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Farber Disease

Overview

Farber disease is a very rare, progressive, and potentially life-threatening disease which happens when a fat (lipid) called ceramide builds up in the body. The buildup causes a wide range of severity and symptoms, making diagnosis difficult. A blood test can confirm the disease, and more treatment options are needed 1.

It is unknown how many people have Farber disease because the symptoms are similar to other diseases such as Juvenile Idiopathic Arthritis (JIA) or early onset Rheumatoid Arthritis (RA) 2.

Causes

Farber disease is a genetic or inherited disease which is caused by mutations in the ASAH1 When there’s a problem with this gene, the body produces a defective version of an enzyme called acid ceramidase that doesn’t work like it should. This disease is also known as acid ceramidase deficiency 3, 4.

The acid ceramidase enzyme helps break down a lipid (fat), called ceramide, inside the cells. When there is too much ceramide stored in the body, Farber disease symptoms appear.

Symptoms

Farber disease symptoms may appear over time and can vary in how bad they are, and how quickly they progress, making it difficult to diagnose 5, 6.

The most common symptoms usually appear first in childhood and include:

  • Painful and swollen joints, often misdiagnosed as Juvenile Idiopathic Arthritis (JIA) or early onset Rheumatoid Arthritis
  • Bumps (nodules) under the skin
  • Hoarse or weak voice

Other symptoms include:

  • Central nervous system disease (e.g., seizures, muscle weakness)
  • Lung disease
  • Abnormal bone growth or osteolysis
  • Pain
  • Recurring or persisting fever
  • Inflammation throughout the body
  • Failure to thrive
  • Developmental delay or loss of milestones
  • Liver and / or spleen enlargement
  • Cherry-red spots in eyes

If you think you or your child may exhibit Farber disease symptoms, please consult your healthcare provider for more information.

Diagnosis

A blood or buccal swab test (where a cotton swab is rubbed against the inside of the cheek to collect cells) can be used to confirm a diagnosis of Farber disease in two ways:

  1. A genetic test (blood or buccal) can confirm the ASAH1 gene mutation; and
  2. An enzyme activity test (blood) can confirm acid ceramidase activity.

Talk to your doctor about Genetic Counseling to discuss your options before starting your family.

Research

There are currently no treatments specific to Farber disease. The only treatments available may temporarily address some of the symptoms, but don’t prevent the disease from getting worse 7.

A natural history study is currently being conducted to better understand the presentation, likely course, and impact of Farber disease. All patients diagnosed with Farber disease are eligible, including both those who have and have not undergone hematopoietic stem cell transplant (HSCT). Additionally, if you have had a loved one pass away who was diagnosed with Farber disease, their records are also eligible for this study and could help lead to a deeper understanding of the condition.

Family Support

If you or your family member are living with a genetic disease, NTSAD is here as a resource that can help with diagnosis, care giving and beyond.

More Information / Resources

  1. National Organization for Rare Disorders (NORD) – Information about Farber disease and other rare diseases for patients and families
  2. Lysosomal Disease Network – Maintains an anonymous and free clinical research registry for patients
  3. Genetics Home Reference – Resources to help people understand genetics, genetic diseases, and Farber disease
  4. Genetic and Rare Disease Information Center (GARD) – Resources and information for people living with genetic diseases, including links to financial resources, research registries, and news and events
  5. Online Mendelian Inheritance in Man (OMIM) – Fully referenced Farber disease information

Explore More

altResearch for Families

alt Studies Recruiting Patients

altPublications - Read article: Acid ceramidase deficiency: Farber disease and SMA-PME, Fabian P. S. Yu, Samuel Amintas, Theirry Levade, and Jeffrey A. Medin

 

Footnote References:

  1. “Farber's Disease.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, www.rarediseases.info.nih.gov/diseases/6426/farbers-disease.
  2. Solyom, Alexander, et al. “Farber Disease (Acid Ceramidase Deficiency) Epidemiology: Literature Review and Patient Cohort Data Indicate Moderate and Attenuated Phenotypes Are Likely Underrepresented in the Medical Literature and Are Underdiagnosed.” Molecular Genetics and Metabolism, vol. 120, no. 1-2, 2017, doi:10.1016/j.ymgme.2016.11.325. www.mgmjournal.com/article/S1096-7192(16)30744-2/fulltext
  3. “Farber Lipogranulomatosis; FRBRL.” OMIM www.omim.org/entry/228000.
  4. “Farber's Disease.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/farbers-disease/.
  5. “Farber's Disease.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, www.rarediseases.info.nih.gov/diseases/6426/farbers-disease.
  6. “Farber Lipogranulomatosis; FRBRL.” OMIM omim.org/entry/228000.
  7. “Farber's Disease Information Page.” National Institute of Neurological Disorders and Stroke, American Journal of Diseases of Children. www.ninds.nih.gov/Disorders/All-Disorders/Farbers-Disease-Information-Page.

 

 

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