- autosomal codominant disorder characterised by elevated plasma levels of LDL-C with normal triglyceride, tendon xanthomas and premature coronary atherosclerosis
- homozygous FH occurs in approximately 1 in 1 million persons worldwide, whereas heterozygous FH occurs in 1 in 500 persons
- most homozygous FH present in childhood with cutaneous xanthomas on hand, wrist, elbows, knees, heels, or buttocks. Total cholesterol levels are usually >500mg/dL and devastating complication of homozygous FH is accelerated atherosclerosis
- treatment for FH is LDL apheresis (homozygous) and statin in combination with cholesterol absorption inhibitor
- family history is usually positive for premature atherosclerotic cardiovascular disease
Hypercholesterolemia is caused because of cholesterol deposition in various parts of body and it appeared as yellow batches.Best treatment is cholesterol lowering diet. wanna get more MRCP revision notes check out below link
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