Farber's Disease

What is Farber's disease?

Farber's disease (also known as Farber's lipogranulomatosis) is a one of a group of rare inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the central nervous system, joints, and tissues. The liver, heart, and kidneys also may be affected. Farber's disease is caused by the deficiency of the enzyme called ceramidase.

Both parents need to carry and pass on the defective gene for a child to have Farber's disease. The disease affects both males and females. In the disease's classic form, onset typically begins in early infancy but may occur later in life. Neurological symptoms may include:

  • Problems with swallowing
  • Increased lethargy and sleepiness
  • Chronic shortening of muscles or tendons around the joints
  • Moderately impaired mental ability

Other symptoms may include arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Some people may need a breathing tube. Most children with the classic form die by age 2, usually from lung disease.

In one of the most severe forms of the disease, an enlarged liver and spleen can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months.

Currently there is no specific treatment for Farber's disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on people with little or no lung or nervous system complications. Older people may have granulomas surgically reduced or removed.

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Learn About Clinical Trials
Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with Farber's disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Farber's disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Farber's disease at Clinicaltrials.gov.

Where can I get more information about Farber's disease?

The following organizations offer information and other resources:

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