Celiac disease: gluten intolerance, symptoms, diagnosis, treatment

Celiac enteropathy (gluten-sensitive celiac disease) is an immune-dependent disease with damage to the small intestine and systemic autoimmune manifestations caused by intolerance to the gluten protein of cereals - gluten.

This disease is also known as abdominal sprue, gluten-sensitive enteropathy and non-tropical sprue, celiac disease, and idiopathic steorrhea.

Incidence of celiac disease

There are no exact data on the incidence of celiac disease. Researchers compare gluten intolerance to an iceberg and believe that the number of identified cases of the disease is like the tip of the iceberg and that the true number of people suffering from this disease is much higher.

Screening studies of blood donors have found that the prevalence of the disease reaches 1:256 in all European countries. Low-symptomatic (latent forms) in adults are 4-5 times more common than those with severe symptoms. Almost 80% of patients are women.

Studies have shown that among the closest relatives of patients, approximately 10% have latent celiac disease.

Why is gluten dangerous?

Gluten is the gluten protein found in grains.

Wheat flour contains from 7 to 15% protein, 90% of which is gluten.

Gluten consists of four components:

• albumen,
• globulin,
• prolamine,
• glutenin.

Only prolamine has a toxic property that causes celiac disease.

The amount of prolamine in different cereals varies.

Prolamine content in cereals:

• millet 55%,
• wheat 33-37%,
• rye 33-37%,
• barley < 10%,
• oats < 10%,
• corn 6%,
• buckwheat 1%.

Prolamin in wheat is called gliadin, in rye - secalin, in barley - hordein, in oats - avenin, in corn - zein.

Gluten (prolamine) in corn, buckwheat and rice does not cause celiac disease.

There is no clear data yet regarding oats. When conducting special studies of gluten-free diets with and without oats, we were convinced that a small amount of it can be included in such diets - no more than 70 grams per day.

Reasons for the development of the disease

Several mechanisms of gluten intolerance are currently being considered.

1. Congenital absence or reduced production of enzymes that break down gluten in the small intestine is one of the causes of celiac disease. In approximately 0.03% of patients, the disease is inherited. The accumulation of toxic products in the mucous membrane of the small intestine due to incomplete breakdown of gluten leads to metabolic disorders. Products of incomplete breakdown of gluten come into contact with the intestinal mucosa and damage it. This leads to the development of the disease.
2. In addition to hereditary, there is a secondary, acquired gluten intolerance. Some researchers consider the cause of its development to be a consequence of an infectious intestinal lesion (probably adenoviral) or other diseases.
3. A significant role in the development of the disease belongs to malfunctions of the immune mechanism. In this case, the process is similar to food allergies . In individuals with celiac disease, in response to gluten, the jejunal mucosa produces more IgA and IgM antibodies, as well as T lymphocytes.
4. One of the reasons is the body’s inadequate toxic reaction to the absorption of incompletely broken down gluten products in the intestine. At the same time, lymphokines are produced, which contribute to damage to the mucous membrane of the small intestine.

The mechanism of the damaging effect of gluten (gliadin)

The effect of gliadin on the intestinal mucosa leads to partial or total villous atrophy. The epithelium of the mucous membrane of the small intestine is quickly renewed, in just 3-5 days.

Modern research has shown that in celiac disease there is an increased rate of cell rejection, which leads to an increased rate of new tissue formation. But the accelerated new formation of cells leads to the fact that immature cells (enterocytes) appear on the surface of the villi, unable to perform their functions.

By following a strict gluten-free diet, the structure of the intestinal mucosa is gradually restored. If such a diet is not strictly followed, there is no positive dynamics of recovery.

What areas of the intestine are affected?

Most often, celiac disease affects the proximal (middle) part of the small intestine, with lesions decreasing towards the distal part (as it approaches the large intestine). The extent of intestinal damage depends on the severity of the disease.

The involvement of the proximal part can be moderate in asymptomatic cases of the disease with minor or even histologically undetectable changes in the mucosa.

In some cases, the mucous membrane of the stomach and rectum may be affected.

Damage to the duodenum and jejunum occasionally appears as plaques. In this case, it is necessary to urgently perform a biopsy to examine them.

Kinds

Most experts adhere to the following classification of the disease:

• classical is accompanied by symptoms characteristic of diseases of the gastrointestinal tract,
• atypical with one or more symptoms not characteristic of gastrointestinal diseases,
• asymptomatic with the absence of symptoms, despite the presence of characteristic intestinal lesions.

Symptoms

Gluten intolerance presents with many different symptoms. The typical course of the disease is characterized by alternating constipation and diarrhea, periods of remission and exacerbations.

Since celiac disease is associated with metabolic disorders, one way or another it affects the functioning of all organs and systems of the body. Often patients come with complaints that at first glance are not related to the gastrointestinal tract. They are worried about high fatigue, weakness, shortness of breath, pain in the bones and spine.

Lack of vitamins B1, B2 and B3 due to disruption of the small intestine where they are produced causes neurological symptoms such as:

• muscle weakness,
• impaired coordination of movements,
• Sensitivity disturbance (tingling, numbness).

A lack of vitamin A causes impaired twilight vision and “night blindness.”

Celiac disease can be combined with skin diseases such as

• dermatoses,
• hives,
• cutaneous vasculitis,
• psoriasis,
• vitiligo,
• focal alopecia.

Main symptoms of gluten intolerance

The main signs of the disease are:

• chronic diarrhea,
• weight loss,
• anemia,
• bloating,
• feeling of fullness,
• vague pain and discomfort in the abdomen,
• loss of appetite,
• fatigue and malaise,
• foul-smelling feces

In some cases, the disease is practically asymptomatic. It may be limited to vague abdominal pain, bloating, occasional diarrhea, and fatigue. In this case, the diagnosis is made during examination associated with other diseases and is confirmed by the presence of changes in the mucous membrane of the small intestine.

Provoking factors for exacerbation of the disease and the manifestation of the first signs are most often pregnancy and childbirth, neuropsychic trauma, and acute intestinal infections.

Frequent signs are bloating, increasing in the evening, lack of appetite, nausea, and vomiting.

Severe abdominal pain is not typical; dull pain in all parts of the abdomen is more common. Sometimes there is soreness around the navel, rumbling and splashing throughout the colon.

Patients with limited intestinal involvement, including only the duodenum and mid-jejunum, often have no intestinal symptoms. In this case, the disease manifests itself with such symptoms as

• anemia caused by deficiency of iron and/or folic acid, vitamin B12,
• demineralization of bones, manifested by fractures.

Signs of severe celiac disease

In severe cases of the disease, the following symptoms are added to the main ones:

• the stool has a foamy, semi-formed character,
• stool is light brown, greasy and foamy,
• stool has a rancid or foul odor
• in some patients, diarrhea alternates with constipation,
• pinpoint hemorrhages appear on the skin,
• bleeding (uterine, nasal, gastrointestinal),
• muscle cramps,
• in the corners of the mouth, less often behind the ears and at the wings of the nose, weeping cracks appear,
• nails are dull, cross-striated, flaking,
• thickening of the distal phalanges of the fingers may occur,
• the tongue becomes crimson-red, with atrophied, smoothed papillae.

In these cases, adrenal insufficiency often develops, which in addition to fatigue causes symptoms such as:

• dizziness,
• hyperpigmentation of the skin and mucous membranes.

For very severe celiac disease

• stool frequency reaches 10 times a day,
• dehydration occurs
• acidosis (shift in the body’s acid-base balance towards increased acidity and decreased pH),
• malabsorption syndrome develops,
• secondary damage to many organs and systems.

Celiac disease in children

The disease most often develops in children 4-6 months old. This is due to the introduction of complementary foods containing gluten. Symptoms of the disease may disappear as the child grows up, but then appear again at the age of 20-40 years.

Symptoms of gluten intolerance appear within a period of 2 to 4-8 weeks after the introduction of gluten products into the child’s diet.

The disease may manifest itself in the 2-3rd year of life in the case of a hereditary predisposition and under the influence of traumatic factors (when joining a children's group, stress, sudden changes in diet, etc.).

With early artificial feeding with formulas containing flour, the disease can develop as early as 2-3 months of life.

Symptoms of celiac disease in children

The disease begins to manifest itself gradually:

• lethargy appears,
• appetite decreases until it is lost,
• stool disorder occurs.

In most cases, celiac disease is characterized by diarrhea, sometimes polyfecal matter (large amounts of feces) without a change in stool consistency, and constipation rarely develops.

With the further development of gluten intolerance, symptoms such as:

• malnutrition,
• anemia (lack of iron in the blood),
• pallor, dryness and pigmentation of the skin,
• dystrophic changes in hair and nails,
• sometimes glossitis (the tongue becomes crimson in color),
• inflammation of the gums (gingivitis),
• growth retardation,
• muscle hypotonia,
• an enlarged abdomen, against the backdrop of thin arms and legs.

During the period of the most acute development of the disease, the child has a suffering appearance, stools up to 3-4 times a day. The stool is watery, foul-smelling, foamy due to the fermentation of undigested carbohydrates, shiny with fatty inclusions (steatorrhea).

The child is emotionally unstable, irritable, capricious, indifferent to everything around him.

Diagnosis and treatment of a child are the same as for adults.

Complications of celiac enteropathy

Malignant tumors

In patients with celiac enteropathy, lymphoma and small intestinal cancer develop 83-250 times more often than in the general population. Cancers of the esophagus, stomach and rectum are also more common. Overall, malignant tumors are the cause of death in about half of people with celiac disease.

A timely diagnosis of malignant tumors is established only with the help of instrumental methods (endoscopy of the esophagus, stomach, small and large intestines, x-ray examination of the entire gastrointestinal tract).

An unmotivated deterioration in the condition of patients and a number of laboratory parameters with strict adherence to a gluten-free diet is the basis for the assumption that the disease is complicated by a malignant tumor.

The most significant symptoms in this case are:

• intestinal obstruction,
• increased ESR,
• positive reaction to occult blood in the stool,
• deterioration of tests.

Chronic nongranulomatous ulcerative jejunoileitis and enterocolitis

This complication is characterized by multiple chronic ulcers, which are found more often in the jejunum, less often in the ileum, and sometimes in the colon.

Ulcerative jejunoileitis often develops at 50-60 years of age and may be the first manifestation of the disease.

This disease is accompanied by such symptoms as:

• fever,
• general weakness,
• weight loss,
• abdominal pain,
• diarrhea, possibly with blood.

Neuropathy

Neuropathy occurs in 5-8% of patients with celiac disease. It develops mainly in men aged 30-70 years. This complication develops quickly and is manifested by the following symptoms:

• numbness,
• tingling pains,
• weakness of the legs,
• sometimes difficulty writing and dressing.

The cause of these complications has not been identified.

Diagnostics

The World Organization of Gastroenterologists has developed a practical guide that specifies a diagnostic algorithm.

• Autoantibodies and endoscopy with intestinal biopsy (“gold standard”).
• Endoscopy with intestinal biopsy.
• Antibodies.
• Diagnosis based on symptoms, improvement when switching to a gluten-free diet.

Endoscopy

Although endoscopy is a valuable diagnostic tool, it should not be considered the only diagnostic method. The markers of mucosal atrophy discovered by this method are also characteristic of other diseases, for example, tropical sprue, malnutrition, and others.

The main histological signs of gluten enteropathy are atrophy of the mucous membrane with a sharp shortening of the villi or even their complete atrophy and elongation of the crypts, and an increased content of MEL.

Coprological examination and urine analysis

In severe cases of celiac disease, protein is detected in a urine test.

A scatological examination reveals polyfecality (a large amount of feces is excreted). The daily weight of feces can reach 1500-2500 grams. The feces are light in color and have a rancid odor. Microscopic examination shows steatorrhea (excessive fat production).

Blood analysis

With a mild form of the disease, there may be no changes in the blood test.

In moderate and severe forms, there is a lack of iron, vitamin B12, an increase in ESR, and a possible decrease in the number of platelets and leukocytes.

In some patients, anemia may be one of the first or even the only sign of the disease.

A biochemical blood test reveals deviations from the norm only in patients with severe forms of malabsorption and not in all cases.

Significant changes in blood tests are detected when the intestines are damaged and the process spreads to other organs.

Only a decrease in one or another substance in the blood (for example, potassium, sodium, calcium, magnesium, zinc) has diagnostic significance. Physiological blood constants can remain at normal levels for a long time.

Immunological diagnostic methods

In patients with untreated gluten enethropathy, the concentration of antibodies to the ɑ-fraction of gliadin in IgA and IgG is significantly increased. When following a gluten-free diet, their level decreases to normal, which indicates the importance of these indicators for the diagnosis of celiac disease.

Methods characterizing the absorption function of the small intestine

These methods make it possible to judge absorption by the speed and amount of appearance in the blood, saliva, urine or feces of various substances taken orally or introduced through a probe into the duodenum. These methods have diagnostic value only in patients with severe malabsorption (grades II and III).

X-ray examination

This type of examination is not basic, but for some types of gluten intolerance it can confirm the diagnosis. This is because in most cases of celiac disease, the upper parts of the small intestine are affected and there are no changes in the ileum.

With this type of examination , dilation of the loops of the small intestine is revealed; instead of the normal feathery pattern of the mucous membrane, a cellular pattern is observed, characterized by a complete absence of folds of the mucous membrane.

X-rays of the bones show demineralization with a decrease in bone density.

Treatment

The main treatment method is strict lifelong adherence to a diet with complete exclusion of gluten. Avoiding gluten consumption is the only successful treatment option for patients with celiac disease.

The difficulty is that the body does not react with pronounced symptoms to a violation of the diet, and patients believe that it can be violated from time to time. However, studies show that even minor dietary violations lead to progression of the disease.

Another problem is that although it is quite easy to eliminate all gluten-containing grains (wheat, barley, rye, oats) from your diet, it is very difficult to maintain such a diet.

The reason is that wheat is often used as an ingredient in many food products, such as:

• yoghurts,
• confectionery,
• sauces,
• canned food,
• instant coffee, etc.

Strict adherence to the diet is necessary, as it prevents the development of malignant neoplasms in this disease and is a prerequisite for recovery.

Treatment with medications

Patients with celiac enteropathy who develop severe protein deficiency are prescribed drugs containing protein (blood, plasma, albumin, protein).

In a significant number of patients, hormonal agents, such as prednisolone, must be prescribed to achieve remission. As a rule, this remedy must be resorted to when the patient refuses to strictly adhere to a gluten-free diet.

At the same time, astringent, antiseptic, enveloping, absorbent and neutralizing organic acid preparations are prescribed.

Drug therapy is used for disorders of absorption of the small intestine. Therefore, the therapy is the same as for malabsorption syndrome.

Celiac disease and disability

All patients with severe forms of gluten enteropathy during periods of exacerbation, which are accompanied by the development of malabsorption syndrome of II or III severity, loss of ability to work, are subject to transfer to disability group II for a period of 6 months to 1 year.

During periods of stable remission, people can perform work that is not associated with nervous tension, physical exertion, or hypothermia. The job must provide an opportunity to follow a gluten-free diet.

Forecast

The prognosis for celiac disease is favorable with strict adherence to the diet. Violation of the diet leads to complications.

Patients should be under the supervision of a physician.

Prevention

The main method of preventing exacerbations of the disease is strict adherence to a gluten-free diet.

You can get information about the diet in the article “ Gluten-free diet ”.