Abstract 4145146: Familial Hypercholesterolemia With Concurrent Premature Coronary Artery Disease and Renal Artery Stenosis - A case report.

INTRODUCTION: Familial Hypercholesterolemia (FH) is an underdiagnosed hereditary disorder of Low-density lipoprotein cholesterol (LDL-C) metabolism ,strongly associated with atherosclerotic cardiovascular disease (ASCVD). We present an FH case which shows the importance of early management. CASE REPORT: A 40 year old female with a history of Diabetes Mellitus, Hypertension (HTN), Non ST Elevation Myocardial Infarction (NSTEMI) came for angina like chest pain for 6 months. Her Coronary Angiography (CAG) showed Triple Vessel Coronary Artery Disease with 90% Left Main, 90% Left Anterior Descending, 80% Left Circumflex (LCX), 95% Right Coronary (RCA) arteries occlusion; Coronary Artery Bypass Grafting (CABG) was done. Her medical records showed poorly managed systolic blood pressure readings up to 180-200 mm Hg and hypercholesterolemia despite being on 3 antihypertensives and statins. On physical examination BMI 22 kg/m 2 , xanthelasmas, corneal arcus, elbow and achilles tendon xanthoma(figure.1),B/L Renal and carotid bruit was present. Her brother had premature CAD, daughters had hypercholesterolemia signs. Lab results indicated high cholesterol with, LDL 372.8 mg/dl; LDL/HDL 11.65. Multi-slice CT showed diffuse atheromatous changes of descending aorta, mesenteric arterial system and > 60% bilateral (L>R) renal artery stenosis(RAS). By Dutch Lipid Clinic Network criteria phenotypic FH was diagnosed and sent to lipid clinic for FH management. DISCUSSION: FH is an Autosomal Dominant disorder that leads to high LDL-C, escalating CAD risk by 20-fold. High intensity Statins cut LDL-C by 50%, pivotal in FH management. In our case late diagnosis of FH led to uncontrolled HTN due to RAS alongside CAD; Early diagnosis and medical management could have prevented the outcome as early initiation of statin in FH reduces their risk to age-matched population levels. Conclusion: FH is a systemic atherosclerosis often at subclinical level that needs to be investigated, also patients with premature ASCVD(male<55, female <60 years) and uncontrolled HTN with renovascular pathology should be screened for FH as early intense pharmacological management prevent serious atherosclerotic complications.