John Mitchell, MD, pediatric endocrinologist at Montreal Children’s Hospital and McGill University explains the pathophysiology, symptoms, and treatment options for Farber disease.
Farber disease is a rare lysosomal disorder due to mutations of the ASAH1 gene. This leads to low levels of acid ceramidase which in turn results in the accumulation of the lipid ceramide.
The three most common symptoms observed in children with Farber disease are joint pain, skin nodules, and a hoarse voice. As Dr Mitchell explains in this video, the hoarseness is due to nodules being present on the vocal cords.
In more severe forms of the disease, the accumulation of ceramide will ultimately be fatal. There is no approved treatment for Faber disease and current treatment strategies are largely focus on symptom management.
Farber disease is an extremely rare condition with a large variance in symptom severity among patients. Dr. Mitchell is leading a natural history study to better understand this condition. To learn more about this study, click here.
To learn more about this and other lysosomal diseases, visit or disease center.