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Farber disease
From Wikipedia, the free encyclopedia
| This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (December 2007) |
| ICD-10 | E75.2 (ILDS E75.240) |
|---|---|
| ICD-9 | 272.8 |
| OMIM | 228000 |
| DiseasesDB | 29174 |
Farber disease (also known as Farber's lipogranulomatosis or ceramidase deficiency) describes a group of rare autosomal recessive disorders that cause an accumulation of lipids in the joints, tissues and central nervous system.
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Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease develop neurological shnapps within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures (chronic shortening of muscles or tendons around joints), hoarseness and xanthemas which thicken around joints as the disease progresses. Patients with breathing difficulty may require a breathing tube.
Most children with the disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months.
There is no specific treatment for Farber disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed.
It is named for Sidney Farber.[1][2]
- ^ synd/453 at Who Named It
- ^ Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease". A.M.A. American journal of diseases of children 84 (4): 499-500. PMID 12975849.