Summary
Familial hypercholesterolemia (FH) is a common genetic hyperlipidemia in Japan as well as in other countries. We have found 11 mutants of LDL-receptor gene, which account for 40% of ourA FH series, while in the remaining 60% the LDL-receptor gene mutants were still unknown. Thus, LDL-receptor gene mutations are highly heterogenous in Japanese FH patients, but K790X is a common mutant (about 20% in our FH patients). Familial defective apolipoprotein B (FDB) were never found in Japanese FH patients. Clinical features of FH, including responses to drugs, are partially dependent on LDL-receptor genotype. For the treatment of coronary heart disease in FH heterozygotes, LDL-apheresis is effective, and may become the therapy of choice in severe type of FH.
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References
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© 2000 Springer-Verlag Tokyo
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Mabuchi, H., Nohara, A., Koizumi, J., Kajinami, K. (2000). Molecular Genetics and Clinical Features of Japanese Patients with Familial Hypercholesterolemia. In: Kita, T., Yokode, M. (eds) Lipoprotein Metabolism and Atherogenesis. Springer, Tokyo. https://doi.org/10.1007/978-4-431-68424-4_6
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DOI: https://doi.org/10.1007/978-4-431-68424-4_6
Publisher Name: Springer, Tokyo
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