Wilson’s Disease
Description
Wilson’s disease is a rare genetic disorder in which copper accumulates in the liver, brain, and other organs, leading to neurological and liver damage. It is caused by mutations in the ATP7B gene, which disrupts the body's ability to eliminate excess copper. Symptoms include: Liver damage (jaundice, fatigue, swelling, cirrhosis), Neurological issues (tremors, muscle stiffness, speech difficulties), Psychiatric symptoms (depression, anxiety, personality changes), and Kayser-Fleischer rings (copper deposits in the eyes). Doctors diagnose Wilson’s disease through blood and urine copper tests, liver biopsy, and genetic testing. Treatment includes lifelong copper-chelating medications (penicillamine, trientine) and zinc supplements to prevent copper absorption. Early treatment can prevent serious complications.