Disaccharidase-deficiency enteropathies - Symptoms

Disaccharide deficiency enteropathies are divided into primary (hereditary) and secondary, arising as a result of diseases of the gastrointestinal tract or the use of certain medications (neomycin, progesterone, etc.).

Hereditary disaccharide-deficiency enteropathies are caused by the congenital absence or insufficient production of enzymes by the mucous membrane of the small intestine that break down disaccharides. Until recently, it was believed that the type of inheritance was not precisely established. In recent years, it has been proven that lactase deficiency is inherited in an autosomal recessive manner.

Genetically determined lactase deficiency usually occurs between the ages of 3 and 13, sometimes later - between 4 and 20. Lactose intolerance often runs in families, developing in several members of the same family.

Congenital deficiency of disaccharidases can be compensated for a certain period of time. However, a long-term deficiency of enzymes that break down disaccharides leads to morphological changes in the intestinal mucosa, a “breakdown” of compensation, and the development of disaccharide-deficiency enteropathy.

Acquired (secondary) deficiency of disaccharidases develops in various diseases of the gastrointestinal tract. Lactose intolerance caused by lactase deficiency has been found in patients with chronic enteritis, nonspecific ulcerative colitis, celiac disease, and Crohn's disease. Other researchers have also reported poor tolerance of sucrose and milk by patients with chronic enterocolitis due to lactase deficiency. According to some data, milk intolerance is observed in 76% of patients with chronic enteritis and enterocolitis.

Secondary disaccharide-deficiency enteropathy in chronic intestinal diseases is virtually no different in clinical manifestations from primary enteropathy and is characterized by the appearance or intensification of symptoms of fermentative dyspepsia.

The clinical picture of primary and secondary disaccharide deficiency enteropathy is the same and has the following symptoms:

• the appearance soon after taking disaccharides or products containing them (milk, sugar), of a feeling of fullness, bloating, rumbling, pouring, diarrhea (profuse watery diarrhea);
• release of large amounts of gases, almost odorless;
• the appearance of liquid foamy stool with a sour smell, the color of the stool is light yellow, the reaction of the stool is sharply acidic, it contains particles of undigested food;
• detection in feces during microscopic examination of a large number of starch grains, fiber, and crystals of organic acids;
• development of malabsorption syndrome with continued long-term use of disaccharides.

[1], [2], [3], [4], [5], [6]