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血管杂音、结节、动脉粥样硬化、钙化、心绞痛
Familial hypercholesterolemia (FH) is an autosomal-dominant LDL-receptor (or ApoB/PCSK9) defect causing lifelong elevated LDL cholesterol. Heterozygous FH (~1/250): high LDL, tendon xanthomas, corneal arcus, premature coronary artery disease. Homozygous FH (~1/250,000): severe childhood hypercholesterolemia, cutaneous/tendon xanthomas, aortic stenosis, early myocardial infarction. Treatment: high-intensity statin, ezetimibe, PCSK9 inhibitors; LDL apheresis/liver transplant for homozygous.
High LDL cholesterol; tendon xanthomas; corneal arcus; premature coronary disease; family history; cutaneous xanthomas (homozygous)
LDL-receptor/ApoB/PCSK9 mutation impairs LDL clearance, causing lifelong elevated LDL and accelerated atherosclerosis.
High-intensity statin; ezetimibe; PCSK9 inhibitor; LDL apheresis; liver transplant for homozygous; family cascade screening
Cascade family screening; early statin treatment; healthy diet; no smoking.
It is recommended to visit the Cardiology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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