Abstract Introduction Fabry disease is an X-linked hereditary disorder due to the lack or deficiency of the alpha-galactosidase A activity, which leads to the cardiac manifestation such as left ventricular hypertrophy (LVH). Pharmacological chaperone therapy (PCT) is a promising oral treatment to prevent various complications. However, the mid-term effect of PCT on LVH in Japanese Fabry disease patients has not been investigated. Purpose We investigated the mid-term effect of PCT on LVH in Japanese Fabry disease patients. Methods We analysed echocardiographic parameters of 15 Fabry disease patients (6 males and 9 females) followed at Jikei University hospital during the treatment with PCT (4.6 ± 1.2 years). To evaluate LVH, left ventricular mass (LVM) was calculated according to Devereux’s equation and was expressed as gram/height2.7 (g/ht2.7). Results At the start of PCT, all 6 male patients had LVH while only 2 female patients had LVH. LVM was almost stable during PCT treatment both in male patients and female patients (Figure 1). The slope of the changes in LVM was 1.59 ± 1.72 g/ht2.7/year in male patients and was -0.03 ± 1.42 g/ht2.7/year in female patients, which were significantly smaller than the values previously reported without treatment (4.07 ± 1.03 g/ht2.7/year in male patients and 2.31 ± 0.81 g/ht2.7/year in female patients, p0.05) (Figure 2). Conclusions Mid-term PCT could effectively prevent LVH progression in Japanese Fabry disease patients. Especially in female patients, LVH progression was almost completely suppressed by PCT with or without prior LVH at the start of PCT.Figure 1 Figure 2
Nojiri et al. (Sat,) studied this question.