Farber

Farber disease is a rare lysosomal storage disease caused by a deficiency of the enzyme acid ceramidase. This leads to an accumulation of the lipid ceramide in various tissues of the body, including the nervous system, bones, and joints. The disease is named after Sidney Farber, the pathologist who first described the condition in 1952.

Symptoms and signs

Farber disease is characterized by a triad of symptoms: joint pain and swelling, subcutaneous nodules, and progressive hoarseness. The onset of symptoms is typically in early infancy, although later onset forms of the disease have been described. Other symptoms can include difficulty breathing, hepatosplenomegaly, and developmental delay.

Genetics

Farber disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disease. The gene responsible for Farber disease is called ASAH1 and is located on chromosome 8.

Diagnosis

The diagnosis of Farber disease is based on the clinical symptoms and confirmed by laboratory testing. This includes measuring the activity of the acid ceramidase enzyme in white blood cells and genetic testing for mutations in the ASAH1 gene.

Treatment

There is currently no cure for Farber disease. Treatment is supportive and aimed at managing the symptoms. This can include pain management, physical therapy for joint contractures, and respiratory support for those with lung involvement.

Prognosis

The prognosis for Farber disease is generally poor, with most individuals dying in early childhood. However, the course of the disease can vary, and some individuals with milder forms of the disease have survived into adulthood.

See also

• List of cutaneous conditions
• List of genetic disorders
• List of lysosomal storage disorders

References

Farber Resources
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