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 hypercholest erolemia (FH) in Spain. PATIENTS AND METHODS: A group of 301 cases Of FH from central and north reg ions 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 fam ilial history of ischaemic heart disease. CONCLUSIONS: Different from the results of literature, xanthomas are very i nfrequent in FH in Spain, so diagnosis should be suspected from other data. The high prevalence of familial history of ischaemic heart disease support s the usefulness of this feature as a marker for diagnosis and prevention.