Coeliac disease

Question 1

Definition of Coeliac Disease

Answer 1

Coeliac disease is a systemic autoimmune disease triggered by dietary gluten peptides found in wheat, rye, barley, and related grains.

Question 2

Epidemiology of Coeliac disease

Answer 2

• Mostly women are affected

Question 3

Aetiology/Risk Factors

Answer 3

Almost all people with coeliac disease carry one of two MHC-II molecules (HLA-DQ2 or -DQ8) that are required to present gluten peptides.

Risk Factors:

• FHx of Coeliac disease
• IgA deficiency
• Type 1 Diabetes Mellitus
• Autoimmune thyroid disease
• Down’s syndrome, Turner syndrome, or Williams syndrome

Question 4

Presenting symptoms

Answer 4

• Chronic/Recurring Diarrhoea: There may be steatorrhea
• Abdominal bloating
• Unexplained acid reflux
• Abdominal discomfort/cramping
• Osteopenia/Osteoporosis (bone pain, recent fracture) due to lack of Vitamin D
• Anaemia Sx: Fatigue (may be depression, thyroid)
• Failure to thrive (faltering growth, delayed puberty)

Question 5

Signs on Physical Examination

Answer 5

• Dermatitis herpetiformis - rash on extensory surfaces
• Peripheral neuropathy (due to lack of B12 absorption)

Question 6

Investigations

Answer 6

• Measure height and weight (in children)
• (1st LINE) anti-tissue Transglutaminase IgA + IgA levels (tTG): elevated – not diagnostic
  
  • Ensure that the person has eaten gluten-containing foods daily for at least 6 weeks, before testing is performed.
• anti- Endomysial antibody IgA (2nd line, if tTGA unavailable)
• In IgA deficient pts: IgG anti-deaminated gliadin peptide (DGP)
• Arrange gastroenterology referral if strong suspicion/+ve serology for bowel endoscopy & BIOPSY:
  
  • Endoscopy may be normal in a lot of pts
  • BIOPSY (DIAGNOSTIC!) shows:
    
    • intra-epithelial lymphocytes
    • Villous atrophy
    • Crypt hyperplasia
• Mineral deficiency screen:
  
  • Serum Calcium & Vitamin D, Iron, Folate/B12

Question 7

Generate a management plan for coeliac disease

Answer 7

• Gluten-free diet (even if awaiting specialist appt)
  
  • NHS website has advice for gluten-free food
  • Coeliac UK website
  • may require dietician help
• Referral to dermatologist if dermatitis herpetiformis
• Arrange for a person with confirmed coeliac disease to be reviewed at least annually in primary care.
• Vitamin/Electrolyte deficiency correction:
  
  • Calcium and Vitamin D are necessary
  • Ferrous sulfate if Iron deficient
  • Folate/B12 should be corrected if present

Question 8

Complications

Answer 8

• Coeliac crisis is rare and presents with hypovolaemia, severe watery diarrhoea, acidosis, hypocalcaemia, and hypoalbuminaemia.
• Patients are often emaciated and have nutritional deficiencies caused by long-standing, untreated coeliac disease.
  
  • Rehydration & correcting deficiency
  • Steroid (budesonide)

Question 9

Who to test for coeliac antibodies?

Answer 9

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 (Hashimoto’s, Graves’)
• irritable bowel syndrome (in adults)
• first‑degree relatives of people with coeliac disease