It’s Arthritis Awareness Month (yay!) … so I want to bring awareness to a very rare disease that often mimics Juvenile Idiopathic Arthritis.
This illness is called Farber Disease (a.k.a. Farber’s Disease, Farber’s lipogranulomatosis, ceramidase deficiency, Fibrocytic dysmucopolysaccharidosis, and Lipogranulomatosis.)
Currently there are only 80 diagnosed, confirmed cases of Farber Disease worldwide! However, there may be more patients out there who live with Farber’s Disease and don’t even know it. This is because it is often misdiagnosed as Juvenile Rheumatoid Arthritis or Systemic Juvenile Idiopathic Arthritis.
Now, most kids who are diagnosed with juvenile arthritis DO in fact have JIA/JA/JRA/SJIA and NOT Farber Disease, as I discuss here.
However, it is important to be aware of other illnesses out there that look and act like rheumatic or autoimmune diseases … but aren’t. This is important because misdiagnoses can lead to many years of improper treatment which can be costly, dangerous, and ineffective.
Hallmarks of Farber Disease include: swollen joints, joint pain, joint deformity, joint contracture, nodules, and a hoarse voice. Genetic and biomarker testing is needed to confirm or rule out Farber Disease. About 70% of patients who have Farber are misdiagnosed with pediatric rheumatologic conditions such as juvenile arthritis.
Farber disease has its onset in childhood and is a very rare metabolic disorder, but one worth knowing about if you or your child were diagnosed with juvenile arthritis but seeing no improvement. (It is worth noting that juvenile idiopathic arthritis is autoimmune in nature, not metabolic, like Farber’s.)
The National Organization for Rare Disorders website talks more about it, here.
This is a sponsored post in collaboration with Clara Health.