Have You Heard of Farber Disease?

Have you heard of Farber Disease? If not, you’re not alone. It’s often misdiagnosed as juvenile arthritis, though, so it’s definitely a condition to learn more about.

What is Farber Disease?

Farber disease is a very rare disease that has had less than 100 confirmed cases. Also called Acid Ceramidase Deficiency or Farber’s Lipogranulomatosis, Farber is a metabolic disorder. That means the body doesn’t break down or use lipids – AKA fats – the way it should.

Those lipids stack up around the body, especially around the joints. With swollen joints and hepatosplenomegaly, it’s no wonder this condition is mistaken for JA – especially SJIA.

Other symptoms may include:

Hoarse voice
Pain
Fever
Failure to thrive
Nodules or bumps under the skin
Central Nervous System issues
Respiratory issues
Inflammation
Swollen lymph nodes
Seizures
Vision issues
Diminished muscle tone
Developmental delay

Symptoms are generally, but not always, noticed in the first few weeks of life.

Misdiagnosis is a major issue

We already know misdiagnosis is a rampant issue within healthcare. In Farber Disease, doctors misdiagnose 70% of kids with JA. That means a longer road to an accurate diagnosis and proper treatment. To make it worse, there are several kinds of Farber Disease.