Abstract Body (Do not enter title and authors here): 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/m², 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.