Coeliac disease: a clinical chameleon

Coeliac disease manifests with a host of symptoms ranging from abdominal bloating to blistering skin. Coexisting conditions include lactose intolerance, osteoporosis, as well other disorders. The autoimmune disorder can initially occur in infancy as well in older age. With these wide-ranging characteristics, coeliac disease is a real chameleon that can be extremely difficult to diagnose.

In individuals with coeliac disease, consuming gluten causes chronic inflammation of the small intestine. This can impact different organs and systems in the body – and trigger a raft of symptoms with varying degrees of severity. Individuals with coeliac disease can even be fully asymptomatic. The diverse disease presentations can cause many cases to go undiscovered for years. Since all types of coeliac disease are associated with permanent damage to the lining of the small intestine, however, it is very important to see a doctor if you suspect you may have the condition.

Coeliac disease damages the villi of the intestinal mucosa, often – but not always – leading to gastrointestinal symptoms. However, it can also cause more general symptoms, often outside of the gut. In the long term, the chronic inflammation in the small intestine prevents important nutrients from being absorbed by the body, leading to associated deficiencies.

Such as

• diarrhoea or constipation                  
• vomiting with or without nausea       
• a feeling of fullness after meals       
• bloating or distension
• abdominal pain or distress.

Such as

• unexplained weight loss
• exhaustion, fatigue
• muscle weakness or pain
• joint pain, motor impairment
• recurring mouth sores
• delayed growth in children.

If any of these symptoms persist for more than four weeks, experts advise you to be tested for coeliac disease.

You should also be tested for coeliac disease if you have any unexplained abnormal laboratory findings or illnesses such as unexplained vitamin or mineral deficiencies, particularly vitamin B12, folic acid, iron or calcium deficiencies. Conditions such as anaemia or osteoporosis can also be associated with coeliac disease. Elevated liver enzymes (transaminases) may also be a sign of coeliac disease. But the list of possible coexisting conditions is even longer, and includes hair loss, lactose intolerance, migraine, depression, as well as joint symptoms, neurological disorders and infertility. A host of other signs and symptoms have also observed in association with coeliac disease. For example, dermatitis herpetiformis is a manifestation of coeliac disease characterised by an itchy rash with redness and blisters.

Some people have a genetically related increased risk of coeliac disease, for example, if a first-degree relative has the disorder. Individuals with genetic syndromes such as Down syndrome, Turner syndrome or Williams syndrome should also be tested for coeliac disease, however. People with certain autoimmune disorders are also at greater risk of coeliac disease. These disorders include:

• Type 1 diabetes
• Autoimmune liver diseases
• Hashimoto thyroiditis and Grave's disease
• Rheumatoid arthritis.

"Due to the disease’s variations, at our medical practice we need to consider the possibility of coeliac disease for a number of symptoms and findings. A suitable blood test can help us identify coeliac disease, which is a clinical chameleon." (Dr Petra Zantl, General Practitioner)

No matter what the symptoms, coexisting conditions or risk factors, you should see your doctor if you suspect you may have coeliac disease. The first step involves a blood test. If certain antibodies are found, the results are confirmed by taking a biopsy of the small intestine. If the diagnosis is confirmed, a strict gluten-free diet can enable the small intestine to fully regenerate. Please note: Do not refrain from eating gluten before testing, because doing so can distort the results.