Coeliac Disease Diagnosis: Symptoms, Tests, and What to Expect

Coeliac disease is a serious autoimmune condition where your immune system reacts to gluten, a protein found in wheat, barley, and rye. This reaction damages the lining of your small intestine, hindering your body’s ability to absorb nutrients properly. Recognizing the symptoms and undergoing timely Coeliac Disease Diagnosis is crucial for managing the condition and preventing long-term health complications.

You should consider getting tested for coeliac disease if you experience any of the following persistent symptoms:

  • Persistent and unexplained gastrointestinal issues: This can include diarrhoea, stomach pain, bloating, and excessive gas. These are often the most common and noticeable symptoms.
  • Faltering growth in children: Coeliac disease can impair nutrient absorption, leading to poor growth and development in children.
  • Persistent fatigue: Feeling tired all the time, even after adequate rest, is a common symptom. This fatigue is often linked to nutrient deficiencies caused by malabsorption.
  • Unintentional weight loss: Despite eating normally, you might experience unexplained weight loss due to the body’s inability to absorb calories and nutrients effectively.
  • Severe or recurring mouth ulcers: Mouth ulcers that are persistent or keep coming back can be a sign of coeliac disease.
  • Unexplained anaemia: Specifically, iron deficiency anaemia, or vitamin B12 or folate deficiency anaemia. Coeliac disease can interfere with the absorption of these essential nutrients, leading to anaemia.
  • Type 1 diabetes: There’s a known association between coeliac disease and type 1 diabetes, making testing advisable for individuals with type 1 diabetes.
  • Autoimmune thyroid disease: Including both hypothyroidism (underactive thyroid) and hyperthyroidism (overactive thyroid). The presence of one autoimmune condition increases the risk of developing another.
  • Irritable Bowel Syndrome (IBS) in adults: Particularly if experiencing new or worsening IBS symptoms, coeliac disease testing is recommended to rule it out as the underlying cause.

Testing for coeliac disease is also strongly recommended if you have a first-degree relative (parent, sibling, or child) who has already been diagnosed with the condition, as there is a genetic component to coeliac disease.

The Diagnostic Process: Blood Tests and Biopsy for Coeliac Disease

The process of coeliac disease diagnosis typically involves a combination of blood tests and, in many cases, a biopsy of the small intestine. It’s vital to continue eating a diet containing gluten during the testing phase to ensure accurate results. Starting a gluten-free diet before testing can lead to false negatives and delay proper diagnosis. It is crucial to wait for a confirmed diagnosis from a specialist before making any significant dietary changes like adopting a gluten-free diet, even if initial blood tests suggest coeliac disease.

Blood Test for Coeliac Disease

The first step in diagnosing coeliac disease is usually a blood test, which can be arranged by your General Practitioner (GP). This blood test looks for specific antibodies that are commonly found in the blood of people with coeliac disease. These antibodies are produced by the immune system in response to gluten.

It’s essential to maintain a diet that includes gluten when you undergo the blood test. Avoiding gluten before the test can result in an inaccurate negative result, even if you have coeliac disease, as the antibody levels may decrease.

If the blood test detects coeliac disease antibodies, your GP will typically refer you to a gastroenterologist. A gastroenterologist is a doctor who specializes in conditions affecting the digestive system, including the stomach and bowels. The specialist may order further blood tests to get a more detailed antibody profile or recommend a biopsy of your small intestine to confirm the diagnosis.

However, it’s important to note that in some instances, individuals can have coeliac disease and still not have these antibodies detectable in their blood. This is known as seronegative coeliac disease. Therefore, if you continue to experience symptoms suggestive of coeliac disease, even with a negative blood test result, your GP may still refer you to a specialist for further investigation.

Biopsy for Coeliac Disease

A biopsy is often the next step to definitively confirm a coeliac disease diagnosis, especially if blood tests are positive or if symptoms persist despite negative blood tests. This procedure is usually performed in a hospital setting by a gastroenterologist. A biopsy involves taking small tissue samples from the lining of your small intestine to be examined under a microscope for signs of damage characteristic of coeliac disease.

Alt text: Illustration depicting an endoscopy procedure, showing a thin tube with a camera being inserted through the mouth into the small intestine for coeliac disease biopsy.

During the biopsy, a thin, flexible tube called an endoscope, equipped with a light and a camera at its tip, is carefully inserted through your mouth and gently passed down into your small intestine. To ensure your comfort during the procedure, you will usually be given a local anaesthetic to numb your throat, and you might also receive a sedative to help you relax.

Once the endoscope is positioned in the small intestine, the gastroenterologist uses a tiny biopsy tool passed through the endoscope to collect small samples of the intestinal lining. These samples are then sent to a laboratory and examined under a microscope by a pathologist. The pathologist will look for specific changes in the intestinal lining that are indicative of coeliac disease, such as villous atrophy (damage to the villi, the small finger-like projections that line the small intestine).

Tests After Coeliac Disease Diagnosis

Following a confirmed coeliac disease diagnosis, you may undergo additional tests to evaluate how the condition has affected your overall health. These tests help to identify and address any complications arising from nutrient malabsorption caused by coeliac disease.

Further blood tests are commonly conducted to check the levels of iron, vitamins, and minerals in your blood. This assessment helps determine if coeliac disease has led to deficiencies, such as iron deficiency anaemia, due to the reduced absorption of nutrients in the small intestine.

If you present with symptoms of dermatitis herpetiformis, a specific itchy skin rash associated with coeliac disease, you might have a skin biopsy to confirm this condition. A skin biopsy for dermatitis herpetiformis is performed under local anaesthetic and involves taking a small skin sample for microscopic examination.

A DEXA scan, or bone density scan, may also be recommended by your GP, particularly if there’s a concern that coeliac disease might have impacted your bone health. Coeliac disease-related malabsorption can weaken bones and increase the risk of osteoporosis, a condition characterized by brittle bones and increased fracture risk. A DEXA scan is a type of X-ray that measures bone density to assess your risk of fractures as you age.

Local Support Groups and Resources

Being diagnosed with coeliac disease can be overwhelming initially. Adapting to a gluten-free diet can be challenging, especially if you’ve consumed gluten-containing foods for a long time. In the early stages after diagnosis, many individuals may inadvertently consume gluten, leading to a recurrence of symptoms.

Local coeliac disease support groups can provide invaluable assistance and information. These groups offer a platform to learn more about coeliac disease, share experiences, and receive practical advice on managing a gluten-free diet effectively.

Websites like Coeliac UK are excellent resources for information and support. They provide comprehensive details about coeliac disease, offer guidance on following a gluten-free diet, and can help you locate support groups in your local area. Connecting with these resources can significantly ease the transition to a gluten-free lifestyle and empower you to manage your condition successfully.

Page last reviewed: 31 March 2023
Next review due: 31 March 2026

Comments

No comments yet. Why don’t you start the discussion?

Leave a Reply

Your email address will not be published. Required fields are marked *