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          Patterns, pearls and practical medicine

Coeliac disease

  • A multisystem autoimmune disorder triggered by an aberrant adaptive immune response to gluten
  • Causes villous atrophy and malabsorption

Epidemiology

  • Prevalence is around 1% – and has increased significantly (bread and other foodstuffs contains much more gluten than in the past)
  • Around 75% is undiagnosed in UK. Delay in diagnosis often 10 years
  • Probably only more prevalent in Caucasians because of the diet, not necessarily genetics
  • Also high rates in India, Mexico, North Africa, Finland
  • More common in women
  • About 13% of the UK population think they have symptoms when they eat gluten (some of these have IBS)
  • If someone says they get symptoms after eating gluten – chance of Coeliac disease is 10%

Clinical features

  • Persistent / unexplained GI symptoms (test anyone with IBS)
      • Diarrhoea, steatorrhea, occasionally constipation
      • Abdominal pain
      • Bloating, flatulence
      • Dyspepsia
      • Nausea
  • Reduced growth in kids
  • Prolonged fatigue
  • Weight loss
  • Mouth ulcers
  • Unexplained iron, Vitamin B12 or folate deficiency
  • Dermatitis herpetiformis (itchy blistering rash often on elbows, knees, buttocks, back, and scalp)
  • Hyposplenism common (higher risk of pneumococcal sepsis)
  • Unexplained deranged LFTs
  • Metabolic bone disease
  • Unexplained neurological symptoms (ataxia, peripheral neuropathy)
  • Infertility or recurrent miscarriage
  • Dental enamel defects
  • Mild cognitive defects
  • Increased risk of GI malignancies
  • Mortality hazard ratio 1.4 x general population

Associations

  • T1 DM – prevalence of Coeliac is 4%
  • Autoimmune thyroid disease – if patients require high doses of levothyroxine, suspect Coeliac
  • Downs syndrome
  • Turners syndrome
  • IgA deficiency – in which case antibody tests can be falsely negative

Diagnosis

  • Screen for Coeliac if
      • Clinical features
      • A recognised associated disease
      • Family history
  • Bloods – also check TFTs, B12 and folate, haematinics, vitamin D, calcium, LFTs
  • Antibodies
      • Ensure patient not already on gluten free diet before testing. Otherwise false negatives can occur
      • Transglutaminase antibodies are the most useful screening test – Some tests are still positive if patient IgA deficient, others not – so consider checking immunoglobulins /total IgA too
      • Antibodies at 10 x upper limit of normal has a positive predictive value of 98% for villous atrophy on biopsy
      • Patients can spontaneously lose the antibody however without starting a gluten free diet
      • Result can be confirmed with IgA endomysium
      • Anti-endomysial antibodies are 95% sensitive and specific
      • Persistence of anti-endomysial antibodies 6/52 after starting a gluten free diet usually suggest poor compliance (but not always)
      • Gliadin antibodies not as good and no longer used
          • Elevated in 10% of normal people, and higher in those with GI symptoms but no Coeliac
          • Also associated with cerebellar ataxia of unclear cause which is occasionally treated successfully by a gluten free diet
  • Scope and biopsy
      • Gold standard for diagnosis is jejunal biopsy
      • If antibodies > 10x upper limit of normal (ULN), might be no need for biopsy / scope (although some still advise biopsy for all)
          • Positive predictive value of antibodies 10x ULN is 98% and specificity is 100%
          • Around 30% of those with Coeliac have antibody levels >10x ULN
          • Take patient views into account – some don’t want scopes
      • Biopsy advised if
          • Antibodies <10x ULN
          • Seronegative but there is clinical suspicion (eg signs and symptoms of malabsorption, or symptoms and a family history)
          • History of IgA deficiency
          • There is another reason for a scope
      • Look for macroscopic signs of villous atrophy
      • Can be diagnosed incidentally when scoping for something else
      • Around 12% of those with Coeliac’s will have had an OGD for GI symptoms in the 5 years before diagnosis, but no biopsy was taken
      • Patients are under-referred for scopes when serology is positive
      • Usually take 6 biopsies in total – can double diagnostic yield (many don’t get enough). 4 from D2 and 2 from the bulb (some patients only have atrophy in the bulb)
      • There is some variation in histopathologial assessment of biopsies
  • Piecing it together
      • Antibodies + villous atrophy = Coeliac Disease
      • Antibodies + normal bowel
          • Could be
              • Early coeliacs
              • False positive serology
              • Transient coeliac autoimmunity
          • Consider sending HLA DQ2 and DQ8
      • No antibodies + villous atrophy = seronegative enteropathy
  • A differential is non-Coeliac gluten sensitivity
      • Does exist, but unclear at present what’s going on
      • Most people however in RCTs who self-report gluten sensitivity don’t feel better without gluten if they don’t have Coeliac

Management

  • The aim to achieve symptom resolution and mucosal healing
  • Essentially one treatment – A gluten free diet (discovered in 1953!)
      • No wheat, rye or barley
      • Some people will find it difficult and restrictive. Some will be hypervigilant
      • It can sometimes trigger disordered eating
      • Gluten free foods can be more expensive
      • Dietician input helps
      • ‘Safe’ foods include rice, corn, buckwheat and potatoes
      • 80% of those exposed to gluten will get an acute response (nausea and vomiting, abdominal discomfort, diarrhoea) but symptoms might change with repeated exposure. 20% get no symptoms
  • Check bone health
      • DEXA scan for most newly diagnosed patients (do at one year, as a gluten free diet will help bones initially)
      • Probably only do DEXA if aged >30 (unless other risk factors)
      • Repeat DEXA after 3 years if persistent villous atrophy
  • Advise testing relatives – prevalence of coeliacs is 10% in first degree relatives
  • Can signpost to online resources or give written information
  • Pneumococcal vaccine to all newly diagnosed patients (as hyposplenic)
  • Surveillance
      • Usually review in 3-6 months after diagnosis – consider bloods at this stage, assess adherence (there is no test that will confirm this) and symptoms
      • How to ask about diet – The Biagi Questionnaire
          • Do you eat gluten voluntarily? (if yes: a normal portion or just a taste?)
          • When you eat out, do you tell the cook/waiter about your disease?
          • Do you check labels on food?
          • Do you only ever eat packaged food guaranteed by the coeliac association?
      • Repeat TTG levels
          • High levels don’t necessarily mean poor adherence to diet, and persistent high levels also don’t tell you about likelihood of persistent villous atrophy
          • Can send them, but don’t review result in isolation – make it part of a bigger clinical picture
      • Might not be practical to follow up all patients throughout their lives (and especially not if well controlled)
      • Routine re-biopsy not recommended
      • Patient who do need regular follow up
          • Persistent symptoms or signs
          • Poor adherence to diet (or those at risk of poor adherence)
          • Those with complications
      • If persistent symptoms
          • Check for persistent villous atrophy (although mucosal healing can take 1-2 years)
          • Rule out refractory coeliac (see below)
          • Consider non-coeliac causes – dysmotility, IBS, microscopic colitis, cancer (IBS and microscopic colitis are more prevalent in Coeliacs)

Persistent symptoms

  • Probably around 20% continue of have symptoms on a gluten free diet, and many of those have persistent villous atrophy (some do not)
  • Revisit initial diagnosis
  • Ensure up to date OGD and biopsies taken from duodenum
  • If duodenal inflammation, consider
      • Slow healing
      • Super-sensitivity
      • Gluten exposure (commonest cause) – get a dietetic review
      • Refractory Coeliac
  • If no inflammation
      • Dietician review and consider FODMAP trial
      • Consider CT, bloods, breath test, SeHCAT scan, colonoscopy, faecal elastase or calprotectin – all depends on symptoms
  • Refractory Coeliac’s (types 1 and 2)
      • Maybe occurs in 2% (depending on definition and study)
      • Type 1 has a better prognosis. Looks like active Coeliacs.
      • Type 2
          • Can have low albumin, weight loss, anaemia, extensive enteropathy (and more distal SB disease) and a high mortality (50% in 5 years)
          • Often Coeliacs was diagnosed at an older age
          • Can transform into enteropathy associated T cell lymphoma
          • Managed by specialists
          • Flow cytometry can help diagnosis
      • Can try budesonide (open capsule) for type 1 – histology improves in nearly 60%. Symptoms resolve in 50% and improve in 30%
      • Oral prednisolone occasionally used
      • Other therapies used in type 2 include cladribine, stem cell transplant, JAK inhibitors
      • Lots of others under investigation including endopeptidases, intestinal barrier modulation, TG2 inhibition, tolerance induction
      • Consider associated T cell lymphoma – survival rate is 10% at 5 years

 

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