[Diagnostic and treatment of familial hypercholesterolemia (FH) in adult: guidelines from the New French Society of Atherosclerosis (NSFA)]

Abstract

Familial hypercholesterolemia (FH) is a frequent monogenetic disease (1/500 for heterozygous and 1/1,000,000 for homozygous). The FH patients are exposed to a dramatic increase of vascular risk of about 50% for men and 30% for women compared to the general population. The diagnosis can be suspected in case of high plasma concentration of LDL-C over 2.20mg/dL, first relatives with FH in the family, xantomas and early cardiovascular events. The "Simon Broone criteria" or the Deutch scale are useful tools to ascertain the diagnosis but DNA testing is the gold standard. The mutations are mainly located on the LDL receptor gene and less frequently on Apo B100 or PCSK9 genes. The "cascade" testing of the family from the index patient is a critical step to detect new cases and start early treatment. Long-term treatment with statins has dramatically decreased the vascular risk to the level of the general population. In primary prevention, LDL-C should be less than 130 mg/dL and in secondary prevention less than 100mg/dL (as a best<70 mg/dL). It is often difficult to reach these goals and combined treatments with ezetimibe or other drugs can be used. When the goals are not reached with the maximum tolerated drug treatment, a decrease of 50% of LDL-C can be acceptable but the patients should be referred to lipid clinics. A yearly vascular survey of the FH patients is recommended, especially in adults or when the treatment goal is not reached. Homozygous FH patients must be referred to a specialized center.