Farber’s disease is a group of inherited metabolic disorders called lipid storage diseases. These conditions are characterised by excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.
Farber’s disease may affect the liver, heart and kidneys. The condition occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin.
The symptoms of farber’s disease become evident in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Among other symptoms associated with the condition are arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), chronic shortening of muscles or tendons around joints, and vomiting. Those with farber’s disease may also require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged.
As of now, there is no specific treatment for Farber’s disease. However, corticosteroids can be beneficial in relieving pain. Nodes can be treated with bone marrow transplants, in certain instances, or may be surgically reduced or removed. Most children with the classic form of Farber’s disease die by age 2, usually from lung disease. Individuals having a milder form of the disease may live into their teenage years.
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