Farber disease
Farber Disease
Farber disease (pronounced: FAR-ber dih-ZEEZ), also known as Farber's lipogranulomatosis or ceramidase deficiency, is a rare, inherited metabolic disorder.
Pronunciation
- Farber: FAR-ber
- Disease: dih-ZEEZ
Etymology
The disease is named after Dr. Sidney Farber, an American pathologist, who first described the condition in 1952.
Definition
Farber disease is a lysosomal storage disease caused by the deficiency of an enzyme called acid ceramidase. This deficiency leads to an abnormal buildup of fatty materials, known as lipids, in various cells and tissues in the body, which can affect the joints, liver, heart, and central nervous system.
Symptoms
Symptoms of Farber disease may include:
Diagnosis
Diagnosis of Farber disease is typically made through a combination of clinical examination, patient history, and specialized laboratory tests, including genetic testing to identify mutations in the ASAH1 gene.
Treatment
There is currently no cure for Farber disease. Treatment is supportive and aimed at managing symptoms. This may include pain management, physical therapy for joint function, and respiratory support for breathing difficulties.
Prognosis
The prognosis for individuals with Farber disease varies depending on the severity of symptoms and the age of onset. Early onset of severe symptoms can lead to life-threatening complications in infancy or early childhood.
Related Terms
- Lysosomal storage disease
- Acid ceramidase
- Lipids
- Joint pain
- Voice hoarseness
- Skin nodules
- Developmental delay
- Neurological problems
- Genetic testing
- ASAH1 gene
External links
- Medical encyclopedia article on Farber disease
- Wikipedia's article - Farber disease
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