testing for coeliac disease to:
  
  
  • people with any of the following:
    • persistent unexplained abdominal or gastrointestinal symptoms
      
    • faltering growth prolonged fatigue
      
    • unexpected weight loss
      
    • severe or persistent mouth ulcers
      
    • unexplained iron, vitamin B12 or folate deficiency
      
    • type 1 diabetes, at diagnosis
      
    • autoimmune thyroid disease, at diagnosis
      
    • irritable bowel syndrome (in adults)
      
      
  • first-degree relatives of people with coeliac disease
    
    
• Consider serological testing for coeliac disease in people with any of the following:
  
  Healthcare professionals should have a low threshold for re-testing people identified in recommendations if they develop any symptoms consistent with coeliac disease
  • metabolic bone disorder (reduced bone mineral density or osteomalacia)
    
  • unexplained neurological symptoms (particularly peripheral neuropathy or ataxia)
    
  • unexplained subfertility or recurrent miscarriage
    
  • persistently raised liver enzymes with unknown cause
    
  • dental enamel defects
    
  • Down's syndrome
    
  • Turner syndrome

A review notes (5):

• Coeliac disease is a common autoimmune disease with a prevalence of approximately 1%
• risk of Coeliac disease for first-degree family members (parents, siblings, and children) is 10 to 20%
• prevalence of celiac disease is increased among patients with Down’s syndrome or Turner’s syndrome (2 to 5%), probably owing to abnormal immune responses related to chromosomal instability
• the presence of genes encoding HLA-DQ2 or HLA-DQ8 is a prerequisite for Coeliac disease
  • these haplotypes occur in 30 to 45% of persons in most populations, so only 3 to 4% of those with these haplotypes will eventually have Coeliac disease
• the disease process is driven by gluten from wheat, rye, and barley and is caused by a reaction to gliadins and analogous proteins that have not degraded completely in the gastrointestinal tract
• there is evidence that a no-biopsy approach can provide a reliable Coeliac disease diagnosis when the tTG (transglutaminase)-IgA level is at least 10 times the upper limit of the normal range (ULN), which accounts for 40 to 70% of the cases in children
  • a subsequent endomysial antibody–positive test (with high specificity) may lead to positive predictive values of 99.8%, which is similar to or better than that of histologic analysis
• in Coeliac disease, a gluten-free diet is the mainstay of treatment, but some adults have nonresponsive coeliac disease, which warrants closer monitoring because of an increased risk of malignant conditions
• Coeliac disease also frequently co-occurs with other autoimmune disorders, such as type 1 diabetes mellitus and autoimmune thyroid disease

Notes:

• study evidence showed that individuals with coeliac disease had a lower prevalence of traditional cardiovascular risk factors but had a higher risk of developing cardiovascular disease than did people with no coeliac disease (6)

Reference:

1. British Society of Gastroenterology (BSG) 2010. The management of adults with coeliac disease
2. Di Sabatino A, Corazza GR. Coeliac disease. Lancet. 2009;373(9673):1480-93.
3. Akobeng AK et al. Systematic review: tolerable amount of gluten for people with coeliac disease. Aliment Pharmacol Ther. 2008 Jun 1;27(11):1044-52.
4. NICE. Coeliac disease: recognition, assessment and management. NICE guideline NG20. Published September 2015
5. Murray JA. Celiac disease. N Engl J Med 2026;394:1421-1429.
6. Conroy M et al. Association between coeliac disease and cardiovascular disease: prospective analysis of UK Biobank data. BMJ Medicine 2023;2:e000371.