Wilson's disease Flashcards
what is wilson’s disease?
Wilson’s disease (WD), which results from the defective ATP7B protein product, is characterized by impaired copper metabolism and build up in tissues.
Clinical features of wilson’s disease?
The disease manifestations can be pleomorphic. Wilson’s disease (WD) may be predominantly hepatic, neurological or psychiatric, and manifestations of disease may range from an asymptomatic state to life-threatening fulminant hepatic failure.
Liver involvement spans from asymptomatic disease with transaminase elevation, to acute hepatitis, acute-on-chronic liver failure, and cirrhosis. Liberation of copper into the bloodstream causes Coomb’s negative haemolytic anaemic, with transient episodes of low-grade haemolysis and jaundice.
Neurological manifestations can be categorized as:
An akinetic-rigid syndrome similar to Parkinson’s disease
Pseudosclerosis dominated by tremor
Ataxia
A dystonic syndrome, which often leads to severe contractures
Other findings include drooling, spasticity, chorea, athetosis, myoclonus, micrographia, dyslalia, hypomimia, and dysarthria. Psychiatric abnormalities, which may be present before hepatic or neurological signs in up to one third of patients, include decreased academic performance or personality changes, sexual exhibitionism, impulsiveness, labile mood, inappropriate behaviour, depression, paranoia, and schizophrenia, leading also to suicide in a discrete number of cases.
Ocular manifestations include the Kayser-Fleischer ring and sunflower cataracts in the lens, deposition of copper in the Descemet’s membrane in the first case, and in the anterior and posterior capsule of the lens, sparing epithelial and cortical cells, in the latter.
Investigations for wilson’s disease?
Serum ceuruloplasmin and copper are usually low in spite of the copper deposits in tissues. However, they may be normal.
Urinary copper is high and a 24-hour urine collection is the investigation of choice when screening for Wilson disease
The diagnosis is confirmed by genetic analysis of the ATP7B gene
Treatment of wilson’s disease?
Treatment strategies include chelators such as D-penicillamine and trientine, while zinc salts act as inductors of methallothioneins, which favour a negative copper balance and a reduction of free plasmatic copper.
Screening in first and second relatives of index cases is mandatory.
