Introduction: Familial hypercholesterolemia is a do-minant autosomal condition that predisposes to early ischemic cardiovascular disease through lifetime ex-posure to elevated LDL-cholesterol. From the time of diagnosis, aggressive management is required with ma-ximal lipid-lowering agents to reduce the risk of life-threatening cardiovascular events.
Methods: We present the case of a young male, diagno-sed with familial hypercholesterolemia, but without treatment, with a history of acute coronary event, which was discovered, in the context of a new acute coronary syndrome. The patient presents in our service 3 hours after the onset of a major angina crisis, the expression of an extensive-anterior STEMI. Upon admission, the patient was hemodynamically stable, with moderate left ventricular systolic dysfunction. Biologically, LDL-cholesterol levels of 251mg/dl and total cholesterol of 331mg/dl are noted.
Results: Emergency coronary angiography revealed the presence of severe tri-coronary lesions, for whi-ch primary coronary angioplasty was performed with pharmacologically active stent in the anterior descen-ding coronary artery and with a balloon at the diago-nal artery. The diagnostic surprise was the echocardio-graphic highlighting of the lower wall akinesia, which raised the suspicion of an old inferior myocardial in-farction, which was also confirmed by the angiogra-phic evaluation which showed the presence of chronic occlusion in the right coronary artery. Patient evoluti-on was slowly favorable with double anti-aggregation, antianginal and maximally hypolipidemic treatment, but without reaching the LDL-cholesterol target af-ter 6 weeks of treatment, which required the addition of another lipid-lowering new agent, represented by PCSK9 inhibitors, with a very good result.
Conclusions: The particularities of this case are the yo-ung age of onset of an acute coronary event in a patient with familial hypercholesterolemia, but without treat-ment, diagnosed with inferior myocardial infarction in the context of another acute coronary event. Screening of grade I relatives is extremely important in these pati-ents for early diagnosis and treatment to prevent major cardiovascular events.