Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia

CONCLUSION: Approximately half of the children clinically diagnosed with FH had pathogenic variants in FH causative genes. The serum LDL-C levels tend to be high in FH children with pathogenic variations, and the levels are by the types of variants. Genetic analysis is useful; however, further study on FH without any variants is required.PMID:34011801 | DOI:10.5551/jat.62807

Source: Journal of Atherosclerosis and Thrombosis - May 20, 2021 Category: Cardiology Authors: Keiko Nagahara Tsuyoshi Nishibukuro Yasuko Ogiwara Kento Ikegawa Hayato Tada Masakazu Yamagishi Masa-Aki Kawashiri Ayako Ochi Junya Toyoda Yuya Nakano Masanori Adachi Katsumi Mizuno Yukihiro Hasegawa Kazushige Dobashi Source Type: research