The gene that explains one quarter of all familial hypercholesterolemia with very high blood cholesterol has been revealed. Familial hypercholesterolemia is the most common genetic disorder leading to premature death, found in 1 in 200 people.
The reason why lipoprotein(a) concentrations are raised in individuals with clinical familial hypercholesterolemia is unclear. The hypotheses that high lipoprotein(a) cholesterol and LPA risk genotypes are a possible cause of clinical familial hypercholesterolemia, and that individuals with both high lipoprotein(a) concentrations and clinical familial hypercholesterolemia have the highest risk of myocardial infarction.
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| Clinical manifestation of Homozygous Familial Hypercholesterolemia, interdigital xanthoma |
Source: labmedica
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