Coeliac Awareness Month: How genetic testing can support early diagnosis

May marks Coeliac Awareness Month, an annual campaign that raises the profile of coeliac disease, a lifelong autoimmune condition triggered by a reaction to gluten.

This year, Coeliac UK’s awareness campaign is built around one striking number: 64.

Around 1 in 100 people in the UK have coeliac disease, but only 36% have been diagnosed, meaning 64% are living with the condition without knowing it. That’s hundreds of thousands of people who may be experiencing symptoms without understanding why.

With the right testing, many of those people could get answers sooner and avoid years of unnecessary suffering.

Here, we take a closer look at coeliac disease, how it affects the body, and the testing options available to help you understand whether you’re at risk.

What is coeliac disease?

Coeliac disease is not a food allergy or intolerance.

When a person with coeliac disease consumes gluten, a protein found in wheat, rye, and barley, their immune system mistakenly attacks healthy tissue in the gut.

This causes inflammation and damage to the lining of the small intestine, which in turn interferes with the body’s ability to absorb nutrients properly.

Because the symptoms of coeliac disease overlap with other gastrointestinal conditions like irritable bowel syndrome (IBS), many people are misdiagnosed or go without answers for years.

Learn more: Everything you need to know about coeliac disease

What are the symptoms of coeliac disease?

Symptoms of coeliac disease can vary significantly from person to person, and some people experience no obvious gut symptoms at all.

Common signs of coeliac disease include:

• Diarrhoea or constipation
• Bloating and abdominal pain
• Fatigue and persistent tiredness
• Unexplained weight loss
• Indigestion and nausea
• Mouth ulcers
• Skin rash (dermatitis herpetiformis)
• Nerve damage (peripheral neuropathy)
• Poor coordination (ataxia)

If left untreated, coeliac disease can lead to serious long-term health complications including osteoporosis, anaemia, infertility, and an increased risk of certain cancers.

Learn more: Is coeliac disease serious?

Is coeliac disease genetic?

Yes, genetics play a significant role in coeliac disease.

People with the condition carry mutations of the HLA-DQ gene (specifically HLA-DQ2 and/or HLA-DQ8), and around 1 in 10 people diagnosed with coeliac disease have a first-degree relative with the condition.

HLA genes produce proteins that help the immune system identify foreign material. Where these genes are defective, the body can mistakenly identify gluten as a threat, triggering an autoimmune response that damages the gut lining.

Importantly, while the HLA-DQ2 and HLA-DQ8 gene variants are always present in people with coeliac disease, they are also carried by around 4 in 10 of the general population.

Carrying one or both genes does not mean a person has coeliac disease; it means they may be at a higher risk of developing it.

Environmental factors are also thought to play a role in whether the condition is triggered.

How can you test for coeliac disease?

There is currently no cure for coeliac disease, but it can be effectively managed with a strict gluten-free diet. That makes early, accurate diagnosis essential.

Standard diagnostic testing typically involves blood tests to detect specific antibodies, followed by a gut biopsy to assess damage to the intestinal lining. However, before undergoing any invasive procedures, a genetic test for coeliac disease can be a valuable first step in understanding whether an individual is at risk.

Our Genetic Coeliac Disease Test uses HLA typing to analyse six DNA markers for the HLA-DQ2 and HLA-DQ8 gene variants. A simple, non-invasive cheek (buccal) swab is used to collect the DNA sample, which means the test is suitable for people of any age, including babies and children.

Your test results will show either a negative result – meaning that you are unlikely to develop coeliac disease in the future – or that you are at very low, low, moderate, or high risk of developing coeliac disease, depending on which genes you have.

These results can be shared with a GP or specialist to help inform next steps and, where needed, assist you in receiving a faster diagnosis.

Learn more: What is HLA typing for coeliac disease?

Where can I buy a coeliac disease test?

It’s easy to order an AlphaBiolabs Genetic Coeliac Disease Test online.

The test kit includes everything you need to collect your DNA sample at home using cheek swabs and return them to our accredited UK laboratory for analysis.

Your secure, password-protected results will be emailed to you in just 4-5 business days after we receive your sample at our laboratory.

Here’s what Maxine, an AlphaBiolabs customer, said about our Genetic Coeliac Disease Test:

“After suffering for nearly three years with abdominal pain, severe bloating, and bleeding, I was no closer to understanding what was causing my symptoms. I felt like a hypochondriac and a burden, as I had to keep going back to my GP with the same problems.

“I did some research online and this, as well as comments from family, friends and colleagues, led me to believe I could have coeliac disease. I ordered the test, which was amazingly easy to do – just a simple and painless cheek swab.

“My results came back showing that I had a high risk of coeliac disease. I took the results to my GP the next day and was sent for further testing, which confirmed that I do indeed have coeliac disease.

“I cannot recommend this test highly enough for anyone suffering with symptoms and feeling they are getting nowhere with a diagnosis. Take the test – less than a minute could change your life. It did for me.”

Order your Genetic Coeliac Disease Test now, or contact our Customer Services team on 0333 600 1300 or info@alphabiolabs.com for more information.