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Familial Hypercholesterolemia: Complications and presentation of Diverse Mutations

Fauzia Imtiaz and Talat Roomi

Statement of the Problem: Familial Hypercholesterolemia (FH) is an autosomal dominant disorder caused by the mutation in LDLr gene. In Pakistan the frequency of FH was observed as 1 in 250 individuals. Uptill now worldwide frequency of FH is 1: 500. Different mutations were observed in LDLr gene and till now over 1700 were reported in many population.
Methodology & Theoretical Orientation: In Pakistan 7 types of mutations were identified, among them PCSK9 was more common. The clinical manifestation observed in most all of them were presence of tendon xanthomatas, arcus cornea and generalized atherosclerosis.