Treatment and Management

Farber Disease | Common Symptoms | Treatment and Management | Genetics

Current Treatments and Disease Management

There are no treatments specific to Farber disease. Currently available treatments and medications may temporarily address some of the symptoms, but do not prevent the disease from progressing or getting worse1,2

  • Anti-inflammatory medications for joint swelling and pain
  • Supportive therapies may include: 
    • Feeding tubes
    • Breathing/respiratory support
    • Physical and/or occupational therapy 
    • Mobility aids such as a walker or wheelchair
    • Anti-seizure medications
  • Hematopoietic stem cell transplant or bone marrow transplant (HSCT or BMT) for inflammation (swelling) and nodules (bumps)3.

There are ongoing clinical research studies that intend to better understand possible medicines that may help people living with Farber disease.

There are no specific treatments for Farber disease. 
Building the right medical team is essential for early interventions.

Specialists

People living with Farber disease may benefit from working with a team of specialists who can help manage life with the condition1.

SpecialistWho Treats or Manages…
DermatologistSkin diseases
GastroenterologistStomach, liver, and digestive diseases
GeneticistGenetic diseases, including diagnosis and follow-up
NeurologistBrain, nervous system, and neuromuscular diseases
OpthalmologistEye diseases
OrthopedistBone and joint diseases
Otolaryngologist (ENT)Ear, nose, and throat diseases
PulmonologistLung diseases
RheumatologistSwelling, pain, and stiffness in the joints
Physical Rehab specialist / Physical medicine rehabFunction and mobility limitations

Explore more about Farber disease


References

1 Dyment DA, Bennett SA, Medin JA, Levade T. ASAH1-Related Disorders. GeneReviews®. Published 1993. Accessed October 7, 2022.

2 Mitchell J, Solyom A, Makay B, et al. Farber disease: Implications of anti-inflammatory treatment. Molecular Genetics and Metabolism. 2016;117(2):S81-S82. doi:10.1016/j.ymgme.2015.12.364

3 Ehlert K, Levade T, Di Rocco M, Lanino E, Albert MH, Führer M, Jarisch A, Güngör T, Ayuk F, Vormoor J. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis. 2019 Mar;42(2):286-294. PMID: 30815900

Suspect Farber Disease? No-Cost Genetic Testing Available.