Disbetalipoproteinemiya
Contents:
Description:
Disbetalipoproteinemiya rather often is found in homozygotes on E-2 apoprotein. The disbetalipoproteinemiya by means of diagnosing of an isoform of apoprotein E is found in clinic, but relation level cholesterol/triglycerides blood more than 0,3 proves a disease "disbetalipoproteinemiya".
Disbetalipoproteinemiya's symptoms:
Korntsveyga does not have Abetalipoproteinemiya (Bassena — a syndrome) — in blood (β-lipoproteins, hilomikroy, lipoproteins with a density below 1,063 (LPNP and LPONP), erythrocytes have multiple awl-shaped outgrowths (acanthocytes), the vitamin deficiency of E and A (result of lack of LPNP transporting fat-soluble vitamins) develops. Disturbances of absorption in intestines, and also (owing to demyelination of axons) lacks of coordination, an ataxy, a nystagmus, a pigmental degeneration of a retina and lag in intellectual development are frequent. The steatorrhea arises owing to a lack of the apoprotein B defining formation of chylomicrons in intestines cells. At a biopsy of a small bowel — fatty inclusions in epithelial cells.
Gipobetalipoproteinemiya — reduced contents (β-lipoproteins, often proceeds asymptomatically. The maintenance of LPVP is normal or is increased, triglycerides — from 70 to 120 mg of %, LPNP — from 20 to 70 mg of %. Absorption of fats is usually not broken.
Disbetalipoproteinemiya's reasons:
Gipobetalipoproteinemiya (R) and an abetalipoproteinemiya (r) — the inherited frustration caused by mutations of a gene of apolipoprotein B, main apolipoprotein of chylomicrons and LPONP (*200100, 2r23r24, a gene of ARES, a set of alleles). Defects in big subunit of a molecule of a microsomal belkaperenoschik of triglycerides are also found (* 157147).
Disbetalipoproteinemiya's treatment:
There is no specific therapy. Diet: rich with polyunsaturated fatty acids from family of linolenic acid and vitamin E products (vegetable oils: sunflower, corn, cotton, soy, linen, hempy), cereals of a rough grinding and bean. Vitamin E in high doses (to 100 mg/kg/days in stages inside) can reduce expressiveness of neurologic manifestations. At the same time appoint Retinolum for prevention of a hypovitaminosis And since vitamin E in high doses can cause its development.
