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Clinical analysis of familial hypercholesterolemia, and establishing its gudeline

Familial hypercholesterolemia (FH) is a common genetic disease, incidence of which may be 1/200-500. The patients of FH show hypercholesterolemia, cutaneous and tendinous xanthomas, and coronary artery disease due to premature atherosclerosis.

FH patients are known to have mutation in LDL receptor gene which is known to function in incorporating LDL into the cells. Recently, mutations of other genes including LDLRAP1 and PCSK9 have been reported to be involved in the function of LDL receptor, and cause hypercholesterolemia. In our laboratory, 14 homozygous and 350 heterozygous FH patients have been followed and are subjected to analyze the risk for cardiovascular diseases. We have made guidelines for management of FH based on our data and reported to the Ministry of Health, Labor and Welfare.

References

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