Farber Disease Life Expectancy

Farber Disease Life Expectancy

Farber Disease have described by pediatrician doctor Sidney Farber in year 1957. This disease has an autosomal recessively inheritance. Lysosomal storage disorder due to acid ceramidase enzyme deficiency is the major cause to this disease also. The mutation is in the N-acylsphingosine amidohydrolase (ASAH1) gene on chromosome 8. In this disease, ceramide will accumulate in whole body organs and tissues.

Farber Disease symptoms:

  • Progressive joint deformation and contractures may seen. The most common affected joints are interphalangeal, wrist, elbow and ankle joints. Joint involvement cause to progressive joint stiffness, limitation by contractures and finally to immobilization and deformation of joints.
  • Subcutaneous nodules will always seen in these patients also.
  • Inflammatory and periarticular granulomas have reported also.
  • Hepatomegaly and splenomegaly may seen in these patients also.
  • Granuloma formation may also seen in respiratory tract. Because of it, hoarseness and interstitial pneumonia may develop. Finally, this poor situation will cause to death.
  • In some patients nervous system may affected. The most important finding is mental retardation. Mental retardation will limit all the treatments.


Farber Disease treatment:

Hematopoietic stem cell transplantation from healthy people will helpful but will never curative. It will only delay the death time. However, immunosuppressive treatment will necessary to prevent rejection before and after transplantation also. For preparing to transplantation is used busulfan and cyclosporine before. In the post transplant treatment for prevent from rejection, tacrolimus is better. All this treatment procedures are for patients that don’t have neurological involvement. If neurological involvement is started, the survival of the patient is poor for hematopoietic stem cell transplantation procedure. For this patients wheelchair should provided if necessary. Vital support and treatment support should always provided also. Supportive and symptomatic treatment should always provide also.

Farber Disease life expectancy:

If the symptoms starts at the first year of birth without neurological findings have seen also, the disease will progress fast and cause to death within 2-3 years of age. If the disease is mild form and progresses without neurological findings, the patient can live up to 6 to 7 years of age with hematopoietic stem cell transplantation and with appropriate treatment also.

To read about Maroteaux Lamy Syndrome Lifespan click this link

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