Why Farber Disease May Be Misdiagnosed as Juvenile Idiopathic Arthritis

Boris Hugle, MD, MSc, is a staff rheumatologist and researcher at the German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany.

Laura Mueller, outreach coordinator for Plexcera Therapeutics LLC, New York, directs Plexcera’s outreach to parents and physicians to help spread awareness for Farber disease and SMA-PME.

Thierry Levade, MD, PhD, is professor of Biochemistry and Molecular Biology at the Toulouse-Rangueil Medical School and the principal investigator for the Sphingolipids, Cell Death and Tumor Progression group at the Toulouse Cancer Research Center (CRCT INSERM).

Acknowledgments

The authors would like to thank Ivan Galanin for his assistance in the preparation of this manuscript. The technical assistance of M.A. Berges, E. Le Trionnaire (Laboratoire de Biochimie Métabolique, CHU Toulouse), S. Carpentier and V. Garcia (INSERM UMR1037, Toulouse) is also acknowledged.

Authors’ note: If you have patients similar to the one described herein, please contact the authors at [email protected] to learn how to enroll them in a clinical trial.

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