FARBER’S DISEASE (FD) – Infantile
|
ALTERNATE NAMES
|
Acid Ceramidase Deficiency; Disseminated Lipogranulomatosis; Farbers Syndrome; Farber
disease; Farber lipogranulomatosis
|
DESCRIPTION
|
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, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic testing: Diagnosis of FD 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.
-
•
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
-
•
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:
-
•
Hoarse voice or weak cry;
-
•
Small lumps of fat under the skin and in other tissues (lipogranulomas); and
-
•
Swollen and painful joints.
Other symptoms may include:
-
-
•
Enlarged liver and spleen (heptasplenomegaly);
-
•
Cardiac, pulmonary, and neurological defects;
-
•
Progressive neurological deterioration;
-
-
•
Paraparesis (leg paralysis);
-
-
-
-
ICD-9: 272.8
ICD-10: E75.6
|
PROGRESSION
|
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.
|
TREATMENT
|
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.
|
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; and
-
•
Clinical description of the physical and developmental findings support the diagnosis.
|
Suggested Listings for
Evaluation: |
DETERMINATION |
LISTING
|
REMARKS
|
Meets |
103.02 |
Tracheostomy in a child under 3 years. |
110.08
|
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).
|
111.17 |
|
Equals |
114.09 |
Diagnosis of FD with findings described in the listing.
|
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
|