Wilson disease

Title

Other Names:

Hepatolenticular degeneration; WND; WD

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Kidney and Urinary Diseases; Metabolic disorders; Nervous System Diseases; Newborn Screening See More

Summary Summary

Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances.^[1]^[2] It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner.^[3]^[4] Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.^[1]^[4]

Last updated: 2/5/2015

Symptoms Symptoms

Wilson disease can affect many different systems of the body. Affected people often develop signs and symptoms of chronic liver disease in their teenaged years or early twenties. These features may include jaundice; abnormal fluid retention which can lead to swelling of the legs and/or abdomen; weight loss; nausea and vomiting; and/or fatigue. Unfortunately, some people may not experience any signs until they suddenly develop acute liver failure.^[5]^[1]^[2]

Affected people often experience a variety of neurologic (central nervous system-related) signs and symptoms, as well. Neurologic features often develop after the liver has retained a significant amount of copper; however, they have been seen in people with little to no liver damage. These symptoms may include tremors; muscle stiffness; and problems with speech, swallowing and/or physical coordination. Almost all people with neurologic symptoms have Kayser-Fleisher rings - a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist's slit lamp.^[5]^[1]^[2]

About a third of those with Wilson disease will also experience psychiatric (mental health-related) symptoms such as abrupt personality changes, depression accompanied by suicidal thoughts, anxiety, and/or psychosis.^[5]^[1]^[2]

Other signs and symptoms may include:^[5]^[1]^[2]

Menstrual period irregularities, increased risk of miscarriage and infertility in women
Anemia
Easy bruising and prolonged bleeding
Kidney stones
Early-onset arthritis
Osteoporosis

Last updated: 2/5/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of the hand	Abnormal hands Hand anomalies Hand deformities [ more ]	0001155
Abnormality of the menstrual cycle		0000140
Acute hepatic failure	Acute liver failure	0006554
Acute hepatitis	Acute liver inflammation	0200119
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Anemia	Low number of red blood cells or hemoglobin	0001903
Arthralgia	Joint pain	0002829
Arthritis	Joint inflammation	0001369
Back pain		0003418
Bone pain		0002653
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Clumsiness		0002312
Depressivity	Depression	0000716
Difficulty walking	Difficulty in walking	0002355
Dysarthria	Difficulty articulating speech	0001260
Elevated hepatic transaminase	High liver enzymes	0002910
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hepatomegaly	Enlarged liver	0002240
Hypersexuality	Sex addiction	0030214
Increased body weight		0004324
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Joint swelling		0001386
Kayser-Fleischer ring		0200032
Pathologic fracture	Spontaneous fracture	0002756
Proximal muscle weakness in lower limbs		0008994
Pruritus	Itching Itchy skin Skin itching [ more ]	0000989
Splenomegaly	Increased spleen size	0001744
Thrombocytopenia	Low platelet count	0001873
Weight loss		0001824
5%-29% of people have these symptoms
Hepatocellular carcinoma		0001402
Polyneuropathy	Peripheral nerve disease	0001271
Percent of people who have these symptoms is not available through HPO
Aminoaciduria	High urine amino acid levels Increased levels of animo acids in urine [ more ]	0003355
Atypical or prolonged hepatitis	Atypical or prolonged liver inflammation	0200122
Autosomal recessive inheritance		0000007
Chondrocalcinosis	Calcium deposits in joints	0000934
Coma		0001259
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Drooling	Dribbling	0002307
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Dystonia		0001332
Esophageal varix	Enlarged vein in esophagus	0002040
Glycosuria	Glucose in urine	0003076
Hemolytic anemia		0001878
Hepatic failure	Liver failure	0001399
High nonceruloplasmin-bound serum copper		0010838
Hypercalciuria	Elevated urine calcium levels	0002150
Hyperphosphaturia	High urine phosphate levels	0003109
Hypoparathyroidism	Decreased parathyroid hormone secretion	0000829
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Mixed demyelinating and axonal polyneuropathy		0007327
Nephrolithiasis	Kidney stones	0000787
Osteoarthritis	Degenerative joint disease	0002758
Osteomalacia	Softening of the bones	0002749
Osteoporosis		0000939
Personality changes	Personality change	0000751
Poor motor coordination		0002275
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Renal tubular dysfunction	Abnormal function of filtrating structures in kidney	0000124
Tremor	Tremors	0001337

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Wilson disease is caused by changes (mutations) in the ATP7B gene. This gene encodes a protein that plays an important role in the transport of copper from the liver to the rest of the body. It also helps remove excess copper from the body. Mutations in the ATP7B gene prevent this protein from working properly, which can lead to an accumulation of copper in the body. Because high levels of copper are toxic, this buildup can damage tissues and organs and cause the many signs and symptoms of Wilson disease.^[3]

Last updated: 2/5/2015

Inheritance Inheritance

Wilson disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.^[3]

Last updated: 2/5/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary.^[5]^[1]^[2]

For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.

Last updated: 2/5/2014

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Zinc acetate (Brand name: Galzin) - Manufactured by Lemmon Company
FDA-approved indication: For maintenance treatment of patients with Wilson's disease who have been initially treated with a chelating agent.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Trientine HCl (Brand name: Syprine ) - Manufactured by Merck Sharp & Dohme Research
FDA-approved indication: Treatment of patients with Wilson's disease who are intolerant, or inadequately responsive to penicillamine.
National Library of Medicine Drug Information Portal

Prognosis Prognosis

The long-term outlook (prognosis) for people with Wilson disease varies and largely depends on timely diagnosis and treatment. If the condition is detected early and treated appropriately, people with Wilson disease can usually enjoy normal health and a normal lifespan. Unfortunately, untreated Wilson disease is associated with severe brain damage, liver failure, and death.^[6]

Last updated: 2/5/2014

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Wilson disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Wilson Disease Association
1732 First Avenue
#20043
New York, NY 10128
Toll-free: 866-961-0533
Telephone: 414-961-0533
E-mail: info@wilsonsdisease.org
Website: https://www.wilsonsdisease.org/

Organizations Providing General Support

American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Wilson disease. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) provides information on this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Wilson disease. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have been diagnosed with Wilson disease. What are the long-term effects of this disease? Will I need to be on medication for the rest of my life? What are the chances that my children will have Wilson disease? See answer

Have a question? Contact a GARD Information Specialist.