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Lipoprotein B synthesis disorders: causes, symptoms, diagnosis, treatment

Alexey Portnov, medical expert
Last reviewed: 20.11.2021

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Lipoprotein B is necessary for the formation of chylomicrons, low and very low density lipoproteins, a transport form of lipids upon admission from enterocyte to lymph. Violations of lipoprotein B synthesis are noted in 3 diseases:

abetalipoproteinemia (Bassen-Korzweig disease);
homozygous hypobetalapoprotienemia;
Anderson's disease.

ICD-10 code

E78.6. Insufficient lipoproteins.

Pathogenesis

Abetalipoproteinemia is associated with a deficiency of the microsomal protein that transmits triglycerides to the endoplasmic reticulum of enterocytes and liver cells, as a result of which lipoproteins containing apoprotein B are not formed. Other apoproteins in patients are successfully synthesized. Violation leads to the fact that lipids (mainly triglycerides) are not transported to lymph and blood. The inability to synthesize the apoprotein B-48 and form chylomicra leads to malabsorption of fat and fat-soluble vitamins (mainly E and A).

Symptoms

In the first year of life, the changes in the activity of the digestive tract predominate: steatorrhea, vomiting, abdominal pain, and the rate of increase in body weight. Typically, the addition of anemia with acanthocytosis, a decrease in the lifespan of erythrocytes, a decrease in the content of fatty acids and cholesterol in the plasma. The diagnosis is confirmed in the absence of lipoprotein B in the plasma. In the biopsy specimens of the mucosa, vacuolization of enterocytes is detected, the absence of apoprotein B at a high concentration of triglycerides.

Treatment

Treatment consists in the appointment of mixtures with a low fat content, including medium chain triglycerides. It is necessary to constantly supplement the introduction of fat-soluble vitamins (vitamin E at a dose of 100 mg per day).

Timely prescription of treatment can prevent severe irreversible neurological and ophthalmic disorders.