Wilson`s Disease
Description
Wilson‘s disease is a rare genetic disorder that affects the body‘s ability to process copper. This essential mineral, vital for many bodily functions, can build up to toxic levels in the liver, brain, and other organs, leading to various health issues. While challenging, managing Wilson‘s disease is possible with proper diagnosis and treatment. This blog will delve into the intricacies of Wilson‘s disease, shedding light on its symptoms, causes, diagnosis, management, and how individuals can thrive with this condition.
Genes Involved
Wilson‘s disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein that pumps copper out of cells. When this gene is mutated, copper accumulates in the body, leading to the disease.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Wilson‘s disease is crucial for early diagnosis and intervention. These symptoms can vary depending on which organs are affected. Some common symptoms include:
- Liver problems: Fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, and swelling in the legs and feet.
- Neurological problems: Tremors, difficulty speaking, involuntary movements, changes in personality, and memory loss.
- Psychiatric problems: Depression, anxiety, psychosis, and behavioral changes.
- Eye problems: Kayser-Fleischer rings (brownish-yellow rings around the iris of the eye) and corneal degeneration.
- Other symptoms: Muscle weakness, bone pain, and kidney problems.
Causes
Wilson‘s disease is an inherited disorder. It is caused by a mutation in the ATP7B gene, which is responsible for transporting copper out of cells. If both parents carry the mutated gene, there is a 25% chance their child will inherit the disorder.
Inheritance/recurrence risk
Wilson‘s disease is an autosomal recessive disorder, meaning both parents must carry the mutated gene for their child to inherit it. If one parent carries the mutated gene, there is a 50% chance of passing it on to their child. If both parents carry the mutated gene, there is a 25% chance that their child will inherit two copies of the mutated gene and develop Wilson‘s disease, a 50% chance they will inherit one copy and be a carrier, and a 25% chance they will not inherit the mutated gene at all.
