Meet the Experts: Wilson's disease

 General hepatology

Stolz 2
Meet the Experts
11 April 2019 08:30 - 09:20

Question 1: Management of asymptomatic relatives

Short case history: The first patient in this family (male, 31 years) underwent orthotopic liver transplantation (OLT) because of fulminant WD in 2002. He and his asymptomatic brother (37 years) were homozygous for p.G710A (c.2129G>C, exon 8). Fifteen years later, a fourth degree relative (female, 16 years, compound-heterozygote: p.G710A/p.G710S [c.2128G>A]) underwent OLT for fulminant WD. Further family screening revealed a third mutation (p.V536A [c.1607T>C, exon 4]) that has been regarded as disease causing. One female (21 years) and her brother (16 years) were compound heterozygotes (p.G710A/p.V536A). Both appeared healthy.  Pedigree Further diagnostic tests needed?Should these two persons be treated? Question 2. Definition of phenotypePsychiatric symptoms – when to consider WD?Neurologic symptoms - when to do noninvasive tests or a liver biopsyHepatic presentation – when to do a neurologic examinationHemolysis – when to suspect WD? Other manifestations?  Question 3: How to select treatment and how to monitor it?Question 4: Liver transplantationTiming of high urgency OLTOLT for patients with (treatment refractory) neurologic symptoms