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Understanding Wilson's Disease: A Comprehensive Overview

Wilson's disease, also known as hepatolenticular degeneration, is a genetic disorder affecting copper metabolism in the liver and brain. This autosomal recessive condition is caused by mutations in the WD gene on chromosome 13q14.3. The accumulation of copper can lead to liver cirrhosis and basal ganglia dysfunction. Symptoms range from hepatic manifestations to neurological and psychiatric abnormalities. Diagnosis involves serum ceruloplasmin and copper levels, genetic screening, and imaging studies. Treatment includes medications like penicillamine and trientine to chelate copper and promote excretion. Early detection and management are crucial for patient outcomes.

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Understanding Wilson's Disease: A Comprehensive Overview

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  1. wilsons disease By: Brittni McClellan

  2. Wilsons disease - description • Description: • Hepatolenticular Degeneration • Disorder of copper metabolism affecting the liver and brain. • Genetics: • Autosomal Recessive • WD Gene (ATP7B) • Chromosome 13q14.3 – ATPase • Protein facilitates biliary excretion of excess copper and incorporates copper into apo-ceruloplasmin for transport. • Heterozygotes: Asymptomatic

  3. Wilsons disease - Pathophysiology • Loss of ATP7b  Impaired Biliary Copper Excretion and Impaired Ceruloplasmin Biosynthesis • Accumulation: • 1st: Liver (Cirrhosis) • 2nd: Brain (Basal Ganglia)  Impaired Motor Control

  4. wilsons disease – H&P • Patient History: • Hepatic:: • Asymptomatic Hepatomegaly • Elevated Transaminases • Chronic Hepatitis • Fulminant Hepatic Failure • Neurologic: Rate Before Age 10 • Behavioral Change, Decline in School Performance • Poor Hand-Eye Coordination • Motor Abnormalities: Dystonia, Tremors, Dysphagia • Psychiatric: • Depression, Anxiety, Psychosis, OCD • Other: • Abdominal Pain, Nausea, Anorexia, Fatigue

  5. Wilson’s disease – H&P Physical Exam: • Ophthalmologic: • Kayser-Fleischer Rings: Copper deposits on Descemet Membrane of Cornea • Visualize with: Slit Lamp • Cardiovascular: • Cardiomyopathy, Dysrhythmia, CHF • Abdominal: • Hepatomegaly • Ascites • Splenomegaly • Skin: • Jaundice • Bleeding Diathesis from Liver Disease • Edema • Neurologic: • Movement Disorders • Neurologic Deficits

  6. wilsons disease - Diagnosis Diagnosis: • Serum Ceruloplasmin: • Low • Serum Copper: Low (<80) • Increased if in Acute Fulminant Liver Failure (Sudden Release of Stores) • Urinary Copper Excretion: • Reflects Unbound Copper in Blood • High Levels (>100/24hours) • Other: • Elevated Aminotransferase Levels • Genetic Screening

  7. wilsons disease - imaging Diagnosis: • Imaging: • Abdominal ultrasound for liver size and pathology • MRI (Brain): • Basal Ganglia Focus • “Face of the giant panda” sign that is characteristic of Wilson disease (red nuclei, substantia nigra, tegmentum) • Biopsy

  8. wilsons disease – treatment • Medication • Penicillamine: • Copper Chelatior • Promoted Renal Excretion • Induces Metallothionein  Interferes with Collagen Cross Linking/Immunosuppressant • Must give with Pyridoxine (Vitamin B6) • Trientine: • DRUG OF CHOICE • Copper Chelator • Promotes Renal Excretion • Fewer Side Effects than Penicillamine • Must give with Zinc • Interferes with Absorption from GI Tract • Also Chelates Iron (Do not give Supplemental Fe)

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