posted on Jan, 1 2015 @ 11:12 PM
I hope everyone who reads this post has an amazing New Year and is well onto recovery from their hangovers. Lol. Just kidding, so I just wanted to
introduce myself briefly. I have just finished medical school a month ago and would like to give back to the community. I will be doing a Disease of
The Week (DoTW) every week to get everyone informed about certain conditions I believe are worth discussion. I graduated American University of the
Carribbean (AUC) School of Medicine on the island of St. Maarten, and I am here to share some wonderful pieces of medical knowledge with you all. By
no means should you read my posts and substitute it as medical advice, however, I am here to help clarify any questions or concerns you all might
have. So here it goes. My resource that I will be picking is Step Up to Medicine, which is an excellent book that I used during medical school to
learn the various pathophysiology of diseases.
Wilson's disease is a genetic disease that interferes with the copper metabolism in your bodies. Copper is usually secreted by your liver, however,
in patients who have Wilson's disease, there is a deficiency in a serum protein known as ceruloplasmin, which is required for adequate copper
excretion. Since the body cannot get rid of this excess copper, it continuously builds up in your hepatocytes, which are your liver cells. Once these
cells die, they leak into the blood and this copper goes to different organs in your body, such as your brain, your eyes, and kidneys.
Symptoms are a result of the copper that accumulates in various organs. Copper has a tendency to deposit in the basal ganglia in the brain, which is a
region that controls bodily movements. Patients are generally between the ages of 5 to 35 and develop different manifestations of symptoms, such as
depression, psychiatric disturbances, tremors, drooling, and chorea (involuntary movements).
To make the diagnosis, we need two things, we check if there is any presence of liver disease by checking specific liver enzymes, known as AST and
ALT. If they are elevated, it tells us if the liver is damaged. A liver biopsy is required to make the diagnosis, where we tap into the liver and send
it to the lab.
Chelating agents, such as D-penicillamine, which binds to the copper and removes it entirely. Zinc has also been shown to be helpful as well in
preventing dietary copper uptake. Eventually, if the liver is not salvageable, a liver transplant is ultimately life-saving.
Stay tuned for more!