The Pulse | Monday, March 4, 2019

Word of the Week: Wilson's Disease

This week we are highlighting “Wilson's Disease” as the Word of the Week. As always, all of the terms and definitions are sourced from our very own SGNA GI/Endoscopy Nursing Review Course Certification Study Manual, 3rd Edition (2016).

Wilson's Disease is named after the American-born British neurologist, Dr. Samuel Alexander Kinnier Wilson, who in 1912 composed his doctoral thesis on the pathologic findings of hepatolenticular degeneration. It was first described in 1854 by Friedrich Theodor von Frerichs. Wilson's disease is a rare autosomal-recessive disorder, characterized by defective excretion of copper into bile, causing tissue necrosis, hepatic disease and potentially failure.

Signs/Symptoms: present at birth, but signs and symptoms don't appear until copper builds up in the brain, liver or other organs; 50% of all patients have symptoms before age 15.

• Fatigue
• Anorexia
• Abdominal pain
• Jaundice
• Golden brown eye discoloration
• Lower leg edema
• Ascites
• Problems with speech and/or swallowing
• Physical coordination
• Uncontrolled movements
• Muscle stiffness

Diagnosis:

• LFTs
• Ceruloplasmin (check levels of protein that binds copper in the blood)
• Serum copper
• 24 hour urine for copper
• Eye exam
• Liver biopsy
• Genetic testing

Treatment: requires lifelong therapy with medications such as chelating agents (medications that remove excess copper from blood)

1. Penicillamine (Cuprimine, Depen)
2. Trientine (Suprine)

Zinc acetate (Galzin), which prevents the body from absorbing copper from the food consumed.

• Liver transplant may be necessary