Essential Case Report Study on Wilson Disease

Abstract

Impaired copper metabolism is the hallmark of Wilson's disease (WD), which is caused by a faulty ATP7B protein product. Its clinical effects range from asymptomatic states to fulminant hepatic failure, chronic liver disease with or without cirrhosis, and neurological and mental symptoms. To avoid missing cases of WD, particularly less florid patients with only mild transaminase elevations or limited neuropsychiatric involvement, a high degree of suspicion is warranted.  It is required to screen the first and second-degree relatives of index cases, and treatment must start as soon as a diagnosis is made. Chelators like D-penicillamine and trientine are used as treatment options, and zinc salts act as methallothionein inducers, which promote a negative copper balance and a decrease in free plasmatic copper. Research is sparse in this area because it is an orphan disease; particularly in relation to therapeutic approaches that improve patient compliance and may eventually also undo existing damage. About 50% of WD patients have liver illness upon presentation. Acute liver failure, cirrhosis, asymptomatic abnormal liver tests, and chronic hepatitis all have different liver presentations. Similar to the histology, there are various patterns in acute hepatitis with submassive or massive necrosis, steatosis or steatohepatitis, chronic hepatitis, and mild nonspecific alterations. These are all general and not just for WD. Special stains for copper and copper-associated proteins, as well as copper content in liver tissue, are aids to the histologic diagnosis.