[Clinical manifestations of heterozygote familial hypercholesterolemia in Spain. Study 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) cholesterol 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.