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Celiac disease

Digestive diseases
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Celiac disease
portrait of José Antonio Zumalacárregui Ph.D.
Written by

José Antonio Zumalacárregui Ph.D.
Medically reviewed by our Medical staff

Last update: 22-10-2021

How else can it be called?

  • Gluten-sensitive enteropathy

  • Gluten intolerance

  • Coeliac disease

  • Celiac sprue

  • Non-Tropical Sprue

  • CIE-10: K90.0

What is celiac disease?

Celiac disease is an inflammatory digestive disease that damages the small intestine and it is caused by gluten intolerance in people genetically susceptible.

In some people, gluten may damage the small intestine and interfere with the absorption of nutrients. Gluten is present in cereals such as wheat, rye, or barley.

When someone with celiac disease eat foods containing gluten, the immune system response is activated. The activation of the immune system causes the inflammation of the small intestine and the inability to absorb nutrients from foods. For this reason, celiac disease is also considered an autoimmune disease.

What is gluten?

Gluten is a group of proteins present in many cereal grains. Gluten is composed of two types of proteins called prolamins (soluble in alcohol) and glutelins (insoluble in alcohol).

Prolamins and glutelins are present in cereal grains. Wheat, for example, owns two types of proteins called gliadin (a type of prolamin) and glutenin (a type of glutelin).

The different type of prolamins present in cereal grains are:

CerealType of ProlaminContent %
WheatGliadin69%
RyeSecalin30-50%
OatsAvenin16%
BarleyHordein46-52%
MilletPanicin40%
CornZein55%
RiceOrzenin5%
SorghumKafirin52%

What are the main symptoms of celiac disease?

Many kids are diagnosed with celiac disease when they around two years old, after wheat is introduced into the diet. In adults, the average age of diagnosis is between 30 and 40 years old.

The intestinal villi allow the body the absorption of food and nutrients. Villi are small finger-like projections inside the small intestines. In celiac disease, these villi become flat and as a consequence the nutrient absorption decrease. The atrophy of the villi defines how the disease affects each person.

In many cases, the disease is asymptomatic. If there is any symptom the most common ones are:

Abdominal pain is usually present followed by flatulence and a distended abdomen.

Anemia is caused by the malabsorption of iron, folic acid, and/or vitamin B12.

In some case, arthritis is also present. Common symptoms of arthritis are joint pain, joint stiffness, and weakness.

Poor absorption may result in bone diseases (osteoporosis, bone fractures, osteomalacia) and tetany (involuntary muscle spasms).

There may be also symptoms related to the nervous system such as burning tingling or numbness in hands and feet, inability to stand upright, muscle weakness, irritability and memory impairment.

In addition, around 10% of people with celiac disease suffer from dermatitis herpetiformis and around 85% of people with dermatitis herpetiformis has celiac disease at the same time.

What causes celiac disease?

Celiac disease is a genetic and hereditary disease and therefore there is a family predisposition. The most common genes implicated are the HLA-DQ2 gene (related to 90% of the cases) and the HLA-DQ8 gene (related to 5% of the cases). Both genes are located on chromosome 6.

Despite the genetic predisposition, the conditions that may trigger the disease (the autoimmune response) are unclear.

The main mechanisms involved in the gluten intolerance are:

  1. Lack of digestive enzymes (intestinal glutaminase).
  2. Production of anti-prolamin antibodies, or their fragments.
  3. Increase in the intestinal permeability to macromolecules and antigenic proteins.
  4. Increased production of chemical mediators (histamine, serotonin, kinins, prostaglandins, and interleukins).

Which are the different types of celiac disease?

There are three different types of celiac disease with the following clinical features:

  1. Infiltration of the epithelium of the villi with lymphocytes, normal villi, and crypts. This type of celiac disease is found in 40% of the patients suffering from dermatitis herpetiformis and in a small amount of patients with intestinal involvement. It is also seen in family members of affected people who are asymptomatic.
  2. Lengthening and flattening of the crypts in addition to inflammatory cells in the lamina propria. This model is classically found in individuals with intestinal symptoms, in family members of asymptomatic patients, and in people with dermatitis herpetiformis. In most of these cases, a gluten-free diet improves the structure of the villi and the intestinal crypts.
  3. Total flattening of the mucosa with the absence of villi and with very small intestinal crypts. This type is found in more severely affected patients. It is usually refractory to gluten-free diet, and the damage are not reversible. They are patients who require parenteral nutrition (using injections).

How can it be diagnosed?

Celiac disease is diagnosed looking for antibodies in the blood, intestinal biopsy and by the explained symptoms.

The biopsy is the removal of a tiny piece of tissue from intestine to study it under the microscope. The biopsy is usually taken from the duodenum (first section of the small intestine), although biopsy from the jejunum (middle section of the small intestine) is usually more specific.

The biopsy is a useful screen to diagnose celiac disease but sometimes it is necessary to repeat it to avoid false positives by intestinal infection or lactose intolerance.

Some patients may have a normal biopsy when the disease is inactive or the disease is in remission, although they remain very sensitive to some types of prolamins.

Although a biopsy is necessary to confirm the diagnosis, the most important test for gluten intolerance is the remission of symptoms when cereals are excluded from the diet for 3-6 weeks.

Can it be diagnosed by specific antibodies?

Many serology tests may help in the diagnosis by detecting antibodies in the blood. These tests have a high sensitivity (correctly detection of patients with the disease) and they are very specific (they do not appear in healthy people).

The basic screening test is the detection of IgA anti-tissue transglutaminase (anti-tTG) antibodies. If these antibodies are detected in the blood, the probability of suffering from celiac disease is very high (specificity is more than 95%). In people with IgA deficiency, an anti-tTG IgG assay is recommended.

Besides, other additional serology tests may be performed:

  • IgG and IgA anti-gliadin antibodies (AGA)
  • IgG and IgA antireticulin antibodies (ARA)
  • IgA antiendomysial antibodies (EMA)
  • Antijejunum antibodies (JAB)

All these antibodies usually show a negative result with a gluten-free diet. They are also helpful to follow-up with intestinal symptoms, but not extraintestinal symptoms.

What is the recommended treatment?

The only treatment for celiac disease is to follow a gluten-free diet.

After two weeks of a gluten-free diet, in most cases there is an improvement.

Gluten is present in any product containing wheat, barley, oats, or rye. Therefore, the following foods should not be eaten:

  • Bread
  • Breakfast cereals
  • Pasta
  • Biscuits
  • Pizza

However, in many supermarkets, you can find gluten-free alternatives of these foods.

If symptoms do not improve, it may be because the diet is not adequate or because there are lymphomatous complications.

In asymptomatic patients, gluten-free diet is also recommended because the disease worse when the diet is broken. Besides, the incidence of lymphoma and adenocarcinoma increases when intestinal inflammation is present.

What other disorders related to celiac disease may appear?

Celiac disease affects every system in the body, so many conditions related to gluten intolerance are prone to be developed:

  • Attention-Deficit/Hyperactivity Disorder (ADHD)
  • Epilepsy
  • Gastrointestinal lymphoma
  • Small bowel adenocarcinoma
  • Dermatitis herpetiformis
  • Schizophrenia

These diseases are not always related to bowel disorders.

Medically reviewed by our Medical staff on 22-10-2021

Bibliography

  • Textbook of Clinical Gastroenterology and Hepatology (2nd Ed) 2012, Daniel A. Leffler, Andrés Cárdenas and Ciarán P. Kelly, ISBN: 978-1-4051-9182-1, Pag. 288.
  • Encyclopedia of human nutrition. 2nd edition. Nehra, E Marietta and J Murray. 2005. Pag 407 ISBN 0-12-150110-8.
  • Celiac Disease: An Introduction - Academy of Nutrition and Dietetics. Available on: https://www.eatright.org
  • Celiac Disease. Reviewed by: J. Fernando del Rosario. Available on: https://kidshealth.org

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