You are treating 46-year-old man who has suffered a heart attack. Measurement of his serum cholesterol level indicates it is 500 mg/dL. His father died at 37 years of age from a massive heart attack, and one of his 2 younger siblings also has an increased serum concentration of total cholesterol. This patient most likely has a defect in LDL receptor function associated with familial hypercholesterolemia (FH). Which of the following additional signs is characteristic in patients with FH?
A) arcus cornea
B) dysostosis multiplex
C) hyperammonemia
D) hypoglycemia
E) renal lithiasis

Question

Quizplus · Accepted Answer

Arcus cornea is a common sign in patients with familial hypercholesterolemia due to the accumulation of cholesterol in the cornea.  The clinical characteristics of FH include elevated concentrations of plasma LDL and deposition of LDL-cholesterol in the arteries, tendons, and skin. Fat deposits in the arteries are called atheromas and in the skin and tendons they are called xanthomas. Xanthomas and the characteristic arcus cornea (whitish ring on the peripheral cornea) begin to appear in the second decade in heterozygotes, but will appear in childhood in homozygotes.

You Are Treating 46-Year-Old Man Who Has Suffered a Heart