Introduction
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In June 2022, the British Association for the Study of the Liver (BASL) issued guidelines for the assessment and management of hepatolenticular degeneration (Wilson disease). Contents include indications for Wilson disease, interpretation of initial findings, optional further testing, and initial and long-term management. Each recommendation is scored on a scale of 1 to 5, with 1 indicating the strongest level of evidence.
2022 BASL Practice Guidelines: Assessment and Management of Wilson Disease
1 CheckIndications
1.1 All adults with liver disease should be routinely screened for Wilson disease. (Level of Evidence: 3)
1.2 All children with liver disease should receive routine examinations and more extensive screening for Wilson disease. (Level of Evidence: 3)
1.3 All adults with unexplained liver disease, even with laboratory tests, liver imaging, and histology Examination, should be more extensive screening for Wilson disease. (Level of Evidence: 3)
1.4 All adult patients with liver disease with dyskinesia or unexplained hemolytic anemia should Screening for Wilson disease. (Level of Evidence: 4)
1.5 Except in patients with isolated cervical dystonia or blepharospasm, all patients with progressive postural tremor, Patients 5-50 years of age with dystonia or Parkinson’s syndrome should be routinely screened for Wilson’s disease. (Level of Evidence: 4)
1.6 All mixed movement disorders with any red flags (subacute onset or progression, early bulbar involvement, executive Patients with functional impairment, behavioral/personality changes, or suspected liver disease) should receive routine testing and more extensive screening for Wilson disease in addition to neuroimaging. (Level of Evidence: 4)
1.7 All patients with unexplained Coombs-negative hemolytic anemia should undergo routine testing and more extensive screening for Wilson disease . (Level of Evidence: 4)
2 Interpretation of Preliminary Examination Results
2.1 Serum ceruloplasmin <0.10 g/L is highly suggestive of Wilson disease, but more extensive screening for Wilson disease is usually required to make a diagnosis. (Level of Evidence: 2)
2.2 Serum ceruloplasmin at 0.10-0.20 g/L has a variety of reasons, suggesting the need for more extensive screening. Check for Wilson disease. (Evidence level: 2)
2.3 Serum ceruloplasmin>0.20 g/L does not rule out the diagnosis of Wilson disease, but reduces the possibility . (Level of Evidence: 2)
2.4 Written instructions for 24-hour urine collection should be provided to patients, and non-acid wash containers should be provided. (Level of Evidence: 3)
2.5 Copper excretion >0.64 μmol/24 h (40 μg/24 h) suggests Wilson disease, but requires Further examination to make a diagnosis. (Level of Evidence: 2)
2.6 The presence of Kayser-Fleischer rings on slit-lamp examination is highly suggestive of Wilson disease. (Level of Evidence: 2)
2.7 Initial investigations should be performed as soon as possible given the risk of liver and neurological deterioration. (Level of Evidence: 4)
2.8 For patients with suspected Wilson disease, urgent discussions should be made with a specialist center. (Level of Evidence: 4)
3 Further Inspection p>
3.1 Serum copper should not be routinely used alone to confirm or exclude the diagnosis of Wilson disease. (Level of Evidence: 3)
3.2 Serum copper test results are pending, and clinicians should not delay initiating therapy. (Level of Evidence: 4)
3.3 All patients with clinical and biochemical suspicion of Wilson disease require genetic testing, but initiation of treatment should not be delayed. (Level of Evidence: 3)
3.4 All patients with suspected Wilson disease, regardless of clinical presentation, should undergo liver ultrasound scan. (Level of Evidence: 2)
3.5 At the time of diagnosis of Wilson disease, liver stiffness should be measured by transient elastography in all adults without apparent cirrhosis . (Level of Evidence: 2)
3.6 Wilson disease should be considered in patients with unexplained dyskinesia and abnormal basal ganglia, thalamus, or brainstem signaling . (Level of Evidence: 3)
3.7 MRI brain scans should be used in any patient with suspected Wilson disease with neurological or psychiatric manifestations. (Level of Evidence: 2)
3.8 MRI brain scans should be performed in all patients diagnosed with Wilson disease, regardless of initial presentation. (Level of Evidence: 2)
3.9 Liver biopsy of parenchymal Diagnosis of Wilson disease. (Level of Evidence: 2)
3.10 Liver parenchyma copper content >209 μg/g dry weight in the absence of cholestatic liver disease The tissue is highly suggestive of Wilson disease. (Level of Evidence: 2)
3.11In patients with confirmed Wilson disease, liver biopsy may be considered when the presence of cirrhosis is clinically uncertain. (Level of Evidence: 2)
3.12 Liver biopsy is not suitable for patients with confirmed Wilson disease but no evidence of liver involvement. (Level of Evidence: 4)
3.13 When other test results are inconclusive and clinical suspicion remains, copper-65 testing can be performed in specialized centers . (Level of Evidence: 3)
4 Initial Administration p>
4.1 All children with acute liver failure or decompensated liver disease should be referred urgently to a pediatric liver transplant center. (Level of Evidence: 2)
4.2 Adult patients with acute liver function should be urgently referred to a liver transplant center. (Level of Evidence: 2)
4.3 Liver transplantation is indicated for children with decompensated liver disease and encephalopathy. (Level of Evidence: 2)
4.4 Liver transplantation should be considered in all adult patients with acute liver failure. (Level of Evidence: 2)
4.5 The new Wilson index should be used for prognostic judgment and help in decision-making for liver transplantation in children. (Level of Evidence: 3)
4.6 Penicillamine monotherapy is the first-line treatment for children and adults in the UK and should be Introduced after specialist centres. (Level of Evidence: 3)
4.7 Trientine hydrochloride or tetrahydrochloride may be used in children with penicillamine intolerance or increased risk of adverse effects and adult patients. (Level of Evidence: 3)
4.8 Children should be gradually introduced to penicillamine in dose increments of 125-250 mg weekly. (Level of Evidence: 4)
4.9 Adults with neurological or psychiatric symptoms should be gradually introduced into Mycoamine. (Level of Evidence: 4)
4.10 In the absence of neurological symptoms or neuroimaging abnormalities, adults with decompensated liver disease may Faster introduction of penicillamine. (Level of Evidence: 4)
4.11 Whole blood cells should be performed before starting penicillamine treatment, after 1 week of treatment, and every 2 weeks thereafter Counts, liver function tests, renal function tests, and urine dipstick tests were performed for 3 months to monitor adverse reactions. (Level of Evidence: 4)
4.12 Zinc salts are third-line therapy for adults in the UK and should only be initiated by specialist centres; As monotherapy in patients with cirrhosis, unless other treatments are unavailable or contraindicated. (Level of Evidence: 3)
4.13 Due to insufficient evidence, the guideline cannot make a recommendation for the use of zinc salts in children; Hepatologist for children identified by home screening, or for maintenance therapy (with or without chelation). (Level of Evidence: NA)
4.14 Dietary copper intake should be restricted in the first year of treatment; treatment should be considered for continued restriction after 1 year Response, adherence, and impact on quality of life. (Level of Evidence: 4)
4.15 Patients with neurological symptoms should be followed regularly by a movement disorder specialist for at least 12 months after treatment initiation. (Level of Evidence: 4)
4.16 The 24-hour urinary copper excretion should be measured within the first 2 months during continued medication (treatment). to confirm adequate copper excretion. (Level of Evidence: 4)
5 Long-Term Management p>
5.1 The 24-hour urinary copper excretion should be 3-8 μmol/24 h (200-500 μg/24 h) during chelating therapy, and 24 μmol/24 h during chelating therapy. h Urinary copper excretion should be 0.5-1.2 μmol/24 h (30-75 μg/24 h). (Level of Evidence: 4)
5.2 For patients receiving chelation therapy, 24-hour urinary copper excretion should be 0.2-0.6 μmol/24 h (12-40 μg/24 h). (Evidence level: 4)
5.3 Non-ceruloplasmin-bound copper should be <2.4 μmol/L (15 μg/dL). (Level of Evidence: 4)
5.4 Patients with cirrhosis should be considered for 6-month ultrasound screening for hepatocellular carcinoma. (Level of Evidence: 4)
5.5 Chelation therapy should be continued throughout pregnancy. (Level of Evidence: 3)
5.6 Breastfeeding is not recommended for women undergoing chelation therapy. (Level of Evidence: 4)
6 Family Screening< /p>
6.1 All first-degree relatives of patients diagnosed with Wilson disease should undergo clinical evaluation, routine examinations, and genetic screening. (Level of Evidence: 2)
6.2 Treatment of asymptomatic patients should only be initiated by specialist centres. (Level of Evidence: 4)
Marjot T, Sharif A, et al. Investigation and management of Wilson’s disease: a practical guide from the British Association for the Study of the Liver[J]. Lancet Gastroenterol Hepatol. 2022 Jun;7(6):560-575. doi : 10.1016/S2468-1253(22)00004-8.