Coeliac Disease

Symptoms vary widely from person to person and may be mild, or even absent.

Signs and symptoms of coeliac disease include:

• Abdominal pain and distension
• Iron-deficiency anaemia that does not respond to iron supplements
• Bleeding tendency
• Bloody stool
• Bone and joint pain
• Changes in dental enamel
• Diarrhoea
• Fatigue
• Flatulence
• Greasy foul-smelling stools
• Mouth ulcers
• Vomiting
• Weakness
• Weight loss

Patients with untreated coeliac disease will not typically have all of these symptoms, but may have a selection from this list. These symptoms are present in a variety of other conditions, and so a diagnosis of coeliac disease may be missed or delayed -- sometimes for years. Children with coeliac disease may experience failure to thrive, delayed growth and development, delayed onset of puberty, and short stature. Adults with untreated coeliac disease may also experience infertility. Some patients with coeliac disease have dermatitis herpetiformis, a disease that causes itchy blisters on the skin. There is also an increased risk for developing osteoporosis and intestinal lymphoma, a form of cancer.

A number of autoantibodies not normally present in the blood may be detected in sufferers of this condition:

• Anti-tissue Transglutaminase Antibody (tTG): Tissue transglutaminase is an enzyme responsible for crosslinking (joining) certain proteins, and is found in the gut as well as in other tissues. It has been identified as the target molecule for the anti-endomysial antibodies. Although “tissue” is in the name of this autoantibody, it nevertheless involves testing blood and not tissue.
• Anti-Endomysial Antibodies (EMA): Endomysium is the thin connective tissue layer that covers individual muscle fibres. Anti-endomysial antibodies develop as part of the ongoing damage to the intestinal lining.
• Anti-gliadin and anti-reticulin antibodies are autoantibodies that have been used to evaluate suspected coeliac disease in the past. However these tests have both been superceded by anti-EMA and anti-tTG antibodies, and are no longer used in the UK.

There are 5 isotypes of antibody (IgG, IgA, IgM, IgD and IgE) in the body. Both IgG and IgA types of each autoantibody will often be present in the blood, and may be tested for. In many laboratories IgA antibodies are used as the first line test for coeliac disease, with other antibody tests being performed only when required (e.g. if the patient has IgA deficiency, which is more common in coeliac disease than the general population).

In the UK, the National Institute for Health and Clinical Excellence (NICE) recommends serological testing for IgA tTG as first choice, followed by IgA EMA testing if the result is equivocal. If both tests are negative, IgA deficiency should be tested for before moving on to IgG serological tests if this is the case.

In the past, the only way to diagnose coeliac disease was to take a biopsy (small piece of tissue) from the small intestine and to examine it under the microscope. This method is still used to confirm a diagnosis of coeliac disease in adults, but the availability of less invasive blood tests used to screen for coeliac disease has reduced the number of biopsies required for this purpose.

People should continue to follow a gluten containing diet during the diagnostic process; otherwise the accuracy of both serological tests and biopsies may be adversely affected.

Genetic markers that are strongly associated with coeliac disease exist, and include the Human Leukocyte Antigen (HLA) markers DQ2 and DQ8. The british and European guidance on testing was updated in the last few years. If a child has high levels of tTg antibodies (>10 x ULN) and is positive for EMA and on testing has the relevant genetic predisposition (specific DQ2 or DQ8 genes) then a biopsy is not required to make the diagnosis of coeliac. The combination of tests makes a false positive very unlikely. It is worth noting that a variety of DQ2 and DQ8 genetic forms exist and not all confer the same degree of risk for coeliac disease. It is recommended therefore that only specialist labs undertake testing and that results are clearly interpreted

Other tests used to evaluate the severity of the disease include:

• FBC (full blood count) to look for anaemia
• ESR (erythrocyte sedimentation rate) to evaluate inflammation
• CRP (C-Reactive protein), a more sensitive measure of inflammation
• Biochemistry testing to determine sodium, potassium, calcium, and protein concentrations, and to check kidney and liver function
• Iron, Vitamin B12 and folate, ferritin, Vitamins D, E to check for mineral and vitamin deficiencies

People with coeliac disease must follow a lifelong gluten-free diet. This usually requires consultation with a dietician and a careful review of food ingredients to be successful. Once all forms of wheat, rye, and barley have been removed from the diet, autoantibody concentrations in the blood will begin to fall and the intestine will heal.

While most if not all of the intestinal damage caused by coeliac disease is reversible, some effects of prolonged malnutrition and malabsorption – such as short stature and weakened bones – may be permanent. It is therefore important to detect and treat coeliac disease as soon as possible, especially in young children. In most cases, those on a strict gluten-free diet will remain healthy and symptom-free and can live a relatively normal life. However, if a person begins to consume gluten-containing foods again, within a short period of time both the symptoms of coeliac disease and the damage to the gut wall will return. Even people with few or no symptoms can have intestinal damage and, over time, may develop complications such as nutritional deficiencies and decreased bone mineral density.

A small percentage of those affected by coeliac disease do not respond to a gluten-free diet and/or may have irreversible damage to the intestine. These people may require additional medical interventions and nutritional support.