Hipercholesterolemia rodzinna – czynnik ryzyka miażdżycy

© Borgis - Medycyna Rodzinna 3-4/2001, s. 134-136

Elżbieta Pac-Kożuchowska

Summary
Hyperlipoproteinemias are the most frequent disorders of lipid metabolism in the organism. They may occur as the primary problems (inherited) conditioned by the genetic control disorders. The objective of the paper was the evolution of lipid metabolism in the family of a 6-months-old infant diagnosed with blood serum turbidity. The examinations were performed on the father (32 years old), on the mother (25 years old) and three siblings (2, 3 and 5 years old). In the father and three children the following parameters were confirmed: serum turbidity, increased level of total cholesterol and LDL cholesterol as well as low values of the HDL-chol/total chol. rate (below 0,20); this indicates the diagnosis of hypercholesterolemia. The presented case of familial hypercholesterolemia points to heterozygotic form in which the clinical symptoms occur at the later age and have a mild clinical course. Inherited hyperlipoproteinemias favour precious development of atherosclerosis.

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