Ailevi hiperkolesterolemi, düşük dam iteli lipoprotein reseptör genindeki otozomal dominat defekt sonucu plazmada düşük dansiteli lipoprotein kolesterolün artışı ile giden, kalıtsal bir hastalıktır. Bu makalede ailevi hiperkolesterolemi tanısı alan iki olgu sunuldu. Ailevi hiperkolesteroleminin etyopatogenezi, klinik özellikleri ve tedavisi gözden geçirildi.
Familial hypercholesterolemia is a genetic disorder due to an autosomal dominant defect in the gene coding the low density lipoprotein receptor and results in increased plasma levels of low density lipoprotein cholesterol. In this article, two patients diagnosed as familial hypercholesterolemia were presented and the pathogenesis, clinical findings, and therapeutic aspects of familial hypercholesterolemia were reviewed.
