• Satoshi Yamashita, Masao Saotome, Hiroshi Satoh, Jun Kajihara, Yusaku Mochizuki, Kimito Mizuno, Mamoru Nobuhara, Keisuke Miyajima, Azumi Kumazawa, Hiromutsu Tominaga, Hiroyuki Takase, Kei Tawarahara, Nobuyuki Wakahara, Masaki Matsunaga, Yasushi Wakabayashi, Yuji Matsumoto, Hajime Terada, Makoto Sano, Hayato Ohtani, Tsuyoshi Urushida, Hideharu Hayashi, Satoshi Ishii, Hiroki Maruyama, and Yuichiro Maekawa.
• Hamamatsu Circulation Forum.
• Circ. J. 2019 Aug 23; 83 (9): 1901-1907.

BackgroundAlthough previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.Methods and Results:Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25-79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels.ConclusionsThe serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients.

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