Wilson's disease overview: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
The copper is one of the essential elements for the human body. Copper must be absorbed and transported in order to function properly. Copeer is transported bound to metallothionein or carried by ATOX1 to the [[Golgi apparatus|trans-Golgi network]]. Impairment of copper incorportation in formation of ceruloplasmin will lead to increase the serum level of the copper. The increase of copper level will lead to accumulation of the excess copper in the liver and other organs. ATP7B gene mutation is found in the majority of the patients with Wilson's disease. | |||
==Causes== | ==Causes== | ||
Revision as of 20:55, 26 December 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Historical Perspective
Wilson's disease was first described by Dr. Samuel Alexander Kinnier Wilson where he described the pathological changes in the brain and liver in 1912. Many research studies revealed the correlation between ATP7B gene mutation and Wilson's disease. The first effective oral chelator was discovered by Dr. Walshe in 1956.
Classification
Wilson's disease is classified based on the symptomatic presentation into hepatic and neurologic Wilson's disease.
Pathophysiology
The copper is one of the essential elements for the human body. Copper must be absorbed and transported in order to function properly. Copeer is transported bound to metallothionein or carried by ATOX1 to the trans-Golgi network. Impairment of copper incorportation in formation of ceruloplasmin will lead to increase the serum level of the copper. The increase of copper level will lead to accumulation of the excess copper in the liver and other organs. ATP7B gene mutation is found in the majority of the patients with Wilson's disease.
Causes
Wilson's disease is caused by ATP7B gene mutation and impairement of copper transportation.
Differentiating Wilson's disease from Other Diseases
Wilson's disease must be differentiated from other diseases that cause jaundice like hemochromatosis, viral hepatitis, alcoholic hepatitis, drug induced hepatitis, and autoimmune hepatitis.
Epidemiology and Demographics
The prevalence of Wilson's disease is estimated to be 3 cases per 100,000 individuals worldwide. Wilson's disease affects individuals between 5 to 35 years old.
Risk Factors
Commpn risk factors of Wilson's disease include newborns of disease-carrier parents. Less common risk factors inlcude excess non-vegetarian diet.
Screening
There is insufficient evidence to recommend routine screening for Wilson's disease.
Natural History, Complications, and Prognosis
If left untreated, Wilson's disease will lead to death as the copper accumulation in the liver and brain will lead to cirrhosis and severe dystonia respectively. Common complications of Wilson's disease include hepatocellular carcinoma, renal failure, and persistent neurological manifestations. Prognosis of Wilson's disease is usually good in case of early detection and proper treatment.
Diagnosis
Diagnostic Criteria
History and Symptoms
Patients with Wilson's disease may remain asymptomatic until the copper deposits in the liver and brain mainly. Common hepatic symptoms include abdominal distension, abdominal pain, fatigue, bleeding tendency, and esophageal varices. Common neuropsychiatric symptoms include tremors, ataxia, dysarthria, and impulsiveness. Less common symptoms of wilson's disease include urolithiasis and hematuria.
Physical Examination
Patients with Wilson's disease usually appear tired. Physical examination of patients with Wilson's disease is usually remarkable for jaundice and easy bruising in the skin. Physical examination also is remarkable for Kayser Fleischer ring in the eyes as a result of the copper accumulation in the cornea. Common physical examination findings in the abdomen include abdominal tenderness , ascites, and spider angiomata. Common neurolopsychiatric signs include seizures, parkinsonism like signs, depression, and anxiety.
Laboratory Findings
Electrocardiogram
There are no EKG findings associated with Wilson's disease. However, if the heart is affected by Wilson's disease, EKG should be performed to exclude any ongoing arrhythmias.
X-ray
There are no x-ray findings associated with Wilson's disease.
Ultrasound
CT scan
CT scan can be used in detecting abnormalities in the brain but MRI is more sensetive in diagnosing Wilm's tumor associated with neurological manifestations.
MRI
There are no specific MRI findings associated with Wilson's disease especially in cases who present with only hepatic manifestations. However, it may show abnormalities in the basal ganglia in the patients who presented with neuropsychiatric manifestations.
Other Imaging Findings
There are no other imaging findings associated with Wilson's disease.
Other Diagnostic Studies
Liver biopsy is performed in suspected cases of Wilson's disease as it may show many histopathological features. Liver biopsy may show mild steatosis, hepatocellular necrosis, macronodular cirrhosis, and fulminant liver failure features as parenchymal collapse. Genetic testing is also recommended in Wilson's disease to obtain the family history of the disease and for early detection.