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FAMILIAL HYPERCHOELSTEROLEMIA PROGRAM IN SPAIN

Abstract
It is estimated that 80 000 to 100 000 people in Spain suffer from familial hypercholesterolemia (FH). This is associated with early development of cardiovascular disease. In 1997, the Spanish Familial Hypercholesterolemia Foundation was established. It aims to provide social support, promote the early diagnosis of FH by DNA testing, and prevent the development of premature cardiovascular disease. So far, 1 850 FH index cases have been included in the Spanish FH registry. Premature cardiovascular disease was present in 22% of cases (31% in males and 14.3% in females). One hundred and eighty one different mutations in the LDLr gene have been found in the samples from the registry, and 66 are novel mutations. This knowledge has allowed the development of a quick and accurate mycroarray system for high-throughput analysis of the LDL receptor gene. This genetic test is available in Spain and could be used worldwide in the future. Recently, a prospective cohort study of FH families has begun to determine the long-term evolution of this disorder and the predictive factors responsible for the development of cardiovascular disease in this population.

Key words
Familial hypercholesterolemia, coronary heart disease, LDL receptor, genetic testing, biochip

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