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Family Screening Letter

Dear Doctor,

A close relative of your patient has been diagnosed with coeliac disease
Have you considered screening your patient? 
  • 1st degree relatives have a 10% or greater chance of also being affected by coeliac disease.
  • Typical symptoms include gastrointestinal upset, lethargy or anaemia, but symptoms often go unrecognised, or the patient may be truly asymptomatic.
  • Early diagnosis and treatment of coeliac disease is important to reduce morbidity such as osteoporosis, malignancy, subfertility and general malaise.
  • Targeted screening is the most effective way to detect coeliac disease.

How to test:

  1. Confirm your patient is consuming a gluten-containing diet for accurate results (see over page for management if they are following a gluten free diet).
  2. Request the following blood tests:
    • Coeliac serology, specifically:
    1. Transglutaminase-IgA (tTG-IgA)
    2. Deamidated gliadin peptide-IgG (DGP-IgG)
    • HLA-DQ2/8 genotyping (also known as Coeliac disease HLA typing, useful when screening high-risk individuals e.g. those with a positive family history)

How to interpret:

  • If tTG-IgA and/or DGP-IgG is positive refer to a gastroenterologist for confirmatory small bowel biopsy. Serology alone is insufficient to diagnose coeliac disease.
  • A positive HLA-DQ2/8 gene test is not diagnostic of coeliac disease in isolation (approximately half of the general population are positive).
  • A negative HLA-DQ2/8 gene test has strong negative predictive value (<1% likelihood of coeliac disease being present) and means coeliac disease can be excluded.
  • If coeliac serology is negative but the patient is symptomatic and positive for HLA-DQ2 and/or HLA-DQ8 then consider referral to a gastroenterologist for further work-up.
  • A HLA-DQ2 and/or HLA-DQ8 positive relative with normal coeliac serology is at-risk for the future development of coeliac disease and follow-up is warranted. Repeat screening is recommended if they become symptomatic (suggestive symptoms indicated over the page).

Thank you for your care.

Yours sincerely,