Title: Familial Hypercholesterolemia: Complications and presentation of Diverse Mutations

Abstract:

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. Development of aortic and supravalvular stenosis leads to premature Myocardial infarction. The high prevalence may have founder effect due to which there is loss of genetic variability in a population occur. This may happens due to migration of small no of individuals who carry FH mutation with them and it showed its effect latter in coming generations.

Findings:

Conclusion & Significance: The clinical complication related with various mutations are atherosclerosis, stenosis of aortic and ventricular valves and premature heart attacks are common.

Biography:

Dr Fauzia Imtiaz is working as professor of Biochemistry at Dow University of Health Sciences. She completed her MBBS, M.Phil and Ph.D from Karachi University. She has keen interest in heart diseases and worked on heritability of familial hypercholesterolemia in Pakistani population in her Ph.D research. She published 50 articles in National and International journals.