Premature heart disease is when heart disease occurs before 55 years in men and 65 years in women. In premature heart disease, the prevalence of dyslipidemia (high cholesterol levels without symptoms) is 75-85%.
Fifty-four percent of all patients with premature heart disease and 70% of those with a lipid abnormality have a familial disorder. Hence, a screening test for lipids is recommended for first-degree relatives of patients with myocardial infarction, particularly if premature. Screening should begin with a standard lipid profile and if normal, further testing should be done for Lp(a) and apolipoproteins B and A-I.
About 25% patients with premature heart disease and a normal standard lipid profile will have an abnormality in Lp(a) or apo B. Elevated apo A-1 and HDL are likewise associated with reduced CHD risk.
First-degree relatives are brothers, sisters, father, mother; second-degree relatives refer to aunts, uncles, grandparents, nieces, or nephews and third-degree relatives refer to first cousins, siblings, or siblings of grandparents.
Familial hypercholesterolemia (FH) is a genetic disorder, characterized by high cholesterol, specifically very high LDL “bad cholesterol”) levels and premature heart disease. Patients may develop premature cardiovascular disease at the age of 30 to 40. 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.
To detect familial high cholesterol levels, a universal screening must be done at age 16. The cholesterol levels in heterozygous patients are between 350 to 500 mg/dL, and in homozygous, the levels are between 700 to 1,200 mg/dL.
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