Coeliac Disease

Coeliac disease is an autoimmune condition in which the immune system reacts abnormally to gluten—a protein found in wheat, barley, and rye. This reaction damages the lining of the small intestine, particularly the villi, which are responsible for absorbing nutrients. As a result, nutrient absorption is impaired. The condition presents with a range of digestive and non-digestive symptoms, and many cases remain undiagnosed. Without treatment, coeliac disease can lead to several health complications.

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Dr. Chok Aik Yong
MBBS | MRCS (UK) | MMed (Surgery) | FRCS (UK)

Symptoms of Coeliac Disease

Coeliac disease presents with various symptoms affecting multiple body systems beyond the digestive tract. Common symptoms include:

  • Digestive Discomfort

    Patients often experience diarrhoea, bloating, gas, abdominal pain, and nausea. These symptoms typically occur after consuming gluten and may vary in intensity.

  • Fatigue and Weakness

    Many patients report persistent tiredness and lack of energy. This results from nutrient malabsorption, particularly iron, leading to anaemia.

  • Weight Loss

    Unexplained weight loss occurs despite normal food intake. This happens because damaged intestinal villi cannot properly absorb nutrients from food.

  • Skin Rash

    Dermatitis herpetiformis presents as an itchy, blistering rash typically on the elbows, knees, and buttocks. This distinctive skin manifestation is associated with coeliac disease.

  • Neurological Problems

    Some patients experience headaches, balance issues, peripheral neuropathy, and cognitive impairment. These symptoms stem from either nutritional deficiencies or direct immune effects on the nervous system.

  • Bone and Joint Pain

    Calcium and vitamin D malabsorption can lead to osteopenia, osteoporosis, and joint pain. Regular bone density screening may be recommended for people with coeliac disease.

  • Dental Issues

    Enamel defects, delayed tooth eruption, and recurrent aphthous ulcers may occur. These dental manifestations often develop during tooth formation in childhood.

  • Reproductive Issues

    Women may experience menstrual irregularities, infertility, or recurrent miscarriages. Men may face reduced fertility and hormonal imbalances.

Causes and Risk Factors

Coeliac disease develops through a combination of genetic, immunological, and environmental factors that trigger the autoimmune response.

  • Genetic Predisposition

    Most patients carry either HLA-DQ2 or HLA-DQ8 genes. These genes are present in a significant portion of the population, but only a small fraction of people with these genes develop coeliac disease.

  • Gluten Exposure

    Consumption of gluten-containing foods acts as the environmental trigger. Each exposure to gluten activates the immune response in susceptible individuals.

  • Family History

    First-degree relatives (parents, siblings, and children) of individuals with coeliac disease have an elevated risk of developing the condition compared to the general population.

  • Other Autoimmune Conditions

    Patients with type 1 diabetes, autoimmune thyroid disease, or rheumatoid arthritis have a higher risk. The shared genetic and immunological pathways contribute to this association.

  • Intestinal Infections

    Certain gastrointestinal infections may trigger coeliac disease in genetically susceptible individuals. These infections may temporarily increase intestinal permeability.

  • Pregnancy

    Some women develop coeliac disease during or shortly after pregnancy. Hormonal changes may contribute to triggering the autoimmune response.

Diagnostic Methods

Blood Tests

Serological screening measures antibodies associated with coeliac disease, serving as the initial diagnostic step. The most common tests include tissue transglutaminase antibodies (tTG-IgA) and endomysial antibodies (EMA), which have high sensitivity and specificity for the condition. Total IgA levels are typically measured alongside these tests to ensure accurate interpretation of results.

Intestinal Biopsy

Endoscopic duodenal biopsy is the standard test for confirming coeliac disease diagnosis. Multiple tissue samples are collected from the small intestine to examine for characteristic changes, including villous atrophy and increased intraepithelial lymphocytes. Patients must continue consuming gluten before this procedure to ensure accurate results.

Genetic Testing

HLA-DQ2 and HLA-DQ8 typing is beneficial for ruling out coeliac disease when negative, as most patients carry one or both of these genetic markers. This test helps narrow the diagnosis in ambiguous cases and can be valuable for assessing risk in family members of diagnosed patients. While not diagnostic on its own, genetic testing provides supporting evidence in the diagnostic process.

Treatment Options

Treatment for coeliac disease focuses on eliminating gluten from the diet and addressing nutritional deficiencies to allow intestinal healing and symptom resolution.

Strict Gluten-Free Diet

Complete elimination of wheat, barley, and rye from all food, medications, and supplements forms the main treatment approach. This involves reading all food labels, learning about hidden sources of gluten, and recognising cross-contamination risks. Most patients notice symptom improvement within weeks, though complete intestinal healing may take 1-2 years.

Nutritional Supplements

Patients often require supplements to correct deficiencies developed before diagnosis. Common supplements include iron, calcium, vitamin D, B vitamins (especially B12), zinc, and magnesium. Regular blood testing helps monitor nutrient levels and adjust supplementation as needed during the healing process.

Medication for Refractory Cases

For patients with refractory coeliac disease, corticosteroids or immunosuppressants may be prescribed. These medications aim to reduce intestinal inflammation and control symptoms when diet alone proves insufficient. Type 2 refractory disease often requires more aggressive treatment approaches due to its association with lymphoma risk.

Regular Follow-up

Ongoing monitoring includes periodic antibody testing, assessment of symptoms, and occasionally repeat biopsies. Follow-up helps confirm dietary compliance, evaluate intestinal healing, and detect complications early. Annual checkups typically include comprehensive nutritional assessments and screening for associated conditions.

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Prevention and Management

While coeliac disease cannot be prevented due to its genetic basis, effective management focuses on maintaining a strict, lifelong gluten-free diet that prevents symptoms and allows intestinal healing. Regular medical consultations help monitor the condition and address nutritional deficiencies. Patients should maintain vigilance when dining out by researching options ahead of time, communicate their needs clearly in social situations, and attend annual check-ups to screen for associated conditions such as thyroid disorders and osteoporosis.

Frequently Asked Questions (FAQ)

Can coeliac disease develop at any age?

Coeliac disease can develop and be diagnosed at any age. Some people show symptoms in early childhood after their first exposure to gluten. Others develop the condition in adulthood or even in their senior years. This delayed onset may follow a trigger such as surgery, pregnancy, childbirth, viral infection, or severe emotional stress.

Is coeliac disease the same as wheat allergy or gluten sensitivity?

Coeliac disease differs from wheat allergy and non-coeliac gluten sensitivity. Wheat allergy involves an immune response to wheat proteins and can cause immediate reactions. Non-coeliac gluten sensitivity produces similar symptoms to coeliac disease but without the intestinal damage or specific antibodies. Each condition requires different management approaches despite similar dietary restrictions.

How does coeliac disease impact pregnancy?

Untreated coeliac disease increases the risk of infertility, miscarriage, preterm birth, and low birth weight babies. Women with properly managed coeliac disease on a strict gluten-free diet typically experience normal fertility and pregnancy outcomes. Nutritional status should be prepared before conception, with particular attention to folate, iron, calcium, and vitamin D levels throughout pregnancy.

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Dr. Chok Aik Yong

MBBS|MRCS (UK)|MMed (Surgery)|FRCS (UK)

Expertise lies in managing colorectal diseases, particularly advanced colorectal cancer and inflammatory bowel disease.

  • Dr Chok graduated with degrees in Bachelor of Medicine and Surgery from the National University of Singapore. He was conferred the Master of Medicine (Surgery) in Edinburgh (UK) and a member of the Royal College of Surgeons, UK. He subsequently completed his specialist training in colorectal surgery and became a Fellow of the royal college of Surgeons in Edinburgh in 2016.
  • Dr Chok was awarded the Health Manpower Development Plan (HMDP) award in 2019 to further advance his colorectal training at Royal Marsden Hospital, one of the top 5 cancer centres in the world. While in London, Dr Chok trained with pioneers in the surgical management of advanced colorectal cancer and inflammatory bowel disease (IBD) and gained extensive experience while appraising the latest clinical and research evidence.
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