Farber Lipogranulomatosis

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Farber Lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body. In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body, particularly around the joints.

Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease develop neurological shnapps within the first few weeks of life. These symptoms may include moderately impaired mental ability and problems with swallowing. The liver, heart and kidneys may also be affected. Other symptoms may include vomiting, arthritis, swollen lymph nodes, swollen joints, joint contractures, hoarseness and xanthemas which thicken around joints as the disease progresses. Patients with breathing difficulty may require a breathing tube.

Mutations in the ASAH1 gene cause this disease.

The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in the compartments that digest and recycle materials in the cell, where it breaks down fats called ceramides so that these fats can be used by the body. Ceramides make up one subtype of a group of fats called sphingolipids.

The ceramide accumulation in this disease results from an inability to break down ceramides in the lysosomes. Mutations in the ASAH1 gene lead to a shortage of functional acid ceramidase, which prevents lysosomes from breaking down ceramides properly. Without the activity of acid ceramidase, ceramides can build up in the lysosomes of cells and tissues in the lung, liver, colon, muscles used for movement, cartilage, and bone. This buildup causes the signs and symptoms, and the severity of the disease depends on the amount of ceramide accumulation.

There is no specific treatment for Farber disease. Corticosteroids may be prescribed to relieve pain. Bone marrow transplants may improve small masses of inflamed tissue on patients with little or no lung or nervous system complications. Older patients may have granulomas surgically reduced or removed.

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