Clinical manifestations of heterozygous familial hipercholesterolaemia in Spain.: Report of 301 cases from the central and northern areas

RATIONALE: TO characterize clinical manifestations of familial hypercholesterolemia (FH) in Spain. PATIENTS AND METHODS: A group of 301 cases Of FH from central and north regions of Spain. RESULTS: With a mean (SD) colesterol level of 346 (58) mg/dl, only 7.6% of the patients have xanthomas and 20% ischaemic heart disease. 51% have a familial history of ischaemic heart disease. CONCLUSIONS: Different from the results of literature, xanthomas are very infrequent in FH in Spain, so diagnosis should be suspected from other data. The high prevalence of familial history of ischaemic heart disease supports the usefulness of this feature as a marker for diagnosis and prevention.