Farber disease

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	Farber disease;
ICD-10	E75.2 (ILDS E75.240)
ICD-9	272.8
OMIM	228000
DiseasesDB	29174

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Farber lipogranulomatosis; ceramidase deficiency; disseminated lipogranulomatosis; acid ceramidase deficiency; N-Laurylsphingosine deacylase deficiency; Farber's disease

Overview

Farber disease describes a group of rare autosomal recessive disorders that cause an accumulation of lipids in the joints, tissues and central nervous system.

Historical Perspective

Farber disease is named for Sidney Farber.^[1]^[2]

Pathophysiology

Farber disease is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in cells and tissues throughout the body, particularly around the joints. The brain, liver, heart and kidneys are the organs commonly affected in this disorder.

Genetics

It is associated with a deficiency in ASAH1.^[3]

Epidemiology and Demographics

About 80 individuals affected by this condition have been reported worldwide.
Infants are affected by this disorder.
The disorder affects both males and females.

Natural History, Complications and Prognosis

Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of Farber disease develop neurological symptoms within the first few weeks of life.
Most children with the disease die by age 2, usually from lung disease. In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months.

Daignosis

Symptoms

Moderately impaired mental ability
Problems with swallowing. The Other symptoms may include
Vomiting
Arthritis
Hoarseness
Breathing difficulty

Physical Examination

Skin

Xanthemas which thicken around joints as the disease progresses
Lipogranulomas - small lumps of fat in the skin

Head

Swollen lymph nodes

Abdomen

Hepatosplenomegaly

Extremities

Swollen joints
Joint contractures (chronic shortening of muscles or tendons around joints)

Neurologic

Impaired intellectual ability

Treatment

There is no specific treatment for Farber disease.
Corticosteroids may be prescribed to relieve pain.
Bone marrow transplants may improve granulomas (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.

References

↑ Template:WhoNamedIt
↑ Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease". A.M.A. American journal of diseases of children. 84 (4): 499–500. PMID 12975849.
↑ Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006). "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family". J. Hum. Genet. 51 (9): 811–4. doi:10.1007/s10038-006-0019-z. PMID 16951918.

Template:Endocrine, nutritional and metabolic pathology

Template:WikiDoc Sources

[1] Template:WhoNamedIt

[2] Farber S (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease". A.M.A. American journal of diseases of children. 84 (4): 499–500. PMID 12975849.

[pmid16951918-3] Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M (2006). "Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family". J. Hum. Genet. 51 (9): 811–4. doi:10.1007/s10038-006-0019-z. PMID 16951918.

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