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Clinical characteristics of patients with alpha-galactosidase A gene variants in a German multicentre cohort of early undifferentiated arthritis
  1. Stefan Vordenbäumen1,
  2. Ralph Brinks1,
  3. Jutta G Richter1,
  4. Katinka Albrecht2,
  5. Matthias Schneider1
  1. 1 Heinrich-Heine-University Düsseldorf, Medical Faculty, Hiller Research Center & Department of Rheumatology, Düsseldorf, Germany
  2. 2 Epidemiology, German Rheumatism Research Centre, DRFZ, Berlin, Germany
  1. Correspondence to Dr Stefan Vordenbäumen, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany; stefan.vordenbaeumen{at}med.uni-duesseldorf.de

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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.

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