[A YOUNG MAN WHOSE LDL-CHOLESTEROL IS GREATER THAN 1.9 G/L]

Familial hypercholosterolemia (FH) is both a frequent (estimated prevalence of heterozygous FH: 1/200 to 1/500) and underdiagnosed (< 5 V of diagnosed FH in most countries) genetic disease. Non-treated FH is associated with an increased risk of coronary heart disease (CHD) linked to premature atherosclerosis. The diagnosis of FH should be considered when a subject presents with plasma LDL-cholesterol (LDL-C) level > 190 mg/dl (4.9 mmol/l), premature CHO, tendon xanthomas, familial history of hyperGholesterolemia, premature CHD or cardiac death. Cascade screening and genetic analysis help to identify affected relatives. The therapeutic objective is to obtain LDL-C target < 130 mg/dL in young adults without additional cardiovascular risk factors, < 100 mg/dL in the majority of FH patients and < 70 mg/dL in adults with known CHD. Therapeutic management is based on the combination on lifestyle and dietary counselling and pharmacological approaches with maximal potent statin dose, ezetimibe and bile acid sequestrants. In a near future, PCSK9 inhibitors should be a valuable option in FH patients not at LDL-C goal.