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Identifying familial hypercholesterolemia in acute coronary syndrome

Purpose of review Familial hypercholesterolemia is a frequent genetic disorder characterized by elevated LDL-cholestrol and premature coronary heart disease. Familial hypercholesterolemia remains largely underdiagnosed in the general population and for many patients the initial clinical manifestation is acute coronary syndromes (ACS). Furthermore, many missed diagnosis of familial hypercholesterolemia can also occur during hospitalization for ACS. In this review, we aim to discuss the identification and prognosis of familial hypercholesterolemia after hospitalization for ACS. Recent findings The prevalence of familial hypercholesterolemia was about 10 times higher among patients hospitalized for ACS compared with the general population. Although 70% of patients with familial hypercholesterolemia were discharged with high-intensity statins, and 65% attended cardiac rehabilitation, less than 5% reached the recommended LDL-cholesterol target less than 1.8 mmol/l 1 year after ACS. Furthermore, patients with familial hypercholesterolemia and ACS were at high-risk of recurrence of cardiovascular events after discharge. Summary A systematic screening strategy to identify patients with familial hypercholesterolemia at the time ACS is required to maximize secondary prevention and improve lipid management. It is expected that a substantial number of familial hypercholesterolemia patients would benefit from more effective lipid-lowering drugs after ACS, in addition to statins.