Diagnosis, Treament, Prognosis and Prevention of Farber Disease
A triad of subcutaneous nodules, joint and laryngeal involvement characterizes Farber disease. No specific treatment is currently available.
Diagnosis of Farber Disease
The occurrence of subcutaneous nodules, joint and laryngeal involvement as a triad verifies a diagnosis of Farber disease. These are the typical features. The activity of acid ceramidase enzyme in tissues can be used to confirm the diagnosis when the typical features are absent. Microscopic studies on biopsy specimens may reveal features typical to Farber disease. Techniques like chromatography or mass spectroscopy can be used to determine the accumulation of ceramide in tissues. Antenatal diagnosis is possible using cultured skin cells from the amniotic fluid to assay the acid ceramidase enzyme.
Treatment for Farber Disease
No specific treatment is currently available for Farber disease. Pain therapy, physical therapy, surgical correction of joint deformities and medications to relieve inflammation are employed. Management is basically supportive. Stem cell transplantation has been tried but met limited success. It may emerge as a promising treatment approach in the future.
Prognosis and Prevention of Farber disease
Farber disease can’t be cured completely. Children with serious nervous system involvement may die early in infancy. Others may survive up to the third or fourth decade of life with abnormalities. Many children die from lung disease by age two. Children born with the most severe form of the disease usually die within six months.
Antenatal diagnosis (diagnosis before birth) is possible using cultured skin cells from the amniotic fluid to assay the acid ceramidase enzyme.
