FARBER’S DISEASE (FD) – Infantile

Acid Ceramidase Deficiency; Disseminated Lipogranulomatosis; Farbers Syndrome; Farber disease; Farber lipogranulomatosis

Farber's disease (FD) is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). Affected children have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. There are 7 different types of FD. Infantile FD type 1 and FD type 4 are the most severe.

The disease occurs when both parents carry and pass on the defective gene that regulates the lipid-protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

Diagnostic testing: Diagnosis of FD is confirmed by:

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  Laboratory findings of acid ceramidase activity, which is less than 6 percent of control values, measured in cultured skin fibroblasts (connective tissue cells), white blood cells or amniocytes.

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  Clinical findings (evidence) on biopsy showing granulomas with macrophages containing lipid cytoplasmic inclusions in subcutaneous nodules (masses or lumps under the skin) or other tissues; and

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  Laboratory confirmation of ceramide accumulation in tissues by chromatography or mass spectrometry is also an established diagnostic test for FD.

Physical findings: FD is characterized by 3 classic symptoms:

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  Hoarse voice or weak cry;

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  Small lumps of fat under the skin and in other tissues (lipogranulomas); and

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  Swollen and painful joints.

Other symptoms may include:

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  Difficulty breathing;

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  Enlarged liver and spleen (heptasplenomegaly);

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  Cardiac, pulmonary, and neurological defects;

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  Progressive neurological deterioration;

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  Seizures;

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  Paraparesis (leg paralysis);

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  Developmental delay;

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  Hydrops fetalis;

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  Lethargy; and

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  Failure to thrive.

ICD-9: 272.8

Currently there is no specific treatment for FD. Corticosteroids can help relieve pain. Nodes can be treated with bone marrow transplants, in certain instances, or may be surgically reduced or removed. There is no treatment for the progressive neurologic and developmental impairments.

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  Results of acid ceramidase enzyme activity measured in cultured skin fibroblasts, white cells or amniocytes;

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  Other confirmatory lab tests for FD include reports that address typical histopathology features on biopsy and evidence of ceramide accumulation by chromatography of mass spectrometry; and

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  Clinical description of the physical and developmental findings support the diagnosis.

REMARKS

Diagnosis of FD with findings described in the listing.