Session Type: Poster Session (Tuesday)
Session Time: 9:00AM-11:00AM
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 resulting deficiency of the lysosomal enzyme acid ceramidase leads to accumulation of the pro-inflammatory sphingolipid ceramide, causing a broad spectrum of disease severity and presentation of symptoms, which may delay diagnosis or lead to misdiagnosis. This study represents the first comprehensive, systematic collection of retrospective and prospective clinical data on the natural history of Farber disease.
Methods: The Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease (NCT03233841) is collecting retrospective and prospective data, including demographics, clinical presentation, phenotype, and diagnostic history, of patients diagnosed with Farber disease who have or have not undergone hematopoietic stem cell transplantation (HSCT). This data, along with specific prospective clinical evaluations in living patients, will be communicated.
Results: Since November 2017, 43 patients (26 living, 17 deceased) have been enrolled in the study. To date, patients have been enrolled at 15 centers in 9 countries. In patients whose data was available for analysis, the average age of the living patients is 9 years (range 1 to 28 years), and the average time from onset of first symptoms to diagnosis is 2 years (range < 1 to 12 years). Of the non-HSCT patients, 32% were treated with a biologic. Childhood Health Assessment Questionnaire Disability Index Scores (CHAQ DI) ranged from 1.25 to 3 across the non-HSCT population (n=14), including those patients treated with DMARDs and/or biologics.
Conclusion: Among patients representing the broad phenotypic spectrum of Farber disease, from rapidly progressive (severe) to slowly progressive (attenuated), the data confirms that patients can be misdiagnosed as having JIA, and that there is a high disease-related burden as demonstrated by the CHAQ DI scores, which symptomatic treatment with biologics does not resolve. Demographic information and numbers of patients enrolled indicate that Farber disease is likely not as rare as previously thought.
To cite this abstract in AMA style:Solyom A, Sundberg E, Mitchell J, Grant C, Ferreira C, Harmatz P, Mungan N, Bulut F, Lampe C, Hahn A, Guelbert N, Arslan N, Makay B, Puri R, Bijarnia-Mahay S, Selim L, Gamal el Din I, Kapoor S, DiRocco M, Ozen S, Batu E, Gokcay G, Torcoletti M, Kimura A, Magnusson B. Farber Disease (Acid Ceramidase Deficiency): The First Natural History Study of This Rare Disease Involving Symptoms Which Can Mimic JIA [abstract]. Arthritis Rheumatol. 2019; 71 (suppl 10). https://acrabstracts.org/abstract/farber-disease-acid-ceramidase-deficiency-the-first-natural-history-study-of-this-rare-disease-involving-symptoms-which-can-mimic-jia/. Accessed April 13, 2021.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/farber-disease-acid-ceramidase-deficiency-the-first-natural-history-study-of-this-rare-disease-involving-symptoms-which-can-mimic-jia/