Farber disease

Farber disease is a rare autosomal recessive lysosomal storage disorder caused by acid ceramidase deficiency. Ceramide accumulation causes painful inflammation, especially in joints and tissues.

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Acid ceramidase: An enzyme that breaks down ceramide into sphingosine and a fatty acid. Its deficient activity prevents normal ceramide breakdown in Farber disease.
Farber disease triad: The classic combination of painful joint swelling, subcutaneous nodules, and a hoarse voice in Farber disease. This characteristic pattern can raise clinical suspicion for the disorder.
Autosomal recessive inheritance: A pattern in which a disorder usually occurs when both copies of a gene carry disease-causing variants. Farber disease generally requires pathogenic variants inherited in both copies of ASAH1.
Gaucher disease: A lysosomal storage disorder caused by deficient glucocerebrosidase and glucosylceramide accumulation. Both are inherited lipid storage diseases, but they involve different enzymes and stored substrates.
Ceramide: A family of sphingolipid molecules that function in cell membranes and cellular signaling. These lipids accumulate when acid ceramidase activity is deficient.
Subcutaneous nodule: A palpable lump beneath the skin, which may arise from inflammation or other tissue changes. Farber disease can produce nodules over joints and pressure points.
ASAH1 gene: The gene encoding acid ceramidase, located on chromosome 8. Its variants provide the molecular basis for inherited Farber disease.
Niemann-Pick disease: A group of inherited lysosomal disorders involving sphingomyelin or cholesterol accumulation, depending on type. Its lipid storage and organ involvement differ from acid ceramidase deficiency.
Lysosome: A membrane-bound cell organelle that breaks down and recycles biological molecules. Acid ceramidase normally degrades ceramide within this cellular compartment.
Dysphonia: Impaired voice production that causes hoarseness, weakness, or other voice changes. Laryngeal involvement can make hoarseness a prominent Farber disease symptom.