Program Operations Manual System (POMS)
TN 1 (10-08)
DI 23022.160 Farber's Disease
COMPASSIONATE ALLOWANCE INFORMATION
FARBER’S DISEASE (FD) – Infantile
Farber's disease (FD) included in a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. The disorder is caused by tissue accumulation of the lipid ceramide due to deficient activity of lysosomal ceramidase.
Infantile type 1 and FD type 4: Signs are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Other signs may include demonstration/findings of subcutaneous nodules (lumps/masses under the skin), joint limitation, and laryngeal (vocal cord) involvement. The lungs are affected and individuals may require the insertion of breathing tube (tracheostomy). In severe cases, the liver and spleen are enlarged.
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.
Acid Ceramidase Deficiency, Disseminated Lipogranulomatosis, Farbers Syndrome
DIAGNOSTIC TESTING AND CODING
Diagnosis is confirmed by 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. Another diagnostic approach is the 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. Laboratory confirmation of ceramide accumulation in tissues by chromatography or mass spectrometry is also an established diagnostic test for FD.
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.
Limited neurodevelopment in the first year of life. Most children with Infantile FD type 1 and FD type 4 die by age 2, usually from lung disease.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation: Results of acid ceramidase enzyme activity measured in cultured skin fibroblasts, white cells or amniocytes.
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.
Clinical description of the physical and developmental findings support the diagnosis.
Suggested Listings for Evaluation:
Tracheostomy in a child under 3 years
FD type 1 or 4 with laboratory confirmation of the diagnosis. The listing requires developmental findings consistent with FD type 1 or type 4 and confirmation of the diagnosis by results of acceptable laboratory test(s)