Wilson's Disease Update

Abstract

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with the liver and brain being primarily affected. WD being a treatable disorder, early diagnosis and proper management may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in the Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases, with a high rate of consanguinity. Up to two-third of the Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering back to pre-morbid functionality with adequate therapy.

Effects of Sodium Arsenite on the Myocardial Differentiation in Mouse Embryonic Bodies

“…On the other hand, the mechanism was not established and rarely reported in clinical treatment [ 52 ]. A recent study showed Wilson’s disease-related treatment [ 53 , 54 ] and lead poisoning recovery [ 55 ]. Interestingly, this study showed that DPA preserved the beating of EBs ( Figure 4 A) but failed to restore the impairment at the morphology ( Figure 4 B) and gene level ( Figure 5 ).…”

Wilson’s disease: a review of clinical guidelines, literature and a case report

“…Еще одной страной с высоким числом больных считают Индию. Среди расстройств гепатобилиарного тракта в Северной Индии БВ составляет 7,6% [12]. Связывают данный факт с относительной изоляцией людей на островах и с высокими показателями смешанных браков.…”

Rare tremors and tremors occurring in other neurological disorders

“…Approximately 10% of patients with WD have a psychiatric presentation [116] ranging from a decline in school performance to an affective disorder, personality change, irritability, psychosis and others; in such patients, the diagnosis of WD may not be considered. In addition to hepatic and neuropsychiatric manifestations, there is a long list of other systemic effects of WD affecting the skeleton, heart, RBCs (hemolytic anemia), kidneys and skin [117].…”

“…The midbrain "face of the giant panda" was present in 12%, and less commonly was central pontine myelinolysis and the bright claustrum sign. The pontine equivalent of the face of the giant panda is the "face of the miniature panda" [117]. When the diagnosis remains in question, a liver biopsy with measurement of copper can be performed.…”