Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited 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. The liver, heart, and kidneys may also be affected. Disease onset typically begins in early infancy but may occur later in life. Symptoms of the classic form  may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Some people may need a breathing tube. 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 born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.


Currently there is no specific treatment for Farber’s disease.  Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.


Most children with the classic form of Farber’s disease die by age 2, usually from lung disease. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood.


Research funded by the  National Institute of Neurological Disorders and Stroke (NINDS) focuses on better understanding of how neurological deficits arise in lipid storage diseases. NINDS-funded studies are underway to develop treatments for Farber's disease and other lipid storage diseases, including drugs and gene- and cell-based therapies. NINDS supports the Lysosomal Disease network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes longitudinal studies of the natural history and/or treatment of these disorders. Additional studies will emphasize the quantitative analysis of the central nervous system structure and function, and develop biomarkers (signs that can indicate the diagnosis or progression of a disease) for these disorders.