Wilsons disease Yannier What is it Autosomal recessive

Wilson’s disease Yannier

What is it ? • Autosomal recessive disorder in which copper builds up in the tissues. • It affects about one in 30, 000 people. • The copper builds up in the brain, eyes and other organs. • All the extra copper leads to organ damage and possible death.

How people get it: • Disease caused by abnormal alteration to ATP 7 B gene. • For a person go get it they need one copy of the gene from each parent. • Most common in eastern Europeans, and southern Italians. • In pregnancy there’s is a 25% the baby might have the disease

• 1 in 4 chance that the child will have Wilson's disease. (25%) • 2 in 4 chance that the child will not have Wilson's disease, but will be a carrier. (50%) • 1 in 4 chance that the child will have normal genes. (25%)

Symptoms • Symptoms usually start appearing from 5 to 35 years old. • In the liver inflammation will start and you’ll get pain and vomiting. • Affects on the brain causes you have mood swings and difficult in motor skills

Diagnoses • A common tell is Kayser-Fleischer rings in the eyes. • Run test on the blood to measure a Protein that binds copper in the bloodstream. • Also on how your Liver and kidney are functioning • As a last resort they do a liver biopsy to see any excess copper

Rings Normal

Treatment • Life long medication to help control and remove excess copper. • To start any excess copper is removed and there diet is modified to include less copper. • Medication called penicillamine and trientine help remove copper and release it into the bloodstream. • Zinc treatment is another alternative that works by stopping absorbing copper from food.

Life with the disease • With treatment you can have a regular full length life • Without it you can expect to live a short painful life. • Although you might have the disease under control some of the symptoms are permanent once they have develop like those on the brain.