Wilson's Disease
Also known as: Wilson Disease, Hepatolenticular Degeneration
Wilson's disease is a rare inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. Most people with Wilson's disease are diagnosed between ages 5 and 35, but it can affect people of all ages.
Wilson's disease happens when the body can't get rid of copper properly, so copper builds up in the liver and brain. This can make people very sick, but taking medicine every day can remove the extra copper and help people live normal, healthy lives.
Signs & Symptoms
- Fatigue and weakness
- Yellowing of skin (jaundice)
- Abdominal swelling
- Tremors
- Difficulty walking and speaking
- Personality changes
- Depression and anxiety
- Kayser-Fleischer rings in eyes
- Drooling
- Muscle stiffness
Treatment Options
D-penicillamine
HIGHLY EFFECTIVEApproved 1956Trientine (Syprine)
HIGHLY EFFECTIVEApproved 1985Zinc acetate (Galzin)
HIGHLY EFFECTIVEApproved 1997Liver transplantation
CURATIVEGene therapy
EXPERIMENTALDiagnosis
- Serum ceruloplasmin level
- 24-hour urine copper
- Slit-lamp eye examination for Kayser-Fleischer rings
- Liver biopsy with copper quantification
- Genetic testing for ATP7B mutations
- MRI brain imaging
History
Wilson's disease was first described by Samuel Alexander Kinnier Wilson in 1912. The genetic basis (ATP7B gene) was identified in 1993. The condition became one of the first genetic diseases to have effective medical treatment, with D-penicillamine introduced in 1956 by John Walshe.
Recent Breakthroughs
AAV gene therapy trials initiated
First-in-human gene therapy trials using AAV vectors to deliver functional ATP7B copies show early promise.
New oral chelator development
Novel chelating agents with improved side effect profiles enter Phase II trials.