by What is Wilson’s Disease?
Wilson’s disease is a rare inherited genetic condition that causes excessive copper buildup in the body’s organs and tissues. It is caused by mutations in the ATP7B gene, which provides instructions for making a protein that moves copper from the liver into bile for excretion from the body. Without this protein working properly, copper builds up in the liver and other organs.
Signs and Symptoms
The signs and symptoms of Wilson’s Disease Treatment usually appear between the ages of 6 and 40. Initial signs often include fatigue, loss of appetite, abdominal pain, and vomiting. As the condition progresses, it can damage the liver, kidneys, brain and eyes. Some common symptoms seen in Wilson’s disease include:
– Liver problems: jaundice, nausea, vomiting, weakness and weight loss. Untreated, it can lead to permanent liver damage including liver failure or liver cancer.
– Neurological problems: tremors, poor coordination, slurred speech, muscle stiffness, abnormal eye movements. This reflects copper accumulation in the brain.
– Psychiatric problems: mood changes, anxiety, problems with memory and judgment.
– Kayser-Fleischer rings: brownish rings seen around the outer edges of the iris when viewed through a slit-lamp microscope. It reflects copper deposition in Descemet’s membrane behind the cornea.
Diagnosis
If Wilson’s disease is suspected based on symptoms and family history, tests are done to confirm the diagnosis. These include:
– Liver function tests: Elevated levels of copper, hepatic enzymes like ALT/AST indicate liver damage.
– Ceruloplasmin test: Low levels of this protein found in serum indicate impaired copper excretion.
– MRI or MRI of the liver: Detects any damage, fibrosis or cirrhosis.
– Genetic testing: Identifies mutations in the ATP7B gene.
– Slit-lamp eye exam: Reveals Kayser-Fleischer rings if present.
Wilson’s Disease Treatment and Management
Once diagnosed, treatment involves lifelong management to prevent further copper build-up and organ damage. The main goals of treatment are:
– Remove excess copper from the body
– Prevent additional copper absorption from the diet
– Protect organs from future copper toxicity
The primary treatments used are:
Chelating Medications: D-penicillamine or trientine are given to attach to and remove copper from the body through urine. Side effects can include nausea, rashes and joint pain.
Zinc supplements: Zinc supplements are also given to block copper absorption from the gut. They allow excretion of copper through bile.
Low-copper diet: Diet should be limited in copper-rich foods like shellfish, nuts and chocolate to prevent copper intake.
Liver transplantation: Considered for late-stage liver disease or if other treatments are unsuccessful in controlling symptoms and copper levels. It replaces the damaged organ.
Regular follow-up: Periodic monitoring of copper levels, liver function tests and symptoms under a hepatologist’s care is essential for life-long management.
Wilson’s Disease Treatment Success and Prognosis
With early diagnosis and lifelong adherence to medications and diet, Wilson’s disease can be successfully managed. Prognosis is excellent if treatment begins before significant liver scarring or neurological damage occurs. Even patients diagnosed at later stages see improvement with therapy. Periodic screening of family members enables early detection and better outcomes through prevention or early treatment. With strict compliance, patients can expect normal life expectancy.
Wilson’s disease is a treatable inherited condition requiring lifelong multi-pronged treatment and monitoring. Early diagnosis and compliant management successfully prevents organ damage and allows patients to live healthy, productive lives. Regular follow-ups with a specialist team are key to long-term success in managing this condition.
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*Note:
1.Source: Coherent Market Insights, Public sources, Desk research
2.We have leveraged AI tools to mine information and compile it
About Author - Alice Mutum
Alice Mutum is a seasoned senior content editor at Coherent Market Insights, leveraging extensive expertise gained from her previous role as a content writer. With seven years in content development, Alice masterfully employs SEO best practices and cutting-edge digital marketing strategies to craft high-ranking, impactful content. As an editor, she meticulously ensures flawless grammar and punctuation, precise data accuracy, and perfect alignment with audience needs in every research report. Alice's dedication to excellence and her strategic approach to content make her an invaluable asset in the world of market insights. LinkedIn
