Disease of Farber

The disease of Farber (also called lipogranulomatose of Farber or deficit in céramidase) indicates a group of autosomic recessive disorders rare which cause an accumulation of Lipide S in the articulation S, the fabrics and the central Nervous system.

The disorder affects the two sexes as much.

This affection is due to a deficit of the enzymatic activity of the acid céramidase, person in charge of an intracellular accumulation of céramide.

The disease generally starts during the first childhood, but can appear later in the life. In the traditional form of the disease of Farber the neurological symptoms occur as of the first weeks of life with a delay of psychomotor Développement and disorders of the Déglutition. The Liver, the Heart and the Rein S can also be affected. The other signs being able to be observed are Vomissement S, an ignition of the Articulation S and Adénopathie S. With the progression of the disease appear an articular blocking (by tendineuse retraction ) and of the periarticular Xanthome S. A progressive respiratory insufficiency can require a Intubation trachéale.

The majority of the children reached of the disease die towards the two years age, in general of a lung disease. In one of the most severe forms of the disease, a liver and a hypertrophied Rate (hépato - Splénomégalie) can be diagnosed shortly after the birth. The affected children of this form of the disease usually die in the six months.

There does not exist any specific treatment for the disease of Farber. Corticostéroïde S can be prescribed to relieve the pains. Transplantations of osseous Moelle can improve the granulomes (small fabric ignitions) on the patients who present only little or not complications concerning the lungs or the nervous system. Among older patients, it is possible to remove or reduce the granulomes by surgical way.

Incidence

In 2007, one counts one 7th case in the world.

Source

External bonds

Orphanet

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