Introduction: Familial hypercholesterolaemia’s (FH) frequency is mostly estimated by using clinical and not genetical criteria. This genetic disorder consists of high levels of LDL-cholesterol, with hypolipemiant therapy resistance and poor results in general lifestyle interven-tions.The importance of this condition derives from the fact that it puts the patient at high risk of major cardiovascular events from young ages, in the absence of proper therapy.
Methods: We present the case of an overweight, smo-ker, 49-year-old male with FH (father died at 43 of a myocardial infarction, daughter with high levels of LDL-cholesterol) that suffered a cardiac arrest due to an acute myocardial infarction and was admitted 2 weeks after hemodynamical stabilisation and 3 conse-cutive coronary revascularizations in our clinic to initi-ate the phase II cardiovascular rehabilitation program. Even under maximum therapy with statin and fibra-te the lipid profile remained elevated, so we added a cholesterol intestinal absorption inhibitor with modest changes in the paraclinical parameters.The cardiopul-monary exercise test parameters: maximum heart rate, heart rate reserve, blood pressure, workload, respirato-ry exchange ratio, peak oxygen content confirmed the patient’s good evolution.
Results: The goals of the cardiovascular rehabilitation program in this case are to regain the patient’s functio-nal capacity and to ameliorate the dyslipidemic profile by physical exercise and lifestyle changes, but the main challenge remains diagnosing the underlying genetic mutation that will properly guide the therapy, exten-ding the investigation to the patient’s family in order to prevent major cardiovascular events. The Dutch Lipid Clinic Network diagnostic criteria for familial hyper-cholesterolemia includs the patient in probable familial hypercholesterolemia.
Conclusions: Cardiovascular rehabilitation can be challenging in a patient with cumulative risk factors, with personal and family history of familial hyper-cholesterolemia and ischaemic heart disease. It offers important benefits in terms of regaining an optimum exercise performance level, accelerating the recovery process and preventing recurrent major coronary events.