Familial hypercholesterolemia and reducing the cardiovascular risk: between theory and practice

Introduction: Familial hypercholesterolemia (FH) is a genetic disorder that causes significant increase in circulating levels of LDLc through mutations of the genes responsible for the LDL receptor synthesis. The LDL level increases up to 3-4 times in the heterozygous form, while in the homozygous form it can reach le-vels up to 1000 mg/dl. Thus, the atherosclerosis process has an accelerated rhythm, generating specific cardio-vascular pathologies with early onset. This case report highlights the severity of the coronary heart disease as a complication of an undiagnosed FH, in the absence of an effective prevention.

Methods: A 62-year-old patient with family history of early cardiovascular disease, known with unexplored coronary artery disease (inferior myocardial infarction conservatively treated, angina pectoris) and mixed dys-lipidemia, addresses to the ER department for anterior chest pain without response to nitroglycerin and acute worsening of the general condition by left ventricular failure phenomena.

Results: The clinical examination noticed resting dys-pnea, diffuse crackles in both pulmonary areas, tachy-cardic sounds, BP 150/90 mmHg, diffuse diaphoresis, bilateral corneal arches and many lipid conjunctival de-posits. The ECG and echocardiography showed signs of chronic inferior infarction and acute subendocardial ischemia in the anterolateral territory with LVEF 25%. Biologically: myocardial enzimatic changes which con-firmed the anterolateral NSTEMI supposition and very high levels of LDLc 350 mg/dl. According to the Dutch FH score, the patient totals 15 points, meaning certa-in FH. After clinical stabilization, the coronarography describes tricoronary lesions with revascularization surgery recomandation. Atferwards, 3 coronary-artery bypass graft procedure was performed, with favorable clinical evolution: increase of the effort tolerance and improvement of ecographic parameters (LVEF up to 50%). From biological tests, under treatment with ma-ximum dose of statin, LDLc level decresed to 120mg/ dl, therefore, ezetimibe was assoctiated to regimen for a suplimentar decrease to a target level of 70 mg/dl.

Conclusions: T he impact of FH on cardiovascular events is significant. The estimated cardiovascular risk in a known patient with untreated FH is approximately 20 times higher and the risk of acute events occurrence is 4 times higher compared to patients with similar risk factors but with no FH. Reaching the LDLc target is es-sential in these patients. The therapeutic management includes administration of high-dose statins or combi-nated therapy with ezetimibe or PCSK9 inhibitors.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
ESC search engine
CODE: 379
CME Credits: 10 (Romanian College of Physicians)