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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 classical rheumatological diagnoses, precluding early effective treatment.3
We therefore performed GLA sequencing (Centogene, Rostock, Germany) in a multicentre national cohort of 798 patients with early undifferentiated arthritis (500 female, mean follow-up 19.5±7.4 months) (Course And Prognosis of Early Arthritis study, CAPEA,4 ethics approval 3368). Patients aged above 18 years with clinical arthritis for ≤26 weeks in ≥2 joints, or 1 joint with morning stiffness >30 min were eligible for inclusion.
As detailed …
Handling editor Josef S Smolen
Funding This study was supported by Shire International GmbH, a member of the Takeda group of companies, via an investigator-initiated grant (IIR-DEU-001746) to SV. The CAPEA study was supported by a study grant from Pfizer and Hiller-Research Foundation.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.