Abeer Fatima4 months ago

Wilson Disease and Kayser Fleischer Ring

Wilson Disease is a rare autosomal recessive genetic disorder which results in excessive storage of copper in body, particularly in liver, eyes, and brain. If left untreated, it is associated with life-threatening complications, such as liver failure, and CNS impairment. Wilson disease is a progressive disorder, where symptoms usually arise around 6th year of life. The signs and symptoms may vary; most common are jaundice, swelling of legs, ascites, esophageal varices, and fatigue. Neurological disease manifests as tremors, muscle rigidity, and confusion. In eyes, the accumulation of copper in cornea presents as darkened ring called Kayser Fleischer Ring. The Kayser Fleischer rings are normally present in individuals with neurological disease. The goal of management of Wilson Disease is to reduce levels of copper in blood and prevent rise of blood copper levels in future. Source Wilson Disease https://rarediseases.org/rare-diseases/wilson-disease/#:~:text=Wilson%20disease%20is%20a%20rare,nervous%20system%20dysfunction%2C%20and%20death. Image via https://www.nejm.org/doi/full/10.1056/nejmicm1101534