Farber’s Lipogranulomatosis (Farber Disease)
Farber’s lipogranulomatosis is more commonly known as Farber disease; it is also termed as ceramidase deficiency.
This rare genetic condition starts to manifest within the first weeks of life. Unfortunately, the affected patients die within 6 months.
The symptoms include difficulties in swallowing and breathing, vomiting, swollen lymph nodes, arthritis, and hoarseness. Also, there is a chronic shortening of muscles or tendons and xanthomas which is a condition of having fatty growths under the skin. Affected patients may also have problems concerning their liver, heart, and kidneys.
Farber’s disease is caused by a lack of ceramidase which is an enzyme responsible for severing fatty acids from ceramides, a family of waxy lipid molecules. Hence, such deficiency causes fat accumulation, particularly at the joints, liver, throat, central nervous system, and tissues. Since this disease is very rare, there are only around 80 reported cases. Farber’s disease is an eponym for Sydney Farber, an American pediatric pathologist and the father of modern chemotherapy.