Farber disease is a rare, progressive disease caused by a reduction (deficiency) of an enzyme called acid ceramidase. Farber disease is also sometimes called Farber lipogranulomatosis, acid ceramidase deficiency, or an ASAH1-related disorder.
Farber disease causes excess amounts of lipids (ceramide) to build up to harmful levels in the cells of different organs and tissues causing damage and inflammation.
Farber disease is a rare metabolic disease with three hallmark symptoms that appear in most patients in childhood:
- joint disease (swollen or painful joints with impaired movement)
- inflammatory bumps or nodules under the skin
- a weak or hoarse voice
These symptoms can appear at any age and in any order. They can also vary in severity and in how quickly they progress, often making Farber disease difficult to diagnose. Many patients are initially misdiagnosed as having juvenile idiopathic arthritis (JIA), the most common type of inflammatory joint disease in children.
Information for patients and families about participating in clinical trials is available at the following website:
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No-Cost Genetic Testing
Aceragen is partnering with PerkinElmer Genomics laboratory to provide no-cost genetic testing of the ASAH1 gene. Variants in the ASAH1 gene cause acid ceramidase deficiency presenting as Farber disease or SMA-PME (spinal muscular atrophy with progressive myoclonic epilepsy).
If you suspect that you or a family member might have Farber disease, talk to your doctor to see if genetic testing is right for you.
For more information:
Genetic testing kits can be requested by your healthcare provider by emailing firstname.lastname@example.org.