Farber's disease
- Article
- 2021-03-05
Farber's disease, also known as Farber's lipogranulomatosis, describes a group of hereditary 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 joints, tissues and central nervous system. nervous system. The liver, heart and kidneys can also be affected. The onset of the disease usually begins in early childhood, but can also occur later in life. Symptoms of the classic form can include moderately impaired mental ability and difficulty swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, lumps under the skin (and sometimes in the lungs and other parts of the body) and vomiting. Some people may need a breathing hose. In severe cases the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children of these parents have a 25 percent chance of inheriting the condition and a 50 percent chance of carrying the faulty gene. The condition affects both men and women.
Therapy
Currently, there is no specific treatment for Farber's disease. Corticosteroids can help relieve pain. Bone marrow transplants can improve granulomas (small masses of inflamed tissue) in individuals with little or no lung or nervous system complications. In the elderly, granulomas can be surgically reduced or removed.
Prognosis
Most children with the classic form of Farber's disease die by the age of 2, usually from lung disease. Children born with the most severe form of the disease usually die within six months, while those with a milder form of the disease can live into their teens or young adulthood.
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