Coeliac disease: what it is, symptoms, tests, treatment

Coeliac disease is an immune reaction to the consumption of gluten, a protein found in some commonly used cereals, such as wheat, barley and rye

In people with coeliac disease, the consumption of gluten triggers an immune response in the small intestine

Over time, this reaction damages the lining of the small intestine itself, preventing it from absorbing certain nutrients (causing malabsorption).

Intestinal damage can cause (but not always) symptoms such as diarrhoea, fatigue, weight loss, bloating and anaemia and can lead to serious complications.

In children, malabsorption can affect growth and development, as well as cause some of the disorders seen in adults.

There is no cure for celiac disease, but in most people, following a strict gluten-free diet can help manage symptoms and promote intestinal healing.

Coeliac disease

Coeliac disease is defined as a permanent food intolerance.

It is caused by gluten, a protein complex contained in certain cereals, such as wheat, barley, rye and spelt.

At the origin of this disease is an abnormal functioning of the immune system, the body’s natural defence mechanism.

In practice, in predisposed people, gluten is perceived as a ‘foreign’ substance and is therefore able to activate an inflammatory response.

The result is that when this protein is ingested and enters the intestine, an exaggerated immune response is triggered in coeliacs, leading to the production of antibodies.

Since there are no ‘enemies’ to fight, however, the antibodies end up attacking the body itself.

In particular, the antibodies attack the intestine, causing damage to the intestinal mucosa, the mucosa that covers the entire intestine and allows it to function properly.

In the long run, the disease also destroys the intestinal villi, small structures that cover the intestine (they resemble many small trees) and allow the absorption of nutrients.

This is why the person with coeliac disease is unable to absorb the nutrients contained in food.

Causes of coeliac disease

Underlying the exaggerated response of the immune system there may be many different causes, not all of which are known.

Certainly, it is certain that genetics plays a key role: genetic predisposition combined with the consumption of foods containing gluten and other factors can lead to the development of the disease.

Certain childhood feeding practices, gastrointestinal infections and intestinal bacteria may also contribute.

Sometimes coeliac disease occurs after surgery, pregnancy, childbirth, viral infection or severe emotional stress.

Coeliac disease tends to be more common in people who have: 

  • another family member with coeliac disease or dermatitis herpetiformis;
  • type 1 diabetes;
  • Down syndrome or Turner syndrome;
  • autoimmune thyroid disease;
  • microscopic colitis (lymphocytic or collagenous colitis);
  • Addison’s disease.

Celiac disease symptoms

The signs and symptoms of coeliac disease can vary greatly between children and adults. In adulthood, a distinction is made between digestive signs and symptoms and related extra-intestinal disorders.

The most common manifestations affecting the gastrointestinal system are:

  • diarrhoea or conversely constipation
  • bloating and intestinal gas
  • abdominal pain
  • nausea and vomiting
  • heaviness of the stomach
  • gurgling and tummy rumbling
  • lack of appetite.

As mentioned, however, digestive manifestations are not the only ones possible.

More than half of adults with coeliac disease present with signs and symptoms unrelated to the digestive system, including:

  • anaemia, usually from iron deficiency,
  • loss of bone density (osteoporosis) or bone softening (osteomalacia),
  • itchy and blistering skin rash (dermatitis herpetiformis),
  • mouth ulcers,
  • headaches and fatigue,
  • lesions of the nervous system, including numbness and tingling in the feet and hands,
  • possible balance problems,
  • cognitive impairment,
  • joint pain,
  • reduced functioning of the spleen (hyposplenism).

Symptoms in children

Children with coeliac disease are more likely than adults to have digestive problems, including:

  • nausea and vomiting
  • chronic diarrhoea
  • bloated belly
  • constipation
  • intestinal gas and meteorism
  • pale, foul-smelling stools

The inability to absorb nutrients can also lead to: lack of growth; damage to tooth enamel; weight loss; anaemia; irritability; short stature; delayed puberty; neurological symptoms, including attention deficit/hyperactivity disorder (ADHD), learning disabilities, headaches, lack of muscle coordination and convulsions.

Coeliac disease test

In general, this intolerance begins to show itself a few months after the introduction of gluten into the diet, thus, almost always in childhood.

However, many people with coeliac disease are unaware that they are affected and only discover they are ill in adulthood.

How is this possible? Perhaps the symptoms have always been blurred, the situation has been underestimated, or targeted investigations have never been carried out

In order to diagnose the disease, a blood test is useful: the serological test for the detection and dosage of certain antibodies, such as anti-transglutaminasides class IgA (IgA immunoglobulins should also always be dosed to be sure that the test is reliable) and anti-gliadin antibodies, which are only produced in the case of coeliac disease.

In fact, elevated levels of certain antibody proteins indicate an immune reaction to gluten.

The doctor may also request genetic tests for human leukocyte antigens (HLA-DQ2 and HLA-DQ8), which investigate genetic predisposition to the disease.

When a biopsy is needed

If the results of these tests suggest the presence of coeliac disease, it is likely that the doctor will prescribe a gastroduodenoscopy, with some mucosal samples being taken for biopsy.

This test is performed by inserting a small tube, the endoscope, into the person’s mouth. It is equipped with a small camera that allows the oesophagus, stomach and duodenum to be viewed.

In fact, the endoscope collects images of the area and sends them to an external monitor, on which the doctor can see the details.

In addition, it allows parts of tissue to be taken, completely painlessly, which are then analysed in the laboratory.

This investigation makes it possible to see whether the intestinal mucosa is inflamed, to classify coeliac disease and to establish its degree of seriousness.

In children, a biopsy is usually only performed in the most doubtful cases.

There are also other tests for coeliac disease, such as the breath test and stool analysis, but they are not always used: the choice is always up to the doctor in relation to individual cases.

It is important to test for coeliac disease before starting a gluten-free diet: eliminating gluten from the diet beforehand could make the blood test results appear normal and thus complicate the diagnosis of the disease.

Treatment of coeliac disease

There is no specific treatment for coeliac disease. The only way to keep it under control is to follow a strict gluten-free diet for life.

Products to be avoided are those made from wheat, spelt, kamut, barley, rye, spelt and triticale.

These are not only common pasta, bread, rice and biscuits, but also seemingly ‘harmless’ products that contain traces of gluten, such as ready-made sauces, sausages, some nuts, cheese spreads, candies, and ice cream.

A nutritionist who works with people with coeliac disease can help plan a healthy gluten-free diet

Gluten can be hidden in foods, drugs and non-food products, including: modified food starch, food preservatives and stabilisers, prescription and over-the-counter drugs, vitamin and mineral supplements, herbal and nutritional supplements, toothpaste and mouthwash, and glue for envelopes.

Removing gluten from the diet will gradually reduce inflammation in the small intestine, making the person feel better and healing intestinal lesions.

Children tend to heal faster than adults.

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