Wilson's Disease - Symptoms, Causes, and Doctors- My Mediland

About- Wilson's disease also known as hepatolenticular degeneration, and progressive lenticular degeneration, is a rare inherited disorder that causes copper to accumulate in the vital organs including liver and brain

Symptoms-
Symptoms of copper accumulation in the liver:

Weakness and tiredness

Unintended weight loss

Nausea & vomiting

Lack of appetite

Itching

Jaundice

Edema

Abdominal pain and bloating

Spider angiomas, or visible branch-like blood vessels on the skin

Muscle cramps

Symptoms of copper accumulation in the brain-

Memory, speech, or vision impairment

Uncontrolled movements or muscle stiffness

Migraines

Drooling

Insomnia

Personality disorder

Depression and mood swings

Difficulties in daily activities

Symptoms of Copper accumulation in other organs-

Bluish discoloration in the nails

Kidney stones

Premature osteoporosis, or lack of bone density

Arthritis

Menstrual irregularities

Low blood pressure

Causes-
Wilson's disease is inherited and happens due to the mutation in the ATP7B gene, which codes for copper transportation,

Specialists to visit

Hepatologist

Gastroenterologist

Medical Geneticist

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References-
https://www.healthline.com
https://www.mayoclinic.org
https://en.wikipedia.org
https://www.wilsonsdisease.org/
https://www.niddk.nih.gov