The IX t h Makassed Medical Congress - American University of Beirut

T h e I X t h M a k a s e d M e d i c a l C o n g r e s s
clinical symptoms. D-penicillamine is a chelating agent, and remains the first line treatment of
WD. Treatement should be increased progressively and tolerance carefully monitored since
many side effects have been reported (including early sensitivity reactions, nephrotoxicity,
lupus-like syndrome, thrombocytopenia or total aplasia, dermatological manifestations. Trientine
(triethylene tetramine dihydrochloride) is also a chelator effective in the treatment for WD and
is indicated especially in patients who are intolerant of penicillamine. Trientine has few side
effects. Zinc interferes with the uptake of copper from the gastrointestinal tract. Zinc has very
few side effects. Although zinc is currently reserved for maintenance treatment, it has been
used as first-line therapy, most commonly for asymptomatic or presymptomatic patients where it
appears to be equally effective as penicillamine but much better tolerated. Foods with very high
concentrations of copper (shellfish, nuts, chocolate, mushrooms, and organ meats) generally
should be avoided, at least in the first year of treatment.
Children with acute liver failure due to WD require liver transplantation, which is life-saving. A
scoring system help determine which patients with acute hepatic presentations will not survive
without liver transplantation, including serum bilirubin, serum aspartate aminotransferse, and
prolongation of prothrombin time above normal. Until transplantation can be performed,
plasmapheresis and hemofiltration and exchange transfusion or hemofiltration or dialysis may
protect the kidneys from copper-mediated tubular damage. Albumin dialysis and Molecular
Adsorbents Recirculating System ultrafiltration device can stabilize patients with acute liver failure
due to WD and delay, but not eliminate, the need for transplantation.[
RECENT ADVANCES AND PERSPECTIVES:
Neurologic manifestations present most often in the third decade of life, but earlier subtle
findings may appear in pediatric patients, including changes in behavior, deterioration in
schoolwork, or inability to perform activities requiring good hand-eye coordination. Recent
recommendations highlight the need of systematic neurological evaluation in childhood
including eventually brain imaging procedure (computerized tomography and/or resonance
magnetic imaging).
Direct assessment of serum non-ceruloplasmin bound copper concentration is a promising tool
both for diagnosis and monitoring treatment of WD.
Non invasive tests for assessing liver fibrosis (fibrotest, fibroscan…) are promising tools to monitor
evolution of liver disease.
ACTUAL RECOMMENDATIONS (Diagnosis and treatment of Wilson disease: An update. AASLD
Practice Guidelines. Eve A. Roberts, Michael L. Schilsky. Hepatology 2008;47:2089-111)
1. WD should be considered in any individual between the ages of 3 and 55 years with liver
abnormalities of uncertain cause. Age alone should not be the basis for eliminating a diagnosis
of WD (Class I, Level B).
2. WD must be excluded in any patient with unexplained liver disease along with neurological
or neuropsychiatric disorder (Class I, Level B).
3. In a patient in whom WD is suspected, Kayser-Fleischer rings should be sought by slit-lamp
examination by a skilled examiner. The absence of Kayser-Fleischer rings does not exclude the
diagnosis of WD, even in patients with predominantly neurological disease (Class I, Level B).
4. An extremely low serum ceruloplasmin level (