Farber Disease: Clinical Features, Pathogenesis, and Diagnosis

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Alexander Solyom, MD, of Aceragen Inc, provides an overview of Farber disease.

Farber disease is a lysosomal storage disorder due to a deficiency of the enzyme, acid ceramidase. Without appropriate levels of this enzyme there is an accumulation of ceramide that leads to macrophage-driven inflammation that can impact multiple organs.

The most common symptoms of Farber disease are subcutaneous inflammatory nodules, arthritis and/or contractures, and a hoarse/weak voice. However, symptoms and symptom severity can vary greatly in this patient population. As a result, it can be many years before a person is properly diagnose. Farber disease is often misdiagnosed as juvenile idiopathic arthritis (JIA). Disease onset often begins in infancy, but like many lysosomal storage diseases, it may occur later in life.
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