Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature

Abstract

IVS4+919G>A is the GLA mutation in Taiwanese young ischaemic stroke patients. Fabry disease is more frequent among non-Asian patients compared to Asian patients.

High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review

“…Furthermore, p.R227Q was the most frequent variant detected in three individuals in Turkey and France [108,117], with this variant considered to be associated with the development of classical FD [42] and previously detected in one individual during the high-risk screening in individuals undergoing dialysis or kidney transplant in Turkey [53]. Additionally, IVS4+919G>A was detected in two Taiwanese individuals [120].…”

“…We reviewed 19 studies [103][104][105][106][107][108][109][110][111][112][113][114][115][116][117][118][119][120][121] on high-risk screening in individuals with central neurological manifestations (Table 3). Most of these studies reported screening in individuals with idiopathic strokes.…”

Screening, diagnosis and treatment of Fabry disease

“…Острое нарушение мозгового кровообращения развивалось в возрасте в среднем 38,4 и 40,3 года, соответственно [22]. В других исследованиях частота болезни Фабри среди больных инсультом была значительно ниже и составила 0,65% в США [23], 0,3% в Аргентине [24] и 0,62% в Тайване [25], в то время как в Китае при обследовании 357 пациентов не было зарегистрировано ни одного случая болезни Фабри [26].…”

High incidence of co‐existing GLA variants and stroke susceptibility

“…We studied with great interest the article by Lee et al [1] who found a frequency of 0.2% of Fabry disease in young male patients with stroke and concluded that this is a mutation in young patients with ischaemic stroke. However, this conclusion may be distorted by the prevalence of the variants in this cohort.…”

“…Although the variant has been associated with higher plasma lysoGb3 and has been reported in patients with cardiomyopathy [3], the epidemiology does not support it as a significant mutation in Fabry disease [4]. The publication of Lee et al emphasizes this statement [1].…”