wilson’s disease, a disease to know abdulwahab telmesani frcpc,faap faculty of medicine and...
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Wilson’s Disease, A Disease to know
Abdulwahab TelmesaniFRCPC,FAAP
Faculty of Medicine and Medical Science
Umm Al-Qura University
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Case 1
A previously healthy, 9-year-old, right-handed
Female developed 2 episodes of focal seizure
with Todd’s paralysis
Martha D. Carlson Ped Neuro 2003
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L.P and CSF exam was normal CT scan was normal EEG was abnormal Started on antiepileptic therapy
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MRI done after the 2nd episode of seizure showed;
Bilateral signal abnormalities in the basal ganglia,
thalamus, and parietal lobe.
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Hx showed change in her hand writing and speech
Normal hepatic transaminase Low ceruloplasmin A low serum copper An extremely elevated 24-hour urine
copper Ophthalmologic examination
confirmed Kayser-Fleisher rings.
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Treated with oral tetrathiomolybdate (anti-copper therapy).
Followed by zinc maintenance. Clinically improved.
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One-year follow-up MRI; Improvement in the parietal,
basal ganglia, and thalamic regions.
Martha D. Carlson Ped Neuro 2003
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Case 2An 18 years old male with
the symptoms;Suicidal ideasDepressed moodPsychomotor slowingStuttering
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Diagnosed as Schizophrenic
Received 2 years of psychotherapy
Patrick Stiller J Psych. Neurosci 2002
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P/E; No Kayser -Fleischer ring Normal physical examination
Patrick Stiller J Psych. Neurosci 2002
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Laboratory investigation; Low cerulplasmin high serum copper high 24 HR urine copper
Patrick Stiller J Psych. Neurosci 2002
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Diagnosed as Wilson’s Disease.
Symptoms improved on D – Penicillamine
Patrick Stiller J Psych. Neurosci 2002
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Case 3
19 year female diagnosed and treated as
Schizophrenic for 2 years without benefit
Patrick Stiller J Psych. Neurosci 2002
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On admission found to have;
@ Dysarthria@ Slow movement (rigidity)@ No Kayser -Fleischer ring Patrick
Stiller J Psych. Neurosci 2002
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Laboratory investigation;
@ Low cerulplasmin@ High serum copper@ Very high 24 HR urinary copper
Patrick Stiller J Psych. Neurosci 2002
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Treatment;
@ Psychotherapy discontinued@ D-Penicillamine started@ Patient improved
Patrick Stiller J Psych. Neurosci 2002
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Wilson’s Disease
Autosomal Recessive Disease The Gene ATP7B Mapped to chromosome 13
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Wilson’s Disease
Low cerulplasmin Copper deposition in; liver, brain, kidneys, eyes, heart, Hemolysis
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Wilson’s Disease
Glutathione in Hepatocytes protect against metal toxicity
G6PD maintain Glutathione
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Wilson’s Disease
The age of presentation can vary from 4 to 60 years
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We just recently reported on two siblings who had
identical ATP7B mutations that presented
differently and were not diagnosed until their
eighth decade of life
A. Ala, M.L. Schilsky / Clin Liver Dis (2004)
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Wilson’s Disease
Presents in any of the following;
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Wilson’s Disease
Early symptoms are vague and non-specific;
Lethargy Anorexia Abdominal pain Epistaxis
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Hepatic WD
Acute liver disease Chronic liver disease Acute hepatic failure
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Neuro./Psych. WD
Minimal neurological manifestations
Sever neurological manifestations
Psychiatric symptoms
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Other WD presentations
Renal tubular acidosis Bony deformities Hemolytic anemia
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Uncommon manifestations
hypercalciuria nephrocalcinosis, chondrocalcinosis osteoarthritis, sunflower cataracts cardiac manifestations.
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One of the most characteristic features of
Wilson’s disease is that no two patients,
Even within a family, are ever quite alike.
P. FERENCI . Aliment Pharmacol Ther 2004
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There is likely an even larger range of phenotypic expression than we presently recognize.
A. Ala, M.L. Schilsky / Clin Liver Dis (2004)
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Family screening
A diagnosis of WD in an individual must alert the clinician to begin screeningfirst-degree relatives of identified
parents. Screening should be performed in very
one after the ages of 3 to 5 years.
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Wilson’s Disease
Diagnosis
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Wilson’s Disease
Liver biopsy and determination of hepatic copper
(Copper/gram dried liver tissue) is the golden standard for the
diagnosis of Wilson’s Disease
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Wilson’s Disease
Diagnosis (neuro./ psych. WD) (strongly suggested ) based on at least two of the following;
Low serum Cerulplasmin High 24 HR urine copper K.F Ring
Ashish Bavdekar J Gastr & Hepat 2004
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Wilson’s Disease
MRI for Diagnosis and Follow up
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Wilson’s Disease
In the neuro. WD MRI shows lesions in the basal ganglia, cerebral white matter, midbrain, pons and cerebellum
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Hyperintensity in globus pallidus in a 20-year-old female with the initial phase of the hepatic form of Wilson’s
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Wilson’s Disease
MRI findings are reversible after treatment
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Wilson’s Disease
How about the patient with acute hepatic failure,
liver biopsy is not possible and other lab
investigations are affected by the liver disease?
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Alkaline phosphatase to total bilirubin ratio showed a good
Discriminative power in differentiating Fulminant Wilson’s
disease from Fulminant hepatic failure of other causes, and a
ratio <1 showed a 86% sensitivity and 50% specificity for
Fulminant Wilson’s disease diagnosis.
Pierre Tissières, MD; Pediatr Crit Care Med 2003
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Wilson’s DiseaseDiagnosis (acute hepatic failure)
strongly suggested by the following;
Low Hgb (hemolysis) Bilirubin more than 6 times & transaminases
less than 4 times (AST more than ALT) Low Alkaline phosphates High serum Copper Low serum cerulopasmin in siblings
Ashish Bavdekar J Gastr & Hepat 2004
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Wilson’s Disease
Treatment; D- Penicillamine Trientine Tetrathiomolybdate Zinc
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The future
gene replacement therapy gene repair Hepatocytes transplantation
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Q;
How many of the seizures patients are Wilson's Disease?
How many of psychiatry patients are Wilson's Disease?
How many of the undiagnosed liver disease patients are Wilson's Disease?
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Q;
How many of FTT patients are Wilson's Disease?
How many of the undiagnosed hemolytic anemia patients are Wilson's Disease?
How many …? How many …? How many …?