Wilson's disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces protean clinical manifestations that may include hepatic, neurological, psychiatric, ophthalmological, and other derangements. Genetic testing is impractical because of the multitude of mutations that have been identified, so accurate diagnosis relies on judicious use of a battery of laboratory and other diagnostic tests. Lifelong palliative treatment with a growing stable of medications, or with liver transplantation if needed, can successfully ameliorate or prevent the progressive deterioration and eventual death that would otherwise inevitably ensue. This article discusses the epidemiology, genetics, pathophysiology, clinical features, diagnostic testing, and treatment of Wilson's disease.

Wilson's Disease.

Wilson's disease is an autosomal recessive disorder of copper metabolism The culprit gene is ATP7B The worldwide prevalence is about 1 in 30,000, which may vary by population Higher prevalence rates were reported using more sensitive screening techniques and pilot population screening Typical presentations include neuropsychiatric and hepatic dysfunction, whereas atypical presentations are protean Diagnosis relies on a high clinical suspicion, typical neurological symptoms, presence of Kayser-Fleischer rings, and reduced serum ceruloplasmin concentration The conventional value of < 020 g/l is not a universal diagnostic value Age of the subjects and analytical variations should be considered when interpreting these levels Patients with inconclusive findings require further investigations such as 24 h urinary free-copper excretion, penicillamine challenge test, liver copper measurement, and detection of gene mutations Direct molecular diagnosis remains the most decisive tool Other tests such as non-ceruloplasmin-bound copper are unreliable Potential pitfalls and limitations of these diagnostic markers are critically reviewed in this paper The mainstays of therapy are trientine, penicillamine, and/or zinc Liver transplantation is lifesaving for those with advanced disease Ceruloplasmin oxidase activity and serum free-copper concentration should be monitored in patients on long-term de-coppering therapy to prevent iatrogenic copper deficiency

Diagnosis of Wilson's Disease: A Comprehensive Review

Body-modifying concepts and dermatologic problems: tattooing and piercing

Summary

Purpose: Although antiepileptic drugs (AEDs) with multisource generic alternatives are becoming more prevalent, no case-control studies have been published examining multisource medication use and epilepsy-related outcomes. This study evaluated the association between inpatient/emergency epilepsy care and the occurrence of a recent switch in AED formulation.



Methods:  A case-control analysis was conducted utilizing the Ingenix LabRx Database. Eligible patients were 12–64 years of age, received ≥145 days of AEDs in the preindex period, had continuous eligibility for 6 months preindex, and no prior inpatient/emergency care. Cases received care between 7/1/2006 and 12/31/2006 in an ambulance, emergency room, or inpatient hospital with a primary epilepsy diagnosis. Controls had a primary epilepsy diagnosis in a physician's office during the same period. The index date was the earliest occurrence of care in each respective setting. Cases and controls were matched 1:3 by epilepsy diagnosis and age. Odds of a switch between “A-rated” AEDs within 6 months prior to index were calculated.



Results:  Cases (n = 416) had 81% greater odds of having had an A-rated AED formulation switch [odds ratio (OR) = 1.81; 95% confidence interval (CI) = 1.25 to 2.63] relative to controls (n = 1248). There were no significant differences between groups regarding demographics or diagnosis. Significant differences were found with regard to medical coverage type (case Medicaid = 4.6%, control Medicaid = 1.8%, p = 0.002). Post hoc analysis results excluding Medicaid recipients remained significant and concordant with the original analysis.



Discussion:  This analysis found an association between patients receiving epilepsy care in an emergency or inpatient setting and the recent occurrence of AED formulation switching involving A-rated generics.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1528-1167.2008.01703.x

Case-control analysis of ambulance, emergency room, or inpatient hospital events for epilepsy and antiepileptic drug formulation changes.

Background: Wilson’s disease (WD) is a treatable autosomal recessive metabolic disorder which could lead to protean hepatic or neurologic manifestations. WD could mimic many neurolo

Wilson’s Disease: A Great Masquerader

Factors precipitating breakthrough seizures in well-controlled epilepsy.

A 16-year-old girl was brought with history of 20-25 episodes of generalized tonicclonic seizures (GTCS) of one-day duration, without regaining consciousness in between. There was no associated fever, headache or vomiting. Decline in scholastic performance and disinhibited behavior were noted over the past eight months. A psychiatrist evaluated her and started on lithium 300 mg/day one week ago. There was no history of jaundice. Family history was unremarkable. On examination, vital signs were normal. She was stuporous, optic fundi were normal and there were no meningeal signs. All limbs were rigid, deep tendon reflexes were exaggerated and plantars were extensor. Kayser-Fleischer rings were present in cornea. Other systemic examination was normal. Investigations showed a normal hemogram. Serum electrolytes, blood sugar and creatinine were normal. Liver enzymes revealed AST 124 U/L and ALT 145 U/L. Serum ceruloplasmin was 6 mg% (normal >30 mg%). Twenty-four hour urinary copper excretion was 280 μg/day (normal <100 μg/ day). Magnetic resonance imaging showed TABLE I– Referral Patterns of Neonatal Cholestasis Syndrome.

Wilson's disease presenting as status epilepticus.

Branding: a harmful practice.

Valproate-induced bleeding: report of two cases and review of literature.

Adverse effects due to poor patient understanding of anti-epileptic medication prescriptions.

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