PATIENTS AND FAMILIES
If you or a loved one have been diagnosed or suspect you might have Farber disease and want to find out more about the disease, availability of diagnostic testing or participation in our clinical development program please contact us firstname.lastname@example.org and we will be sure to connect with you as soon as possible.
Definition of Farber disease
Farber disease, also known as Farber lipogranulomatosis, describes a progressive inherited metabolic disorder in which excess amounts of lipids (ceramide) build up to harmful levels in the cells of different organs and tissues causing damage and inflammation.
Farber disease is a rare metabolic disease with three hallmark symptoms that appear in most patients in childhood:
- joint disease (swollen or painful joints with impaired movement)
- inflammatory bumps or nodules under the skin
- a weak or hoarse voice
These symptoms can appear at any age and in any order. They can also vary in severity and in how quickly they progress, often making Farber disease difficult to diagnose. Most patients are initially misdiagnosed as having juvenile idiopathic arthritis (JIA) the most common type of inflammatory joint disease in children.