Farber disease
Farber disease is a rare genetic disorder caused by a deficiency of the enzyme acid ceramidase. This enzyme is essential for breaking down certain fats in the body. Without it, harmful substances accumulate, leading to various health issues, including joint pain, respiratory problems, and skin lesions.
Symptoms of Farber disease typically appear in infancy or early childhood and can vary in severity. Patients may experience swelling in the joints, difficulty breathing, and a hoarse voice. Early diagnosis and management are crucial, as the disease can significantly impact quality of life and overall health.