Wilson's disease overview: Difference between revisions
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==Causes== | ==Causes== | ||
Wilson's disease is caused by ATP7B gene mutation and impairement of copper transportation. | |||
==Differentiating | ==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== | ==Epidemiology and Demographics== | ||
Revision as of 15:29, 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
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
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
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.