Farber lipogranulomatosis

Farber Lipogranulomatosis (also known as Farber's disease, Farber's lipogranulomatosis, or ceramidase deficiency) is a rare, inherited metabolic disorder that belongs to a group of diseases known as lysosomal storage diseases. The disease is named after Dr. Sidney Farber, the pathologist who first described the condition in 1952.

Etiology

Farber lipogranulomatosis is caused by mutations in the ASAH1 gene, which provides instructions for producing an enzyme called acid ceramidase. This enzyme is responsible for breaking down a type of fat called ceramide. Mutations in the ASAH1 gene disrupt the normal function of acid ceramidase, leading to an accumulation of ceramide within cells. This buildup of ceramide is toxic and leads to the signs and symptoms of Farber lipogranulomatosis.

Symptoms

The symptoms of Farber lipogranulomatosis typically appear in early infancy and may include a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Over time, individuals with Farber lipogranulomatosis may develop neurological problems such as developmental delay and progressive weakness.

Diagnosis

Diagnosis of Farber lipogranulomatosis is based on the clinical symptoms, and can be confirmed by genetic testing to identify mutations in the ASAH1 gene. Additionally, a biopsy of affected tissues can reveal the characteristic lipogranulomas.

Treatment

There is currently no cure for Farber lipogranulomatosis. Treatment is supportive and aims to manage the symptoms. This may include pain management, physical therapy for joint contractures, and respiratory support for individuals with lung involvement.

Prognosis

The prognosis for individuals with Farber lipogranulomatosis varies depending on the severity of symptoms. Some individuals with a severe form of the disease do not survive past early childhood, while those with milder forms may live into adolescence or adulthood.

See also

• Lysosomal storage disease
• ASAH1
• Ceramide

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