Introduction
Familiar hypercholesterolemia (FH) is genetic disease characterized with extremely high levels of cholesterol leading to cholesterol deposition in skin,tissues and premature atherosclerosis due to defective LDL receptors. In homozygous individuals (HoFH) premature cardiovascular (CV) events could develop at very early ages. Here we report an untreated 25 year-old woman who had a myocardial infarction due to severe diffuse left main stenosis.
Case
25 year-old young woman was admited to our emergency service with complaint of pressure type chest pain for 2 hours.She had a medical history of hiperlipidemia,but she did not use any antilipidemic drugs regularly.She had no history of diabetes,hypertansion and smoking.In her family history,her mother and father were second degree relatives and her mother had an ischemic stroke.One of her materal aunt died suddenly,and another aunt and one of her uncle had a bypass surgery before 50 age.On physical examination, xanthelasma was seen around her eyes and on her eyelids, there were cutaneous xanthoma on her hand and elbows.(Figure:2a-b-c) On electrocardiography,there was 3 mm ST elevation on AVR (Figure:3a) and ST depresion on inferolateral leads(Figure:3b). Echocardiography revealed normal ejection, normal heart valves and chambers. Her fasting lipid profile showed a high total cholesterol (651 mg/dl) and LDL cholesterol (600 mg/dl) with normal triglycerides (86 mg/dl). She was taken to the catheter laboratory,angiography showed diffuse %99 left main stenosis with LAD-D1 bifurcation lession %90, Cx stenosis %70, diffuse atherosclerotic plaque at Rca with %60 stenosis at posterior desending artery (Figure:1a-b-c).She underwent successful coronary artery bypass grafting,CABG was performed with Lima-Lad,Ao-Pda,Ao-D1-Cx sequential venous greft. 6 days later she was discharged with lipid-lowering medication while awaiting initiation of LDL apheresis.
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