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Farber Disease
Monday, 25 July 2005
Monday, 25 July 2005
Ceramidase deficiency or Farber lipogranulomatosis

What

Farber disease is a genetic, autosomal recessive disorder. Patients with this disease lack an enzyme called ceramidase which breaks down fats. Thus, the unbroken fats build up in different parts of the body, causing abnormalities in the voice, skin, joints, liver and brain.

Who

Farber disease is very rare, with about 50 documented cases in 2002. There is equal incidence in males and females and in all ethnic groups. Signs and symptoms of this disorder usually appear in children when they are several weeks or months of age.

Signs and Symptoms

Children with Farber disease often have a hoarse voice or a weak cry (when they are infants), difficulty with breathing, skin with small lumps (nodules), and swollen and painful joints (mostly of the hands and wrists) that can limit movement. Some children have a large liver and spleen (hepatosplenomegaly). Most, but not all, children will develop learning and motor problems over the first months to years of life.

Possible Causes

This disease is inherited in an autosomal recessive manner, meaning that an affected child received a copy of the gene responsible for this disorder from each parent. Each parent would be a carrier of the gene for Farber’s disease and not express symptoms of the disease; they would have one copy of the gene with a genetic change (mutation) and a second copy that functions normally. The gene responsible for this disorder makes a protein called ceramidase whose normal function is to break down fats. When this protein is not working, fats build up in various parts of the body, leading to the signs and symptoms of the disease.

Diagnosis

A blood test and a skin biopsy (small piece of skin is taken to be analyzed) are used to measure the amount of ceramidase in the child. The lack of ceramidase will confirm that the child has Farber’s disease.

Treatment

Doctors usually prescribe pain medication to help children with their painful joints and to make them as comfortable as possible. There is also a case of a 9 year old girl who underwent surgical treatment of the hand which helped decrease her pain and allowed her to perform some daily activities.

Prognosis

Since there are several subtypes of the disease, the prognosis varies from one person to the next. Most children with this disease die before they are 5 years old. Some survive into their teens and twenties with no signs of learning problems. Although there is no cure for the disease, researchers are working to learn more about Farber’s disease and how to cure it.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

DMOZ
A website with links to various arthritis support groups to help patients deal with the painful joints.

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
Website has information on current research studies and a newsletter.

Genetic Alliance
Website has information on many genetic diseases as well as various projects to connect people through online forums and emails, information on upcoming events related to different genetic diseases. Has information in Spanish.

CLIMB Children Living with Inherited Metabolic Diseases
Provides advice, information and support to families affected by metabolic diseases

Google Search for Farber Disease

References and Sources

Moritomo H (2002). Surgical treatment of hand disorders in Farber’s disease: a case report. J Hand Surg [Am]. Mayo; 27(3):503-7. Salo M. Farber Disease Diagnosed after Liver Transplantation. Journal of Pediatric Gastroenterology and Nutrition, 36:274-277. OMIM. Farber lipogranulomatosis www.ncbi.nlm.nih.gov/entrez/disomim.cg?id=228000