Definition:
Also known as Farber’s lipogranulomatosis or ceramidase deficiency, Farber Disease is a rare autosomal recessive disorder caused by an accumulation of fatty material leading to abnormalities in the joints, liver, brain, skin, and throat.

Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. But for those who have Farber Disease, the gene responsible for making this enzyme is mutated.  Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder. Farber disease is extremely rare: Fifty cases were documented in 2002.  This disorder affects males, females, and ethnic groups equally.

Symptoms:
Typically, the symptoms of Farber Disease appear within the first few weeks of life. Neurological conditions, such as impaired mental ability and difficulty swallowing, are some of the first symptoms to appear in an affected newborn. Other symptoms include painful joint swelling, hoarse cries, swollen lymph nodes, nodule formations under the tissue, around vocal chords or joints, and breathing difficulties. In severely progressive cases, an enlarged liver and spleen can also be present. Children born with this type of Farber Disease usually die within six months.

Inheritance Patterns:
Farber disease is an autosomal recessive disorder.

Diagnosis and Testing:
Examinations of tissue specimens or white blood cells which detect reduced levels of acid ceramidase activity will confirm a diagnosis.

Life Expectancy:
Life expectancy is six months to two years of age. Commonly, the cause of death is lung disease.

Treatment:
There are few treatments for Farber Disease. Corticosteroids are often prescribed to reduce the pain. As long as there are no lung or nervous system complications, bone marrow transplants may improve the small masses of swollen tissue. These nodules can also be surgically removed or reduced in older patients.