Farber disease

The Farber syndrome, also Farber 's disease, Crohn Farber, ceramidase deficiency or disseminated Lipogranulomatose called, is an extremely rare genetic lysosomal storage disease ( Thesaurismose ).

Genetics and Etiology

The Farber syndrome is inherited as an autosomal recessive trait. The affected ASAH gene is located on chromosome 8 locus p22 - p21.3. It encodes the enzyme acid ceramidase ( N = Acylsphingosinamidohydroxylase ASAH ). The ASAH gene has a length of 30 kb and contains 14 exons. In most cases, point mutations in the gene for ASAH Farber syndrome.

The mutations cause a lack of activity of acid ceramidase. The acid ceramidase is an enzyme of the type of lysosomal hydrolase that catalyzes the cleavage of ceramide in the sphingosine and fatty acids. The genetic defect caused by the deficiency of the enzyme activity leads to an intracellular storage of ceramide.

The disease can manifest very differently depending on the patient and the degree of activity defect. So typical of the Farber syndrome symptoms may already during infancy or even occur after puberty.

Symptoms and diagnosis

The clinical course of Farber 's disease can be very different. Symptoms occur in the affected patients are most common, contractures of joints, periarticular subcutaneous nodules, short stature ( Hyposomie ), anomalies of the larynx ( laryngomalacia ) and corneal clouding. Occasionally, a magnification of the liver and spleen is observed ( hepatosplenomegaly ).

The diagnosis can be quickly and safely - even prenatally - provide a measurement of the ceramidase activity.

Therapy

An effective curative therapy is currently not possible. Treatment is usually symptomatic with analgesics and corticosteroids. In case of strong deformations and the Plastic surgery can be used.

First description

The Farber syndrome was in 1952 by the American pathologist Sidney Farber ( 1903-1973 ) first described. He is the namesake for the disease.