
Chronic Gaucher disease
Chronic Gaucher disease is a genetic disorder where the body lacks an enzyme called glucocerebrosidase. This enzyme is essential for breaking down a fat substance called glucocerebroside. Without enough enzyme, this fat builds up mainly in the liver, spleen, bone marrow, and sometimes other organs. Over time, it can cause symptoms like enlarged organs, bone pain, anemia, and fatigue. The disease progresses slowly, and treatment often involves enzyme replacement therapy to reduce fat buildup and manage symptoms. It is inherited, meaning it runs in families, and requires ongoing medical care.