Farber Disease | Common Symptoms | Treatment and Management | Genetics
Farber disease is a rare genetic (or inherited) condition that is caused by mutations, also called pathogenic variants, in the ASAH1 gene. Farber disease is progressive and potentially life-threatening. It is unknown exactly how many people have this condition because the symptoms overlap with other diseases, such as juvenile idiopathic arthritis (JIA) or early onset rheumatoid arthritis (RA)1.
Farber disease is caused by pathogenic variants in the ASAH1 gene. Genes are the part of the genetic code (DNA) that give instructions to our cells so that they function properly. The ASAH1 gene gives instructions to make an enzyme called acid ceramidase.
If the genes have variants (mutations), the instructions may not work correctly. This can cause a genetic disease. Pathogenic variants in the ASAH1 gene cause the body to produce acid ceramidase enzyme that doesn’t work like it should, resulting in a deficiency in acid ceramidase activity2.
The acid ceramidase enzyme helps break down a fat (lipid) called ceramide that accumulates inside cells. People whose acid ceramidase enzyme does not work correctly have ceramide build up in their cells and body. When there is too much ceramide stored in the body, Farber disease symptoms appear, and with time the disease progresses.
Farber disease and similar conditions that inappropriately store materials like ceramide in the cells are called lysosomal storage disorders.
Other names for Farber disease include AC deficiency; Acid ceramidase deficiency; Ceramidase deficiency; Farber lipogranulomatosis; Farber’s disease; N-Laurylsphingosine deacylase deficiency.
References
1 Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. PMID: 30029679.
2 Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. Genomics. 1999 Dec 1;62(2):223-31. doi: 10.1006/geno.1999.5940. PMID: 10610716.
