COELIAC DISEASE – A VASTLY UNDERDIAGNOSED CONDITION

Coeliac disease – Could you be 1 in 100?

Coeliac disease is a genetic, inflammatory and auto-immune condition caused by an adverse reaction of the immune system to gluten – a protein composite found in wheat, barley, rye and their derivatives. When somebody with coeliac disease eats gluten, even in tiny amounts, the immune system reacts by damaging the lining of the small intestine. There is inflammation and erosion of tiny finger-like projections called villi which line the small intestine. This leads to decreased absorption of nutrients from food. Coeliac disease can be triggered at any age, and it affects people of any race, any gender and in any part of the world. Currently, the only treatment is a gluten-free diet for life. Unfortunately, untreated coeliac disease can lead to a wide range of health complications, including osteoporosis, anaemia and vitamin deficiencies, fertility problems, neurological problems, and in rare cases, some forms of cancer.

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There are currently around 1,500 people diagnosed with coeliac disease in Malta. Since it is known to affect approximately 1% of the population, this means that 3 out of every 4 people with coeliac disease are still undiagnosed. This is not surprising, due to the varied presentation of this condition. Some people are misdiagnosed with IBS. Some start a gluten-free diet without getting tested for coeliac disease first. Others are unaware that their symptoms could be linked to coeliac disease.

Thanks to increasing awareness, the typical symptoms of coeliac disease are quite well known. These can include abdominal pain, diarrhoea, nausea and vomiting, bloating, excess gas, and weight loss. However, it might be surprising to know that most people with coeliac disease experience atypical symptoms that are often extra intestinal. Weight loss is no longer one of the ‘expected’ symptoms, with many coeliacs being diagnosed with a normal weight or even being overweight. Furthermore, coeliac disease can also be present with no obvious symptoms at all. In these cases, damage is still done to the small intestine every time gluten is ingested, without the person being aware of it.

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Atypical symptoms of coeliac disease include:

Failure to thrive and short stature
Tiredness and/or headaches
Delayed puberty
Dental enamel problems and mouth ulcers
Hair loss
Osteoporosis and osteopaenia (decreased bone mass)
Iron deficiency anaemia and vitamin deficiencies
Arthritis and joint and/or bone pain
Neurological problems such as headaches, tingling of fingers and toes (peripheral neuropathy), gluten ataxia (poor coordination)
Psychological problems and behavioural changes
Reduced fertility and/or repeated miscarriages
Dermatitis herpetiformis- a blistery skin rash and other skin disorders

In cases where no symptoms are experienced, diagnosis is made through screening. Screening is also recommended if you have symptoms related to coeliac disease or have an increased risk of developing the condition.

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Some people have certain conditions which have an increased risk of developing coeliac disease. Coeliac disease is more frequent with other autoimmune disorders including type 1 diabetes mellitus, multiple sclerosis, autoimmune thyroiditis, autoimmune hepatitis, Addison disease, Arthritis, Sjorgen’s syndrome, idiopathic dilated cardiomyopathy, and IgA nephropathy. It is also more common in genetic syndromes such as Downs, Turners and Williams syndromes. Relatives of a person with coeliac disease also have a higher chance of having this condition.

If you suspect that you could have coeliac disease, it is important to keep eating gluten until you are tested. Testing involves a coeliac specific antibody blood test, followed by confirmation through biopsy.