Rare Endocrinology News

5 Facts you should know about

Wilson disease

fivefacts-dark.svg

1

Wilson disease is a rare, autosomal recessive genetic disorder that interferes with the excretion of extra copper in your system

2

It was first described in 1854 by a German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson

3

Excessive copper builds up in different tissues such as liver, brain and eyes causing organ dysfunction

4

Diagnosis is often tricky and requires assessment of serum and urinary copper levels. So far, no curative treatment is available

5

Complications can be prevented by managing serum copper levels by a variety of chelation agents

Rare Endocrinology News

Advertisement