Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

EASL publishes first European Clinical Practice Guidelines for Wilson's disease

07.02.2012
Geneva, Switzerland: The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson's disease are published today by the European Association for the Study of the Liver (EASL) on the EASL website -- www.easl.eu.(1)

Developed to assist physicians and healthcare providers in the clinical decision making process, the guidelines describe best practice for the diagnosis and treatment of patients with Wilson's disease -- a rare genetic(2) disorder that, if left untreated, is fatal.

Approximately one in 30,000 people worldwide are affected by Wilson's disease -- a condition in which copper is not excreted by the body effectively, leading to excess copper build up, liver failure and damage to the brain. While Wilson's disease may manifest at any age, the majority of patients present between the ages of 5 and 35.

Lead author Professor Peter Ferenci said: "The clinical presentation of Wilson's disease can vary widely, but it must be considered in any patient who presents with a combination of unexplained liver disease and neurological or neuropsychiatric disorders. In the absence of Kayser-Fleischer rings(3) -- which are typical, but not always present -- the guidelines recommend measurement of urinary copper excretion and hepatic parenchymal copper as diagnostic methods of choice. Notably, age alone should not be the basis for eliminating a diagnosis of Wilson's disease."

The CPGs, based on a systematic review of existing literature, provide best practice diagnosis and treatment protocols with an emphasis on:

Clinical presentation and prognosis

Diagnostic strategies (e.g. serum ceruloplasmin, basal 24-hour urinary copper excretion, genetic analysis)

Importance of family screening

Treatment options (e.g. chelating agents, zinc, liver transplantation)

With treatment, prolonged survival has become the norm for Wilson's disease patients. The guidelines recommend chelating agents -- drugs that bind to copper and remove it from the body (D-penicillamine or trientine) -- as the initial treatment for symptomatic patients and that, unless liver transplantation is performed, treatment is maintained for life.

Professor Roderick Houwen added: "Unfortunately, as there are no optimally designed randomized controlled trials conducted in Wilson's disease, there is a lack of high-quality evidence to estimate the relative treatment effects of the available drugs. Our evaluation is mostly based on large case series that have been reported in recent decades, which highlights a clear need to conduct more robust randomized controlled trials to better understand treatment for this rare condition."

Professor Mark Thurz, EASL Secretary General, added: "EASL is dedicated to promoting hepatology research and education to improve the worldwide treatment of liver disease. Its series of Clinical Practice Guidelines aims to promote best practice to drive better clinical outcomes and inform both the scientific community and the wider public of the latest developments in the field. We hope these new Wilson's disease guidelines provide clinicians with the most up-to-date, evidence based methods for the management of affected patients."

The Wilson's disease CPGs will be published in the March issue (Volume 56, No. 3) of the Journal of Hepatology -- EASL's official journal.

About EASL

EASL is the leading European scientific society involved in promoting research and education in hepatology. EASL attracts the foremost hepatology experts and has an impressive track record in promoting research in liver disease, supporting wider education and promoting changes in European liver policy.

EASL's main focus on education and research is delivered through numerous events and initiatives, including:

The International Liver CongressTM which is the main scientific and professional event in hepatology worldwide

Meetings including Monothematic and Special conferences, Post Graduate courses and other endorsed meetings that take place throughout the year

Clinical and Basic Schools of Hepatology, a series of events covering different aspects in the field of hepatology

Journal of Hepatology published monthly

Participation in a number of policy initiatives at European level

1. Ferenci P, et al (2011) Wilson's disease: EASL Clinical Practice Guidelines. European Association for the Study of the Liver. Available at http://www.easl.eu/_clinical-practice-guideline

2. Due to mutations of the ATP7B gene on chromosome 13.

3. Kayser-Fleischer rings are a golden-brown discolouring of the eye's corneal rim. The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.

Travis Taylor | EurekAlert!
Further information:
http://www.easl.eu

More articles from Health and Medicine:

nachricht Chances to treat childhood dementia
24.07.2017 | Julius-Maximilians-Universität Würzburg

nachricht World first: Massive thrombosis removed during early pregnancy
20.07.2017 | Universitätsspital Bern

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: 3-D scanning with water

3-D shape acquisition using water displacement as the shape sensor for the reconstruction of complex objects

A global team of computer scientists and engineers have developed an innovative technique that more completely reconstructs challenging 3D objects. An ancient...

Im Focus: Manipulating Electron Spins Without Loss of Information

Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.

For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...

Im Focus: The proton precisely weighted

What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.

To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...

Im Focus: On the way to a biological alternative

A bacterial enzyme enables reactions that open up alternatives to key industrial chemical processes

The research team of Prof. Dr. Oliver Einsle at the University of Freiburg's Institute of Biochemistry has long been exploring the functioning of nitrogenase....

Im Focus: The 1 trillion tonne iceberg

Larsen C Ice Shelf rift finally breaks through

A one trillion tonne iceberg - one of the biggest ever recorded -- has calved away from the Larsen C Ice Shelf in Antarctica, after a rift in the ice,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Closing the Sustainability Circle: Protection of Food with Biobased Materials

21.07.2017 | Event News

»We are bringing Additive Manufacturing to SMEs«

19.07.2017 | Event News

The technology with a feel for feelings

12.07.2017 | Event News

 
Latest News

Ultrathin device harvests electricity from human motion

24.07.2017 | Power and Electrical Engineering

Scientists announce the quest for high-index materials

24.07.2017 | Materials Sciences

ADIR Project: Lasers Recover Valuable Materials

24.07.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>