Definition

Noun: A rare, inherited genetic disorder that causes the body to retain excessive amounts of copper. The copper accumulates first in the liver and later in other organs, particularly the brain, corneas, and kidneys, leading to progressive and potentially fatal organ damage if untreated.

Usage

This term is used specifically in medical contexts to name the disease. * Early diagnosis of Wilson's disease is crucial for effective treatment. * The neurologist considered Wilson's disease as a possible cause for the patient's movement disorder.

Advanced Usage

• "to have Wilson's disease": to be diagnosed with or suffer from the condition.
  • After genetic testing, it was confirmed that he has Wilson's disease.
• "diagnosis/treatment of Wilson's disease": referring to the medical processes associated with the disorder.
  • The treatment of Wilson's disease typically involves medications that bind and remove excess copper.

Variants and Related Words

• Hepatolenticular Degeneration: This is the formal, alternative medical name for Wilson's disease, referring to the degeneration of the liver () and the lenticular nucleus of the brain.
• Copper-transporting ATPase (ATP7B): The specific protein that is defective in Wilson's disease.

Synonyms

• Hepatolenticular Degeneration (formal synonym)

Related Phrases

• Kayser-Fleischer rings: A physical sign often associated with advanced Wilson's disease, characterized by copper deposits forming a golden-brown or greenish ring in the cornea of the eye.
  • The presence of Kayser-Fleischer rings strongly supports the diagnosis of Wilson's disease.
• Copper chelation therapy: A primary treatment method for Wilson's disease, using drugs (chelating agents) to bind copper and promote its excretion from the body.

Noun

1. a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain