Disaccharidase deficiency enteropathies: symptoms

Disaccharidase-deficient enteropathy is divided into primary (hereditary) and secondary, arising from diseases of the gastrointestinal tract or taking certain medications (neomycin, progesterone, etc.).

Hereditary disaccharide-deficient enteropathies are caused by congenital absence or inadequate secretion of the small intestine by enzymes that break down the disaccharides. Until recently, it was believed that the type of inheritance is not exactly established. In recent years, it has been proven that lactase deficiency is inherited by autosomal recessive type.

Genetically determined lactase deficiency occurs usually at the age of 3 to 13 years, sometimes and later - from 4 to 20 years. Lactose intolerance often has a family character, developing with several members of the same family.

Congenital insufficiency of disaccharidases within a certain time can be compensated. At the same time, the long-existing deficiency of enzymes that disaggregate disaccharides leads to morphological changes in the intestinal mucosa, the "failure" of compensation, and the development of disaccharide-deficient enteropathy.

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

Secondary disaccharide-deficient enteropathy in chronic intestinal diseases by clinical manifestations does not actually differ from the primary one and is characterized by the appearance or intensification of symptoms of fermentation dyspepsia.

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

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

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