Genetic Basis of Familial Hypercholesterolemia

Genetic Basis of Familial Hypercholesterolemia

  • Cardiovascular disease is the leading cause of death, attributing to 28% of the total mortality in the Indian population with an average age of onset below 55 years.
  • Contribution of familial hypercholesterolemia (FH) to premature CVD in Indians is unknown, mainly due to the lack of awareness of this condition among health care providers and the general population.
  • Genome-wide association studies have reported that the apolipoprotein E (APOE) gene is strongly associated with LDL-C levels.
  • APOE is a multifunctional plasma protein that is regularly synthesized in several organs such as the liver, brain, kidney and spleen. It is an essential component that mediates the binding of all lipoproteins.
  • The APOE-LDL receptor protein complex contributes significantly to cholesterol levels in the regular cycle of lipid metabolism. We should establish partnerships with academic, professional and other organizations to enhance teaching, training and research.
  • A registry of patients and families should be established for clinical, research and audit purposes. A support group of patients and families should be established in all countries as a major priority for enhancing public, government and health care provider awareness and improving the total quality of care.

Dr. Devaki R Nair

Dr. Devaki R Nair is a Consultant Chemical Pathologist and Clinical Lead for Clinical biochemistry Royal Free hospital and North Middlesex University Hospital. She is Completed BSc MSc MBBS FRCP FRCPath and Director SAS Centre for Cardiovascular Biomarkers, Training Programme Director for Chemical Pathology and Metabolic Medicine; Speciality Lead for Biochemistry HSL. She is involved in conducting many clinical trials for novel lipid-lowering drugs as chief investigator and as principal investigator. She set up one of the first family support centre for FH and was awarded a BHF grant for cascade testing.

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