Farber disease synonyms

Farber disease, also known as Farber lipogranulomatosis, is a rare and progressive genetic disorder that falls under the category of lysosomal storage diseases. It is named after the American pediatrician Sidney Farber, who first described the condition in 1952. Farber disease is characterized by the accumulation of a fatty substance called ceramide in various tissues and organs throughout the body.

Synonyms for Farber disease include:

• Farber lipogranulomatosis


• Ceramidase deficiency


• Lipogranulomatosis


• Farber syndrome


• Farber's disease

The condition is caused by mutations in the ASAH1 gene, which leads to a deficiency in the enzyme acid ceramidase. This enzyme is responsible for breaking down ceramide into other substances that can be properly metabolized by the body. Without sufficient acid ceramidase activity, ceramide accumulates in the tissues, causing inflammation, cell death, and the formation of granulomas.

Farber disease typically presents in infancy or early childhood and can affect multiple systems in the body, including the central nervous system, liver, lungs, and joints. Symptoms may vary widely among affected individuals but commonly include progressive joint deformities, hoarseness, difficulty swallowing, enlarged liver and spleen, and neurological problems such as developmental delay and seizures.

Unfortunately, there is currently no cure for Farber disease, and treatment focuses on managing symptoms and improving quality of life. This may involve a multidisciplinary approach, including pain management, physical therapy, respiratory support, and nutritional interventions. Research efforts are ongoing to explore potential therapies, such as enzyme replacement therapy and gene therapy, which hold promise for the future.