Clinical characteristics of patients with alpha-galactosidase A gene variants in a German multicentre cohort of early undifferentiated arthritis

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations of the alpha-galactosidase A gene ( GLA ) which causes premature morbidity due to organ dysfunction following deposition of globotriaosylceramide (Gb3).1 Presenting symptoms include musculoskeletal pain such as acroparesthesias2 which often result in rheumatological consultations.3 Concerns have been raised that patients with FD are often falsely attributed with...