Cardiology>>>>>Hyperlipidemia
Question 1#

Familial hypercholesterolemia (FH) is a common autosomal dominant disorder resulting from mutations leading to impaired hepatic clearance of low-density lipoprotein (LDL) from the circulation.

All of the following statements are true regarding heterozygous FH except that

A. it occurs in 1 in 5,000 persons
B. it is associated with serum low-density lipoprotein cholesterol (LDL-C) two to three times above the average
C. it is associated with four- to sixfold increased risk of premature coronary heart disease (CHD)
D. without treatment, the average age for development of symptomatic CHD is 45 years in men and 55 years in women
E. ninety percent of FH heterozygotes exhibit detectable xanthomas on the extensor tendons of the hands or on the Achilles tendons by the age of 39

Correct Answer is A

Comment:

It occurs in 1 in 5,000 persons. Homozygous FH occurs in 1 in 1 million individuals while heterozygous FH in 1 in 500 individuals. The other statements are true.