Morbidity and mortality associated with Farber disease and prospects for therapy

Edward H. Schuchman, John Mitchell, Alex Solyom

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations

Abstract

Introduction: Farber disease is the lysosomal storage disorder due to the deficiency of acid ceramidase activity. Although it was described over six decades ago, it remains poorly described due to its unusual clinical presentation and rarity. No targeted therapies currently exist. Areas covered: The history of Farber disease, acid ceramidase and research leading to the development of therapy will be summarized, along with current knowledge regarding the clinical presentation and patient management. Expert opinion: Farber disease is often misdiagnosed as idiopathic juvenile arthritis. The clinical presentation is broad, with onset and survival ranging from early childhood to adults. Multiple organ systems, including the central nervous system, may be involved, but the most consistent finding in all patients is subcutaneous nodules that form mostly around joints. The nodules consist of lipid-filled macrophages, and inflammation is a major driver of the pathobiology. Pain, dysphonia and limitation of movement are common associated findings in patients. Current management is symptomatic aiming to reduce pain and inflammation. Hematopoietic stem cell transplantation has been undertaken in several patients, and may have positive effects on the non-neurological findings. Studies in Farber disease mice have also revealed the potential of enzyme replacement therapy, and first-in-man clinical trials are currently being planned.

Original languageEnglish
Pages (from-to)717-726
Number of pages10
JournalExpert Opinion on Orphan Drugs
Volume5
Issue number9
DOIs
StatePublished - 2 Sep 2017

Keywords

  • Ceramide
  • arthritis
  • inflammation

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