The Problem of Heridity: Patients with family history of high cholesterol should be screened early!


New Delhi : A person is said to be suffering from pre-mature heart disease when he is diagnosed with the condition before the age of 55 years in men 65 years in women. The prevalence of dyslipidemia in these patients is usually found to be as high as in the range of 75-85%, said Padma Shri Awardee Dr K K Aggarwal, President Heart Care Foundation of India (HCFI) and Immediate Past National President Indian Medical Association (IMA).

Dyslipidemia is high levels of cholesterol and/or triglycerides in the blood. About 54% of all patients with premature heart disease and 70% of those with a lipid abnormality have a familial disorder. Hence, it is recommended that the first-degree relatives of patients who have had a heart attack, especially if premature, should be screened for lipid abnormalities.

First-degree relatives of a person include brothers, sisters, father, mother or children; second-degree relatives are aunts, uncles, grandparents, grandchildren, nieces, or nephews and third-degree relatives refer to first cousins, or siblings of grandparents.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “Screening should begin with a routine lipid profile and if the results of this are normal, then further testing should be done for lipoprotein (a) and apolipoproteins B and A-I. About 25% patients with premature heart disease and a normal standard lipid profile may have abnormal Lp(a) or apo B profile. High apo B levels and reduced apo A-I levels are associated with increased risk of heart disease. Similarly, ahigh Lp(a) level increases the risk of developing heart disease”.

Familial hypercholesterolemia (FH) is a genetic disorder, which runs in families and is characterized by high cholesterol levels, in particular, very high levels of LDL or the bad cholesterol and premature heart disease. Patients with FH are at an increased risk of developing premature heart disease at an earlier age of 30 to 40 years.

Heterozygous FH is a common genetic disorder, occurring in 1:500 people in most countries. Homozygous FH is much rarer, occurring in 1 in a million births. Heterozygous FH is normally treated with drugs. Homozygous FH often does not respond to medical therapy and may require apheresis or liver transplant.

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