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Disorders of lipoprotein B synthesis: causes, symptoms, diagnosis, treatment

Alexey Kryvenko, medical expert
Last reviewed: 07.07.2025

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Lipoprotein B is necessary for the formation of chylomicrons, low-density and very low-density lipoproteins - the transport form of lipids when entering the lymph from the enterocyte. Disorders of lipoprotein B synthesis are observed in 3 diseases:

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

ICD-10 code

E78.6. Lipoprotein deficiency.

Pathogenesis

Abetalipoproteinemia is associated with a deficiency of the microsomal protein that transfers triglycerides to the endoplasmic reticulum of enterocytes and liver cells, resulting in the failure to form lipoproteins containing apoprotein B. Other apoproteins are successfully synthesized in patients. The disorder results in lipids (primarily triglycerides) not being transported into the lymph and blood. The inability to synthesize apoprotein B-48 and form chylomicrons leads to malabsorption of fat and fat-soluble vitamins (primarily E and A).

Symptoms

In the first year of life, changes in the gastrointestinal tract are predominant: steatorrhea, vomiting, abdominal pain, decreased rate of weight gain. Typically, anemia with acanthocytosis, decreased lifespan of erythrocytes, decreased content of fatty acids and cholesterol in plasma are present. The diagnosis is confirmed by the absence of lipoprotein B in plasma. Biopsies of the mucous membrane reveal vacuolization of enterocytes, absence of apoprotein B with a high concentration of triglycerides.

Treatment

Treatment consists of low-fat mixtures containing medium-chain triglycerides. Regular supplementation with fat-soluble vitamins (vitamin E at a dose of 100 mg per day) is necessary.

Timely administration of treatment helps prevent severe irreversible neurological and ophthalmological disorders.