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Coeliac Disease

Maladywise

The deglutening begins. Debreadify or die. Fast from pasta. Run from the wheatness. The antidisestablishbreadarianism.

PATHOPHYSIOLOGY: Immune-mediated permanent intolerance to gluten

INCIDENCE: 1%

SYMPTOMS: Most adults are symptom free. Consider Coeliac if:

  • Unexplained iron, vitamin B12, or folate deficiency

  • Anaemia

  • Osteoporosis, osteopenia, vitamin D deficiency

  • Diarrhoea with or without malabsorption

  • Abdominal pain, bloating, and flatulence

  • Weight loss or faltering growth

  • Severe or persistent mouth ulcers

RISK FACTORS:

  • Dermatitis herpetiformis

  • Type 1 diabetes (at least 6% have coeliac disease)

  • Immunoglobulin A (IgA) deficiency

  • Down syndrome

  • Turner syndrome

  • Thyroid disease

  • Low impact fracture or osteoporosis

  • Infertility or recurrent miscarriage

  • Abnormal LFTs

  • Undefined neurological disorder or epilepsy

  • Family history of coeliac disease – 10% prevalence in first degree relatives, but higher if more than one relative with the disease

INVESTIGATIONS:

  • Check that the patient is eating a diet containing gluten before performing any tests e.g. 2 slices of bread per day for 2 to 8 weeks.

  • IgA tissue transglutaminase antibodies (IgA tTG) is the preferred initial test for coeliac disease. Sensitivity 93%, specificity 99%.3

  • Total IgA - it is important to rule out an IgA deficiency

  • Alternatively, you can rule out coeliac disease by arranging HLA DQ gene test.

  • Full blood count (FBC), liver function tests, iron studies, folate, B12, vitamin D, zinc.

DIAGNOSIS: Gastroscopy and duodenal biopsy. Positive serology needs biopsy for confirmation. If positive serology or high index of clinical suspicion, refer for gastroscopy and small bowel biopsy for diagnosis.

MANAGEMENT:

  • Advise a strict gluten-free diet

  • Arrange other investigations if not done

    • DXA bone density scan

    • Calcium, phosphate, zinc, vitamin D, parathyroid hormone

    • Thyroid function tests

    • Liver function tests

  • Treat any deficiencies.

  • Suggest testing all first degree relatives.

  • If bowel symptoms persist despite gluten-free diet, consider additional diagnoses.

  • Annual review and bloods

ASSOCIATIONS:

Glands (Endocrine system)

  • Autoimmune thyroid disease

  • Type 1 diabetes

  • Addison’s disease (insufficient adrenal hormones)

  • Sjogren’s syndrome (dry mouth and eyes)

  • Amenorrhoea (absent menstrual periods)

Joints (Rheumatological)

  • Polyarthritis (arthritis in 5 or more joints) and rheumatoid arthritis (inflammation of joints and other organs)

  • Lupus (body attacks healthy tissue and organs)

  • Sarcoidosis (inflamed nodules usually in lungs or lymph nodes)

Blood (Haematological)

  • Anaemia (iron or B12 deficiency)

  • Chronic thrombocytopaenic purpura (low platelets)

Gastrointestinal

  • Lactose intolerance

  • Pernicious anaemia (inability to absorb B12)

  • Pancreatic insufficiency (inability to properly digest food)

  • Microscopic colitis (watery diarrhoea)

  • Gastrointestinal cancers

Bone

  • Premature osteopaenia (low bone mineral density) and osteoporosis

  • Low trauma fracture

  • Rickets or osteomalacia (caused by low vitamin D)

Liver

  • Abnormal liver function tests

  • Autoimmune hepatitis

  • Primary biliary cirrhosis (blocked bile ducts)

  • Primary sclerosing cholangitis (scarring of bile ducts)

Nervous system

  • Multiple Sclerosis

  • Neuropathy (breakdown of the nervous system)

  • Epilepsy

  • Depression

Skin and mouth

  • Dermatitis herpetiformis (chronic, intensely itchy skin rash)

  • Alopecia (hair loss)

  • Dental enamel defects

  • Mouth ulcers

Reproductive system

  • Infertility

  • Recurrent miscarriage

Other

  • Lymphoma

  • Pneumococcal pneumonia (pneumonia of upper respiratory tract)

  • Down’s syndrome

  • Turner’s syndrome (missing or abnormal X chromosome in women)

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