Farber Disease | Common Symptoms | Treatment and Management | Genetics
Farber disease symptoms usually appear in early childhood but may also appear at later times and can vary in how quickly they progress. Some can be nonspecific, such as failure-to-thrive, poor growth and recurring fever, making it difficult to diagnose1,2.
The cardinal, or most common, symptoms of Farber disease include3.
Painful and swollen joints, or joint disease
Bumps (nodules) under the skin
Hoarse or weak voice
(due to nodules in the larynx)
In addition to the cardinal symptoms, pulmonary disease is common in most individuals with Farber disease and is the primary cause of death.
Other major organ systems may be affected, and it is important to monitor progression of the condition with a multi-disciplinary medical team.
Signs and symptoms of Farber disease may be mistaken for other more common illnesses.
A genetic test can confirm the diagnosis.
References
1 Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M. A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features. Genet Med. 2018 Apr;20(5):524-530. doi: 10.1038/gim.2017.133. Epub 2017 Oct 19. PMID: 29048419.
2 Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet Journal of Rare Diseases. 2018;13(1). doi:10.1186/s13023-018-0845-z
3 Dyment DA, Bennett SA, Medin JA, Levade T. ASAH1-Related Disorders. GeneReviews®. Published 1993. Accessed October 7, 2022.
