Wilson's Disease
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Rachel Rawson, Lexi Vessels, Aminat Abolade, Vidya Acharya, Kim Jackson, WikiSysop and Elaine Lonnemann
Definition/Description[edit | edit source]
Wilson’s disease, also known as hepatolenticular degeneration, is an autosomal recessive disorder that results from abnormal metabolism of copper. (Wu) It is caused from the mutation of the ATP7B gene, and leads to the accumulation of copper in key organs such as the liver, central nervous system, kidney, cornea and other tissues, resulting in impaired function. (Goodman/Wu) The deposition of copper begins immediately at birth, with symptoms usually presenting in late adolescence. Wilson's disease typically manifests into two common presentations: Liver disease or neurological symptoms due to the liver and the brain being major target organs in the accumulation of copper. Symptomatic adolescents will tend to experience more symptoms related to liver pathologies, while older adults will experience neurological signs and symptoms. (WHJ)
Prevalence[edit | edit source]
Wilson’s disease is a rare condition, affecting only one person in 30,000 in most populations. (WDA) (Autosomal recessive) The gene frequency for this disease has been found to be 56%, with a carrier frequency of 1 in every 90 people. (WJH) According to recent studies, an increase incidence of this gene mutation has been found in isolated populations like Costa Rica and Sardinia, an island off Italy.
Image
Characteristics/Clinical Presentation[edit | edit source]
add text here
Associated Co-morbidities[edit | edit source]
add text here
Medications[edit | edit source]
Pharmacological treatment of Wilson’s disease is based around the removal of excess copper from the body, as well preventing the accumulation of it in target organs. (WDA) Chelation therapy drugs, such as Penicillamine and Trientine are used to remove excess copper from the affected organs; they act as binding agents and are removed through urinary excretion. (WDA) Zinc salts are also used to block the intestinal absorption of copper, reducing its accumulation in the body. Zinc salts are shown to be very effective, and is an advantage over other pharmacological agents because of its lack of side effects.
It is recommended that patients who are asymptomatic should receive lower doses of zinc salts or chelators than patients who are symptomatic. Often times, symptomatic patients receive a combination of zinc salts and chelators.
D-Penicillamine:
Initial Dose: 250-500 mg/d with 250 mg increments every 4-7 days in 2-4 divided doses Maintenance Dose: 750-1000 mg/d in 2 doses a day Pediatric Dose: 20mg/kg per day in 2-3 doses daily; maintenance therapy should reduce to 25-30% of dose
Administer drug one hour before or two hours after a meal to avoid inhibition.
Adverse side effects are common and include fever, cutaneous eruptions, neutropenia, lymphadenopathy, and proteinuria
Trientine Dosage:
Initial Dose: 750-1500 mg/d in 2-3 divided doses Maintenance Dose: 750-1000 mg/d in 2-3 divided doses Pediatric Dose: 20mg/kg per day in 2-3 doses daily; maintenance therapy should reduce to 25-30% of dose
Adverse side effects include possible neurotoxicity, dyspepsia, anemia, muscle cramps, and dystonia
Zinc Dosage: Dose: 150 mg/d divided in 3 doses Pediatric dose: 75 mg/d divided in 3 doses
Adverse side effects are minimum and include gastric irritation, alcohol intolerance, headaches, excessive perspiration, and anemia
(WJH)
Compliance with pharmacological intervention poses a significant threat to management of Wilson's disease, especially in patients who are asymptomatic because there is failure to recognize the relationship between medication and the disease progression.
(Handbook)
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
add text here
Etiology/Causes[edit | edit source]
add text here
Systemic Involvement[edit | edit source]
add text here
Medical Management (current best evidence)[edit | edit source]
add text here
Physical Therapy Management (current best evidence)[edit | edit source]
add text here
Differential Diagnosis[edit | edit source]
add text here
Case Reports/ Case Studies[edit | edit source]
add links to case studies here (case studies should be added on new pages using the case study template)
Resources
[edit | edit source]
add appropriate resources here
Recent Related Research (from Pubmed)[edit | edit source]
see tutorial on Adding PubMed Feed
Extension:RSS -- Error: Not a valid URL: addfeedhere|charset=UTF-8|short|max=10
References[edit | edit source]
see adding references tutorial.
