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Abstracts tagged "Farber disease"

  • Abstract Number: 2724 • ACR/ARP Annual Meeting 2019

    Farber Disease (Acid Ceramidase Deficiency): The First Natural History Study of This Rare Disease Involving Symptoms Which Can Mimic JIA

    Alexander Solyom1, Erik Sundberg 2, John Mitchell 3, Christina Grant 4, Carlos Ferreira 5, Paul Harmatz 6, Neslihan Mungan 7, Fatma Bulut 7, Christina Lampe 8, Andreas Hahn 8, Norberto Guelbert 9, Nur Arslan 10, Balahan Makay 10, Ratna Puri 11, Sunita Bijarnia-Mahay 11, Laila Selim 12, Iman Gamal el Din 12, Seema Kapoor 13, Maja DiRocco 14, Seza Ozen 15, Ezgi Batu 15, Gulden Gokcay 16, Marta Torcoletti 17, Alan Kimura 18 and Bo Magnusson 2, 1Enzyvant, Basel, Switzerland, 2Karolinska University Hospital, Stockholm, Sweden, 3Montreal Children's Hospital, Montreal, Canada, 4Children's National Medical Center, Washingotn, DC, 5Children's National Medical Center, Washington, DC, 6UCSF Benioff Children's Hospital Oakland, Oakland, CA, 7Cukurova University Hospital, Adana, Turkey, 8University Hospital Giessen, Giessen, Germany, 9Children's Hospital of Cordoba, Cordoba, Argentina, 10Dokuz Eylul University Hospital, Izmir, Turkey, 11Sir Ganga Ram Hospital, Delhi, India, 12Cairo University Children's Hospital, Cairo, Egypt, 1313Lok Nayak Hospital and Maulana Azad Medical College, Delhi, India, 14Istituto Giannina Gaslini, Genoa, Italy, 15Hacettepe University Hospital, Ankara, Turkey, 16Istanbul University, Istanbul, Turkey, 17University of Milan, Milan, Italy, 18Enzyvant, Cambridge, MA

    Background/Purpose: The cardinal clinical symptoms of Farber disease (arthritis/contractures, subcutaneous granulomatous nodules, dysphonia) may be misdiagnosed as JIA. Mutations in the ASAH1 gene and the…

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