Young Age Onset Multivascular Pathology in a Patient with Severe Dyslipidemia: an Incidental Case or a Particular Type of Familial Hypercholesterolemia?

Abstract

Familial hypercholesterolemia (FH) is a genetic disorder that affects about 1 in 250 people and increases the likelihood of having coronary heart disease at a younger age. We present the case of a 55-year-old patient, known with inferior and anterior myocardial infarction treated by percutaneous coronary intervention and coronary artery bypass grafts, Leriche syndrome, aortic abdominal aneurysm, and bilateral renal stents—pathologies with onset at a young age—who was admitted for fast-paced palpitations, accompanied by increased fatigue. The coronarography did not reveal any acute lesions, but the presence of ventricular tachycardia at admission required the implantation of a cardiac defibrillator. Since the patient presented with early onset severe systemic atherosclerosis, with a lipid profile dominated by hypo-HDL, doubled by an apolipoprotein A1 deficiency, we considered the diagnosis of familial hypercholesterolemia. Due to the high-risk profile, the association between a statin and a PCSK9 inhibitor was initiated at discharge. At the 1-month follow-up control, a significant reduction of LDL-C has been achieved, with a simultaneous increase of HDL-C serum levels.