Pearls & Oy-sters: Challenges and Controversies in Wilson Disease

Abstract

WD is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene, which are inherited in an autosomal recessive pattern. Despite all the advances made on pathogenesis, cellular biology and genetics, to date WD remains a diagnostic and therapeutic challenge. With this series of cases, we aim to illustrate the main challenges that clinicians may encounter when dealing with WD patients: the difficulties with clinical diagnosis, the therapeutic management of WD and the indication for advanced therapies, the management during pregnancy and genotype-phenotype correlations.

Myocardial involvement characteristics by cardiac MR imaging in neurological and non-neurological Wilson disease patients

“…ECG abnormalities were found in 19 patients, including premature ventricular contractions (n = 4), sinus bradycardia (n = 11), and sinus arrhythmia (n = 4). The median UWDRS score of WD-neuro + patients was 6.0 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11).…”

“…Copper overload mainly occurs in the liver and brain and causes a variety of liver damage and neurological symptoms. Patients can be divided into WD-neuro + (patients with at least one neurological symptom) and WDneuro − (patients with a primarily hepatic involvement) patients [5,6]. However, several studies have shown that copper deposition can also occur in the heart and lead to clinical symptoms of related cardiovascular disease (e.g.…”