18 year old Abodh is on treatment for his abnormal lipid profile blood tests. All of the following statements are true about familial hypercholesterolemia, except
Correct Answer: Patients with receptor-defective LDL receptor defects have the worst prognosis
Description: Patients with homozygous FH present in childhood with cutaneous xanthomas on the hands, wrists, elbows, knees, heels. Total cholesterol levels can be higher than 1000 mg/dL. The devastating complication of homozygous FH is accelerated atherosclerosis, which can result in disability and death in childhood. Patients with receptor-defective LDL receptor defects have a better prognosis but almost invariably develop clinically apparent atherosclerotic vascular disease by age 30, and often much sooner. Ref: Harrisons Principles of Internal Medicine, 18th Edition, Page 3149
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