Farber disease
Rare lysosomal storage disease from acid ceramidase deficiency.
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Farber disease, also referred to as Farber's lipogranulomatosis or acid ceramidase deficiency, is an extremely rare lysosomal storage disorder. It is caused by a deficiency of the acid ceramidase enzyme, which leads to the accumulation of ceramide within cells. This progressive condition is inherited in an autosomal recessive pattern.
Quick Facts
- Inheritance
- Autosomal recessive
- Gene
- ASAH1
- Enzyme deficiency
- Acid ceramidase
- Accumulated substance
- Ceramide
- Reported gene variants
- Over 73
- Classic onset
- First few weeks to months of life
- Oldest reported individuals
- 50s and 60s
Facts from the source article.
Genetics
Variants in the ASAH1 gene cause Farber disease by impairing the acid ceramidase enzyme. Affected individuals inherit two nonfunctioning copies of this gene, one from each carrier parent.
Siblings have a 25% chance of having the disorder, a 50% chance of being carriers, and a 25% chance of being unaffected non-carriers. No definitive genotype-phenotype correlations are known. The same gene also causes spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), and some individuals show overlapping symptoms of both conditions.
Diagnosis
Onset typically occurs in early infancy, though later presentations are possible. Classic symptoms appear within the first weeks to months of life, while attenuated forms may emerge at any time in childhood. The condition can be misdiagnosed as juvenile idiopathic arthritis. Confirmation relies on molecular genetic testing of ASAH1 or measurement of acid ceramidase enzyme activity.
Treatment
No disease-specific treatment exists. The anti-inflammatory drug tocilizumab, an interleukin-6 receptor inhibitor, has improved inflammation and pain in some patients.
Bone marrow transplant may reduce granulomas and inflammation in those without significant lung or nervous system involvement. Supportive care includes physical therapy, respiratory support, and mobility aids. Enzyme replacement therapy has shown proof-of-concept in cells and mice, with a clinical study planned by Aceragen.
Did You Know?
- Children with the most severe forms generally die by age 2–3 years.
- The oldest reported individuals living with Farber disease were in their 50s and 60s.
More in Skin Conditions Resulting from Errors in Metabolism
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Farber disease (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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