Reducing Time to Treatment and Care for Farber Disease: How Do We Achieve Our Goals?
b"Guest: Paul Harmatz, MD
\\n\\n Guest: John Mitchell, MD, MSc
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Farber disease is a lysosomal storage disorder characterized by a deficiency of the acid ceramidase enzyme. Abnormal accumulation of ceramide leads to macrophage-driven inflammation and multiple organ system pathologies, impacting bone, cartilage, the immune system, the central nervous system (CNS), lungs, and other organs. It is a progressive disease with profound morbidity and often premature death. Early recognition of core symptoms of Farber disease is necessary for accurate referral and treatment. This program provides an educational framework to shorten delays in diagnosis, and discusses new approaches that can ultimately impact a patient's long-term outcome.
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