Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges

Abstract excerpt

### Learning objectives Clinical familial hypercholesterolaemia (FH) was systematically described for the first time in 1937. In 17 families and in four generations, xanthomatosis, hypercholesterolaemia and cardiovascular disease (CVD) followed a pattern of an inborn error of metabolism and monogenetic autosomal dominant inheritance.1–3 However, single-patient cases of xanthomatosis and CVD had been reported as...

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