Wilson's disease: Difference between revisions
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==Clinical Features== | ==Clinical Features== | ||
[[File:PMC4357635 jbm-22-33-g004.png|thumb|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]] | [[File:PMC4357635 jbm-22-33-g004.png|thumb|Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).]]<ref>Ala A, et al. Wilsons disease. Lancet. 2007;369(9559):397-408. PMID 17276780</ref> | ||
[[File:Kayser-Fleischer ringArrow.jpg|thumb|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]] | [[File:Kayser-Fleischer ringArrow.jpg|thumb|Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).]] | ||
[[File:KF ring 2.jpg|thumb|Copper deposition on corneal Descemet's membrane on slit lamp exam.]] | [[File:KF ring 2.jpg|thumb|Copper deposition on corneal Descemet's membrane on slit lamp exam.]] | ||
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===Diagnosis=== | ===Diagnosis=== | ||
*Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis | *Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis<ref>Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008;47(6):2089-2111. PMID 18506894</ref> | ||
Latest revision as of 09:58, 22 March 2026
Background
- Autosomal recessive
- Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea)
- Liver becomes cirrhotic with ~5% developing liver failure
Clinical Features
- Hepatic
- Kayser-Fleischer rings (highly specific)
- Asymptomatic (steatosis, chronic hepatitis, compensated cirrhosis)
- Abdominal pain (acute liver failure/hepatitis)
- Jaundice, hepatomegaly, splenomegaly, ascites
- Upper GI bleeding; sequela of cirrhosis with varices
- Neurologic symptoms
- Dysarthria
- Gait abnormalities
- Dystonia
- Tremor
- Parkinsonism
- Psychiatric symptoms
- Depression, personality changes, impulsiveness, psychosis
Differential Diagnosis
Hepatic Dysfunction
Infectious
- Hepatitis
- Malaria
- HIV (present in 50% of AIDS patients)[2]
- EBV
- Babesiosis, leptospirosis
- Typhoid
- Hepatic abscess, amebiasis
Neoplastic
Metabolic
Biliary
- Biliary cirrhosis
Drugs
- Alcoholic cirrhosis
- Alcoholic hepatitis
- Hepatotoxic drugs
Miscellaneous
- Other causes of cirrhosis
- Autoimmune hepatitis
- Veno-occlusive disease
- CHF (right heart failure)
Neuro/psychiatric symptoms
- Essential tremor
- Parkinson's disease
- Generalized dystonia
- Primary psychiatric disorder (e.g. depression, bipolar disorder, schizophrenia
- Dementia
- Drug abuse
Evaluation
Workup
- LFTs to assess ALT/AST
- CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
- Ocular slit-lamp to assess for Kayser-Flesicher rings
Diagnosis
- Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis[3]
Management
- Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
- Low-copper diet
Disposition
- Hepatology consult should be made for follow up
- Screening for hepatocellular carcinoma (HCC) recommended but unclear association
See Also
External Links
References
- Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173.
- Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28.
- Soltanzadeh A, Soltanzadeh P, Nafissi S, et al. Wilson's disease: a great masquerader. Eur Neurol 2007; 57:80.
- Stremmel W, Meyerrose KW, Niederau C, et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115:720.