Coeliac Disease


Coeliac Disease (pronounced Seel-ee-ak) is a medical condition and is a permanent intestinal intolerance to dietary gluten.

In untreated Coeliac Disease the lining of the small bowel (intestine) is damaged. This causes a flattening of the tiny, finger-like projections called villi, which line the inside of the bowel. The function of the cells on normal villi is to break down and absorb nutrients in food. In untreated Coeliac Disease, the lining of the intestine becomes inflamed and gives a characteristic flat appearance. The surface area, which enables the absorption of nutrients and minerals from food, is seriously depleted. This leads to deficiencies in vitamins, minerals and sometimes proteins, carbohydrates and fats.

What is the cause?

Coeliac Disease is caused by an interaction between gluten (the protein portion of wheat, rye, barley, triticale and possibly oats) and the small bowel lining in people susceptible to the disease. This causes damage to the lining which results in a reduction in the surface area of the villi or finger-like projections of the bowel lining. Both genetic and environmental factors play important roles in Coeliac Disease. It is a genetic condition, but may be triggered by other factors, but these are not yet identified.

Is Coeliac Disease Familial?

Around 10% of all first degree relatives (parents, brothers, sisters or children) of a person with Coeliac Disease will also have the disease. With identical twins, if one is affected there is a 70% (approx) chance that the other twin will also be affected (but not necessarily at the same time). So Coeliac Disease certainly occurs in individuals with a genetic predisposition.

Can Coeliac Disease be cured?

People with Coeliac Disease remain sensitive to gluten throughout their life, so, in this sense, they are never cured-even if symptoms disappear, damage to the small bowel can still be taking place, if gluten is being ingested. However, after the removal of gluten from the diet, a reversal of the abnormalities of the lining of the bowel occurs and the problem of deficiencies resolve. Relapse occurs if gluten is reintroduced. Older patients often take longer to recover. People with Coeliac Disease should remain otherwise healthy as long as they adhere to the diet.

How is the condition recognised?

The underlying abnormality is presumed to be present at birth, but recognizable problems cannot develop until gluten containing foods are included in the infant’s diet. While damage to the bowel lining occurs whenever gluten is eaten, the effect on each person with Coeliac Disease varies markedly making diagnosis very difficult. Some infants become rapidly and severely ill; other children develop problems slowly over several years. Many people with Coeliac Disease have few or no apparent problems during childhood, developing symptoms only during adult life. Family studies suggest many people with Coeliac Disease in the community remain completely undetected.

Symptoms

The symptoms of Coeliac Disease can vary markedly, ranging from numerous to none at all.

Listed below are some of the symptoms which may occur singularly or in combination:

• Fatigue, weakness and lethargy
• Anaemia-the anaemia will either not respond to treatment or will recur after treatment until the correct diagnosis is made and a gluten free diet is begun
• Flatulence and abdominal distention
• Diarrhoea-this may begin at any age and is often present for years prior to diagnosis
• Constipation-some are likely to experience constipation rather than diarrhoea
• Cramping and bloating
• Nausea and vomiting
• Weight loss-although many do not lose weight and some can even put on weight

LESS COMMON IN ADULTS

• Easy bruising of the skin
• Ulcerations and/or swelling of mouth and tongue
• Miscarriages and infertility
• Low calcium levels with muscle spasms
• B12, A,D,E and K vitamin deficiency
• Skin rashes such as dermatitis herpetiformis
• Altered mental alertness
• Bone and joint pains

COMMON IN CHILDREN
Symptoms do no occur until after gluten has been introduced into the infant’s diet. Onset of symptoms can occur at any age after the introduction of gluten.

• Abdominal distention, pain and flatulence
• Nausea and vomiting
• Diarrhoea and constipation
• Large, bulky, foul stools
• Poor weight gain
• Weight loss in older children
• Delayed growth or delayed puberty
• Tiredness
• Anaemia
• Irritability

Problems with diagnosis

Since other conditions can closely mimic Coeliac Disease the correct diagnosis can only be made by showing that the bowel lining is definitely damaged. If Coeliac Disease is suspected, a Gluten Free diet should not be started, as it will interfere with establishing the correct diagnosis and may delay the diagnosis of another condition with similar symptoms. Trialing of a Gluten Free diet does not provide a diagnosis of Coeliac Disease and subsequent investigations whilst on a Gluten Free diet will render a false negative. This includes the serological testing (blood tests). The biopsy test should always be performed before starting a Gluten Free diet. It is important to discuss the possibility of Coeliac Disease with a doctor, if anyone has a close relative with the condition or if they have been treated for anaemia on previous occasions.

Diagnosis

Diagnosis relies upon proving that the small bowel lining shows the typical damage (villous atrophy). This is done by endoscopy, preferably with multiple biopsies from the upper small bowel. A specific panel of blood tests that measure antibodies to gluten is available as a screening aid in the diagnosis of Coeliac Disease.

What are the long term risks of undiagnosed Coeliac Disease?

Chronic poor health, osteoporosis due to calcium malabsorption, infertility, miscarriages, depression, dental enamel defects and an increased risk of gastrointestinal and oesophageal carcinoma.

In children, undiagnosed Coeliac Disease can cause lack of proper development, short stature and behaviour problems.

How is the condition treated?

Coeliac Disease is treated by a lifelong Gluten Free diet. By specifically removing the cause of the disease, this treatment allows all abnormalities, including that of the bowel lining, to recover completely.

As long as the diet is strictly adhered to, problems arising from Coeliac Disease should not return.

At the start of treatment it may be necessary to replace current deficiencies of nutrients (e.g. iron, folic acid and the fat soluble vitamins A,D,E and K). Some people may also have a transient intolerance to lactose (the sugar found in milk) at the time of diagnosis and may be advised by their doctor to temporarily restrict the amount of lactose in their Gluten Free diet. In a few people, a low lactose diet is required for a longer period of time.

The possibility of Coeliac Disease in other members of the family should be considered. Suspicious symptoms or signs in any close family member warrant a blood screening test.

For both children and adults the diagnosis of Coeliac Disease should be confirmed by repeating the small bowel biopsy 6 to 12 months after starting the Gluten Free diet. This is particularly important in young children because other causes of bowel lining damage similar to Coeliac Disease are possible.

Notes about the gluten free diet