Wilson’s disease is a very rare genetic disorder inherited in an autosomal recessive pattern that can be passed on to the next generation from parents who carry one or both copies of the affected gene. It is estimated that 1 out of 40,000 people worldwide are affected by Wilson’s disease.
To develop Wilson’s disease, you need to inherit two copies of the defective gene, one from each parent. If you inherit only one copy of the defective gene, then you will be a carrier and pass on the gene to the next generation, but you will not develop the disease.
Usually, symptoms of Wilson’s disease develop between 12 and 23 years of age, and untreated people may have a life expectancy of 40 years. However, early diagnosis, followed by proper treatment, may increase the life span.
What is Wilson’s disease?
Wilson’s disease is caused by a defect in the ATP7B gene, which prevents the metabolization and elimination of copper from the body, potentially developing into a life-threatening condition.
Although your body needs a small amount of copper for certain bodily functions, an excess amount of this mineral is toxic and may lead to complications. The liver plays a major role in the metabolism of copper with excess copper transferred to the bile, which is later eliminated through stools.
- People with Wilson’s disease build-up copper deposits in the liver without eliminating it and develop complications such as liver failure and cirrhosis.
- As copper enters the circulatory system, it is distributed among other organs, and eventually, copper is deposited in the organs throughout the body.
- Although the accumulation of cooper deposits occurs from birth, symptoms related to the condition appear after several years of age.
What are the symptoms of Wilson’s disease?
Wilson’s disease affects various organs, resulting in various symptoms that may include:
- Copper deposits around the iris in the eye and forms a ring-like structure known as Kayser–Fleischer rings (a first noticeable symptom of Wilson’s disease)
- Low blood pressure
- Loss of appetite
- Weight loss
- Abdominal pain
- Easy bruising
- Reduced count of platelets and white blood cells
- Enlargement of the liver and spleen
- Jaundice (yellowing of the skin and eyes)
- Accumulation of fluid in the abdomen and legs
- Kidney stones
- Reduced bone density and osteoporosis
- Difficulty swallowing
- Slurred speech
- Slow and uncontrollable movements that are repetitive
- Muscle stiffness
- Loss of muscle tone
- Poor coordination
- Menstrual irregularities
- Mental problems such as psychosis or suicidal thoughts
How to diagnose Wilson’s disease
The diagnosis of Wilson’s disease is not done readily in the initial stages because the symptoms caused are correlated with many other medical conditions, especially with conditions that involve the liver and nerves.
Doctors diagnose Wilson’s disease by the following:
- Ocular examination to find Kayser–Fleischer rings around the iris
- Abdominal examination to check for the following:
- Fluid buildup
- Enlargement of the liver and spleen
- Testing for nervous disorders
- Genetic testing to detect defect gene
- Abnormal liver enzymes
- Copper levels in the blood
- Blood sugar levels
Doctors perform magnetic resonance imaging and computed tomography to detect any brain abnormalities. Although these findings do not help with the initial diagnosis of the disease, they will help confirm it and determine the current stage.
Doctors may perform a liver biopsy to determine the extent of copper deposition and possible liver damage.
Doctors conduct a procedure in which they extract a small piece of the liver tissue by using a needle. This procedure is performed under the influence of anesthesia. Doctors study the extracted liver tissue under a microscope to check for copper deposits.
What are the treatment options for Wilson’s disease?
Wilson’s disease is unpreventable because it is passed through genes from parents with no known cure. However, you may slow down the progression of the disease by early diagnosis and treatment of the symptoms.
Treatment options for Wilson’s disease include:
- Doctors may give you chelating agents such as penicillamine and trientine to remove excess copper from the body. However, these agents are to be given with caution, and monitoring is required because they may cause side effects such as fever, rash, and renal problems and may delay wound healing.
- People with Wilson’s disease may be given vitamin B6 supplements along with penicillamine, which may reduce the activity of vitamin B6 in the body.
- The chelating agents may worsen the symptoms in people with neurological symptoms.
- Zinc prevents the intestinal absorption of copper, so this is usually given as a maintenance treatment to prevent copper deposition in the body after treating people with chelating agents.
- Moreover, zinc is given to people with Wilson’s disease who did not develop any symptoms.
Health Solutions From Our Sponsors
Treatments for Wilson Disease: https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/wilson-disease/treatments.html
Wilson Disease: https://rarediseases.org/rare-diseases/wilson-disease/
Wilson Disease: https://www.cedars-sinai.org/health-library/diseases-and-conditions/w/wilson-disease.html
Top Life Expectancy of a Person With Wilson's Disease Related Articles
Can You Live Without a Liver?The liver is a vital organ regulating the levels of many substances in the body. It excretes a substance called bile. The bile helps in carrying away the waste from the liver. The blood from the digestive system (stomach and bowel) passes through the liver.
Digestive Disorders: Symptoms of Liver ProblemsBy the time a liver disease shows symptoms, it could already be advanced. Here are the signs to look for so you can stop the condition before it leads to liver failure.
Drug-Induced Liver DiseaseDrug-induced liver diseases are diseases of the liver that are caused by physician-prescribed medications, OTC medications, vitamins, hormones, herbs, illicit (recreational) drugs, and environmental toxins. Read about the signs and symptoms of drug-induced liver disease like hepatitis (inflammation of the liver cells), liver disease treatment, and types.
Family Health History: Genetics, DNA Testing and Your HealthWebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.
Nonalcoholic and Alcoholic Fatty Liver DiseaseYou can treat fatty liver disease with diet and exercise. Learn the signs and symptoms of fatty liver disease, whether it is alcoholic or nonalcoholic in origin. Find out what causes fatty liver disease, along with remedies and prevention tips.
Genetic DiseasesThe definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
11 Surprising Things Your Genes Say About YouExplore what role DNA plays in your health, love life, and more in this WebMD slideshow.
Liver QuizDo you know the symptoms of liver disease? What is hepatitis? Take this quiz to learn about your liver and how to keep it healthy.
How Do I Make My Liver Healthy Again?Your doctor may suggest lifestyle changes to improve your liver function such as, weight loss, healthy diet, lowering cholesterol, alcohol reduction, exercising regularly, and diabetes management.
Liver (Anatomy and Function)The liver is the largest gland and organ in the body. There are a variety of liver diseases caused by liver inflammation, scarring of the liver, infection of the liver, gallstones, cancer, toxins, genetic diseases, and blood flow problems. Symptoms of liver disease generally do not occur until the liver disease is advanced. Some symptoms of liver disease include jaundice, nausea and vomiting, easy bruising, bleeding excessively, fatigue, weakness, weight loss, shortness of breath, leg swelling, impotence, and confusion. Treatment of diseases of the liver depends on the cause.
Liver BiopsyLiver biopsy is a procedure used to remove a small piece of liver tissue for examination for signs of disease or damage to the liver. Preparation for liver biopsy includes discontinuing certain medications. The techniques used to perform liver biopsy include percutaneous liver biopsy, transvenous liver biopsy, and laparoscopic liver biopsy. Recovery from liver biopsy are generally one to two days. Certain risks are associated with liver biopsy.
Liver Blood TestsAn initial step in detecting liver damage is a simple blood test to determine the presence of certain liver enzymes in the blood. Under normal circumstances, these enzymes reside within the cells of the liver. But when the liver is injured, these enzymes are spilled into the blood stream, and can lead to diseases like fatty liver, type 2 diabetes, obesity, and hepatitis. Several medications also can increase liver enzyme test results.
Liver DiseaseLiver disease can be cause by a variety of things including infection (hepatitis), diseases, for example, gallstones, high cholesterol or triglycerides, blood flow obstruction to the liver, and toxins (medications and chemicals). Symptoms of liver disease depends upon the cause and may include nausea, vomiting, upper right abdominal pain, and jaundice. Treatment depends upon the cause of the liver disease.
Liver Disease QuizWhat is liver disease? Take the Liver Disease Quiz and test your knowledge about this organ and its function.
Liver PictureFront View of the Liver. The liver is a large, meaty organ that sits on the right side of the belly. See a picture of the Liver and learn more about the health topic.
What Is Liver Resection?Liver resection is a surgical procedure in which a portion of the liver is removed. The operation is generally performed to remove various types of tumors that are located in the liver. The goal of liver resection is to remove the tumor(s) and the surrounding liver tissue without leaving any tumor tissue behind.
What Are Signs That Your Liver Is Not Functioning Properly?Liver pain can be a sign that you have a serious health problem like cirrhosis or liver cancer. Find out more about what could be causing your liver pain and how to treat it. Patients may have worsening symptoms of chronic liver disease or cirrhosis, which often precedes the development of cancer of the liver.