$Unique_ID{BRK03733} $Pretitle{} $Title{Farber's Disease} $Subject{Farber's Disease Farber's Lipogranulomatosis Acid Ceramidase Deficiency Juvenile Rheumatoid Arthritis} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 535: Farber's Disease ** IMPORTANT ** It is possible that the main title of the article (Farber's Disease) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Farber's Lipogranulomatosis Acid Ceramidase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Juvenile Rheumatoid Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Farber's Disease is a rare metabolic genetic disorder. Major symptoms may include hoarseness, painful and swollen joints, nodules under the skin and growths in the lungs and other parts of the body. The heart and lymph nodes may also be involved. Difficulty in breathing may necessitate the implantation of a breathing tube (tracheostomy) in the throat. Symptoms Farber's Disease may be easily diagnosed. Symptoms usually appear between the ages of two weeks to four months. The first signs of Farber's Disease are swollen joints and a hoarse cry, skin that is sensitive to touch and fingers that are flexed. Difficulty in swallowing, vomiting, breathing problems and fever may also occur. Other signs of the disease may be heart problems due to the growth of nodules around heart valves. Nodules are often found in the spleen, intestines, lymph nodes, kidney, tongue, thymus, gallbladder and liver. The central nervous system is usually involved. Intelligence may or may not be normal. Causes Farber's Disease is characterized by the body's inability to produce lysosomal acid ceramidase which can cause painful and progressive deformity of joints. It is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Farber's Disease affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Farber's Disease. Comparisons may be useful for a differential diagnosis: Juvenile Rheumatoid Arthritis, also known as Still's disease, is an autoimmune disorder causing painful swelling of the joints and bone deformities. Polyarticular (affecting many joints) joint disease associated with enlargement of lymph nodes and the spleen. This disorder occurs in infants and young children, usually before puberty. It is characterized by acute pain affecting many joints, high fever, skin rash, subcutaneous nodules, enlargement of the liver, fluid in the lungs and stunted growth. Therapies: Standard Treatment for Farber's Disease is symptomatic and supportive. Corticosteroid drugs may provide some relief for joint pain. Tracheostomy may be necessary if breathing passages become blocked due to nodular growths. Cosmetic surgery may be useful for removal of growths in the facial area. Genetic counseling will be of benefit for patients and their families. Prenatal diagnosis of Farber's Disease is possible during the fifteenth to sixteenth weeks of pregnancy through the use of amniocentesis (testing of cells taken from the fluid in the water sac surrounding the fetus). Therapies: Investigational Research is ongoing into the metabolic defect which may cause symptoms of Farber's Disease. When this becomes better understood, scientists may be able to develop effective treatments. This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Farber's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring St. N.W. Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 820-829. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2073. FARBER'S DISEASE (LYSOSOMAL ACID CERAMIDASE DEFICIENCY): R.A. Jameson, et al. Ann Rheum Dis (July 1987, issue: 46 (7). Pp., 559-561. DIAGNOSIS OF LIPOGRANULOMATOSIS (FARBER'S DISEASE) BY USE OF CULTURED FIBROBLASTS: J.T. Dulaney, et al.; J Pediatr (July, 1976 issue: 89 (1)). Pp. 59-61.