Wilson disease - Rare Medical News

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Disease Profile

Wilson disease

1-9 / 100 000

3,310-29,790

US Estimated

5,135-46,215

Europe Estimated

Age of onset

Childhood

ICD-10

E83.0

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]

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Hepatolenticular degeneration; WND; WD

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]

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

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.

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]

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

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.

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

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: [email protected]
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/

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

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Wilson disease. This website is maintained by the National Library of Medicine.
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.

References

Wilson Disease. National Institute of Diabetes and Digestive and Kidney Diseases. July 2014; https://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx#sec6.
Richard K Gilroy, MBBS, FRACP. Wilson Disease. Medscape Reference. May 2014; https://emedicine.medscape.com/article/183456-overview.
Wilson Disease. Genetics Home Reference. Jaunary 2014; https://ghr.nlm.nih.gov/condition/wilson-disease.
Karl Heinz Weiss, MD. Wilson Disease. GeneReviews. May 2013; https://www.ncbi.nlm.nih.gov/books/NBK1512/#wilson.Management.
Wilson Disease. NORD. March 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/26/viewAbstract.
NINDS Wilson Disease Information Page. National Institute of Neurological Disorders and Stroke. June 2012; https://www.ninds.nih.gov/disorders/wilsons/wilsons.htm.

Rare Medical News

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
Osteomalacia	Softening of the bones	0002758

Rare Medical News

Rare Medical News

Childhood

E83.0

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Cause

Diagnosis

Testing Resources

Treatment

FDA-Approved Treatments

Related diseases

Organizations

Organizations Supporting this Disease

Organizations Providing General Support

Learn more

Where to Start

In-Depth Information

References

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.