Farber disease is an extremely rare genetic disorder first described by Farber in 1957. It is also known as Farber's lipogranulomatosis, ceramidase deficiency, fibrocytic dysmucopolysaccharidosis and lipogranulomatosis. It is characterised by the deficiency of ceramidase, an enzyme that normally breaks down fatty material in our body’s cells.
Farber disease is a genetic disease that arises due to a mutation in the ASAH1 gene responsible for making an enzyme called ceramidase. This leads to an increased accumulation of ceramide, a lipid molecule normally digested by ceramidase, in several organs and tissues. Abnormal accumulation leads to the clinical features of the disease. The severity and the extent of organ involvement may vary from person to person.
The disease passes down through families in an autosomal recessive pattern, i.e. two copies of the abnormal gene must be present for the disease to develop.
Joints, liver, throat, tissues and central nervous system are affected. The usual onset of the disease is before the age of one year.
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. No specific treatment is available as yet.
Latest Publication and Research on Farber diseaseMulticenter Phase II Study of Tivozanib (AV-951) and Everolimus (RAD001) for Patients With Refractory, Metastatic Colorectal Cancer. - Published by PubMed
CD38 and CD157: A long journey from activation markers to multifunctional molecules. - Published by PubMed
Spruelike enteropathy associated with olmesartan: an unusual case of severe diarrhea. - Published by PubMed
Multi-drug inhibition of the HER pathway in metastatic colorectal cancer: Results of a phase I study of pertuzumab plus cetuximab in cetuximab-refractory patients. - Published by PubMed
SF3B1 mutations in chronic lymphocytic leukemia. - Published by PubMed