Primary Dyslipidemia
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Familial hypercholesterolemia (hereditary) is a common genetic disease caused by mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) catabolism.
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Autosomal dominant genetic disease.
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The diagnosis can be made with genetic testing or clinical criteria like the Dutch Lipid Clinic Network criteria.
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Once we identify familial hypercholesterolemia (FH) in a patient, we recommend screening of all first-degree relatives.
Autosomal dominant: get the abnormal gene from only one parent – you will get the disease.