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Farber's disease

Farber's disease Definition

Farber's disease is also referred to as Farber's lipogranulomatosis or ceramidase deficiency it illustrates a group of unusual autosomal recessive disorders that results from the build up of lipids in the joints, central nervous system and tissues.

Farber's disease Prognosis

By age 2, several children die often because of lung disease. When the disease is severe a swollen spleen and liver may be diagnosed shortly after birth. Within 6 months, children who are born with this disease die.

Farber's disease Symptoms and Signs

Usually in early infancy the disease starts but it can happen later in life. Within the first weeks of life, children who have the classic type of Farber disease develop neurological shnapps. The symptoms may comprise of the following: swallowing problems and damaged mental ability. Along with this the following organs are affected: kidneys, liver and heart. Several symptoms may also be experienced by patients such as arthritis, vomiting, enlarged lymph nodes, enlarged joints, joint contractures, xanthemas and hoarseness that results to the thickening around the joints as the disease develops. A breathing tube may be needed by patients that experiences breathing difficulty.

Farber's disease Treatment

The specific treatment for Farber disease is not yet known. To ease the pain, Corticosteroids may be prescribed. Patients who have granulomas with small or no lung or nervous system complications may be improved through bone marrow transplants. For older patients granulomas are surgically removed or decreased.

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