2025
Chapter 30 Wilson disease⊛
To U, Schilsky M. Chapter 30 Wilson disease⊛. 2025, 841-859. DOI: 10.1016/b978-0-443-26711-6.00030-5.Peer-Reviewed Original ResearchWilson's diseaseAutosomal recessive disorderATP7B proteinNegative copper balanceDiverse phenotypesATP7B geneUnexplained liver diseaseLong-term survivalCopper transportBiochemical testsGenetic testingRecessive disorderMetabolic correctionLiver transplantationMedical historyHepatic symptomsLiver diseaseATP7BCopper excretionNeurological assessmentDietary restrictionIncreased excretionCopper balancePsychiatric symptomsExcretion
2024
Wilson disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024 PMID: 39496313, DOI: 10.1055/a-2460-8999.Peer-Reviewed Original ResearchWilson's diseaseTrials of gene therapyLiver biopsy specimensDried blood spotsCase of WDBiliary copper excretionBiopsy specimensGene therapyDiagnostic advancesMonitoring therapyWD diagnosisNewborn screeningLiver diseaseCopper excretionTherapeutic approachesBlood spotsTherapyTherapeutic objectivesDiseaseDiagnosisLiverCopper assayPatientsExcretion
2022
Major Depressive Disorder in an International Multisite Wilson Disease Registry
Camarata M, Ala A, Coskun A, Deng Y, Embel V, Gonzalez-Peralta R, Maciejewski K, Patel A, Rubman S, To U, Tomlin R, Schilsky M, Zimbrean P. Major Depressive Disorder in an International Multisite Wilson Disease Registry. Journal Of The Academy Of Consultation-Liaison Psychiatry 2022, 64: 106-117. PMID: 36521682, DOI: 10.1016/j.jaclp.2022.12.001.Peer-Reviewed Original ResearchConceptsMajor depressive disorderWilson's diseaseDepressive disorderLifetime major depressive disorderMental health QOLPhysical health QoLMajor depressive episodeMental health qualityStructured psychiatric evaluationSignificant differencesCross-sectional reportsLiver testsLiver diseaseNeurological assessmentLife scoresClinical correlatesDepressive episodePsychiatric symptomsPsychiatric evaluationDisease RegistrySevere anxietyLaboratory testsLifetime historySignificant associationPatients
2020
P13 Major depressive disorder in patients with wilson’s disease: relationship with liver disease, neurological disease and quality of life
Camarata M, Ala A, Maciejewski K, To U, Zimbrean P, Rubman S, Patel A, Wadhwa A, Coskun A, Apdik T, Tomlin R, Deng Y, Schilsky M. P13 Major depressive disorder in patients with wilson’s disease: relationship with liver disease, neurological disease and quality of life. Gut 2020, 69: a13-a13. DOI: 10.1136/gutjnl-2020-basl.24.Peer-Reviewed Original ResearchMajor depressive disorderQuality of lifeMental health QOLWilson's diseaseNeurological diseasesLiver diseaseDepressive disorderFirst presentationExact testDepression symptomologySeverity of liverLifetime major depressive disorderLiver disease severityFisher's exact testPhysical health QOLSignificant differencesWilcoxon rank sum testMental health problemsRank sum testFIB4 scoreClinical featuresNeurological assessmentPHQ-9PatientsCurrent depressionFRI303 Major depressive disorder in patients with Wilson’s disease: relationship with liver disease, neurological disease and quality of life
Camarata M, Ala A, To U, Zimbrean P, Rubman S, Patel A, Wadhwa A, Maciejewski K, Song X, Deng Y, Tomlin R, Apdik T, Coskun A, Schilsky M. FRI303 Major depressive disorder in patients with Wilson’s disease: relationship with liver disease, neurological disease and quality of life. Journal Of Hepatology 2020, 73: s550-s551. DOI: 10.1016/s0168-8278(20)31573-7.Peer-Reviewed Original ResearchInherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2020, 2115-2120. DOI: 10.1093/med/9780198746690.003.0234.Peer-Reviewed Original ResearchLiver diseaseCopper excretionHigh urinary copper excretionWilson's diseaseDecompensated liver diseasePrevious affected siblingFulminant hepatic failureUrinary copper excretionKayser-Fleischer ringsConnective tissue disordersLow serum ceruloplasminAge 3 yearsFunction mutationsDefective copper transportAutosomal recessive lossLiver copper contentSingle biochemical testFlorid presentationLiver transplantationHepatic failureMedical therapyClinical presentationClinical findingsUncommon disorderTypical presentation
2019
Chapter 15 General Considerations and the Need for Liver Transplantation
Camarata M, Weiss K, Schilsky M. Chapter 15 General Considerations and the Need for Liver Transplantation. 2019, 173-182. DOI: 10.1016/b978-0-12-811077-5.00015-3.Peer-Reviewed Original ResearchAcute liver failureLiver transplantationWilson's diseaseLiver failureMedical therapyUse of LTEnd-stage liver diseaseLive donor transplantsOnly viable treatment optionViable treatment optionCombination of dietRare autosomal recessive disorderAlternative transplant strategyWilson's disease patientsAutosomal recessive disorderAuxiliary transplantInitial presentationLiver diseaseMedical managementNeurological symptomsTransplant strategiesTreatment optionsDisease patientsDonor poolDisease progression
2018
The Epidemiology of Rare Hereditary Metabolic Liver Diseases
Pericleous M, Kelly C, Ala A, Schilsky M. The Epidemiology of Rare Hereditary Metabolic Liver Diseases. 2018, 307-330. DOI: 10.1007/978-3-319-94355-8_17.Peer-Reviewed Original ResearchLiver diseaseRare diseaseLysosomal acid lipase deficiencyUnited States definitionMetabolic liver disordersMetabolic liver diseaseAcid lipase deficiencyΑ1-antitrypsin deficiencyIndividual liver diseasesGenotype-phenotype characterizationLiver disordersHereditary hemochromatosisWilson's diseaseDiseaseHealth CommissionLipase deficiencyMonitoring Treatment of Wilson Disease
Miloh T, Schilsky M. Monitoring Treatment of Wilson Disease. Clinical Gastroenterology 2018, 143-159. DOI: 10.1007/978-3-319-91527-2_8.Peer-Reviewed Original ResearchWilson's diseaseAdjustment of treatmentType of therapyBetter patient outcomesQuality of lifePhases of treatmentFrequency of monitoringNeurologic findingsMedical therapyKF ringLiver diseaseClinical statusUrine testingPhysical examPatient outcomesDietary restrictionPsychiatric findingsHealth statusCopper intakeTreatment monitoringAppropriate monitoringDiseaseCopper statusTreatmentTherapyLiver Transplantation for Wilson Disease
Miloh T, Schilsky M. Liver Transplantation for Wilson Disease. Clinical Gastroenterology 2018, 183-202. DOI: 10.1007/978-3-319-91527-2_11.Peer-Reviewed Original ResearchAcute liver failureLiver transplantationLiver failureWilson's diseaseChronic end-stage liver diseaseEnd-stage liver disease (MELD) scoreNon-resectable liver cancerEnd-stage liver diseaseHeterotopic liver transplantationLiver Disease scoreRisk of morbidityStatus 1APortal hypertensionLiver donationLiver diseaseLiver functionCell transplantationLifelong immunosuppressionTransplant surgeryChronic diseasesDonor organsLiver cancerWait listDisease scorePatientsTreating Other Symptoms of Wilson Disease: The Liver
Camarata M, Schilsky M. Treating Other Symptoms of Wilson Disease: The Liver. Clinical Gastroenterology 2018, 87-106. DOI: 10.1007/978-3-319-91527-2_5.Peer-Reviewed Original ResearchWilson's diseaseLiver diseaseLiver cancerEnd-stage liver diseaseAcute liver failureMinority of patientsTime of diagnosisRoutine laboratory testingWilson's disease patientsPortal hypertensionInflamed liverLiver failurePrompt initiationAppropriate therapyChronic inflammationDisease patientsFamily screeningDisease progressionTimely initiationSevere symptomsPathological accumulationCirrhosisPatientsDiseaseLiver
2017
Wilson Disease
Schilsky M, Ala A. Wilson Disease. 2017, 799-819. DOI: 10.1002/9781119251316.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalAcute liver failureCentral nervous systemAsymptomatic patientsBiliary copper excretionLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyLiver diseasePatient survivalHepatic diseasePsychiatric symptomsNervous systemBiochemical findingsCopper excretionDiseaseInherited disorderDisease-specific mutationsPatientsMutation analysisTreatment
2015
Therapeutic hypothermia in acute liver failure: A multicenter retrospective cohort analysis
Karvellas CJ, Stravitz R, Battenhouse H, Lee WM, Schilsky ML, Group F. Therapeutic hypothermia in acute liver failure: A multicenter retrospective cohort analysis. Liver Transplantation 2015, 21: 4-12. PMID: 25308108, PMCID: PMC4939841, DOI: 10.1002/lt.24021.Peer-Reviewed Original ResearchMeSH KeywordsAcetaminophenAdultAnalgesics, Non-NarcoticBrain EdemaChemical and Drug Induced Liver InjuryChi-Square DistributionFemaleHumansHypothermia, InducedLiver Failure, AcuteLogistic ModelsMaleMiddle AgedMultivariate AnalysisOdds RatioRegistriesRetrospective StudiesRisk FactorsTime FactorsTreatment OutcomeUnited StatesConceptsAcute liver failureNon-APAP patientsALF patientsTherapeutic hypothermiaAPAP patientsLiver failureUS Acute Liver Failure Study GroupAcute Liver Failure Study GroupImpact of THMulticenter retrospective cohort analysisTransplant-free survival rateEnd-stage liver diseaseAPAP-ALF patientsRetrospective cohort studyRetrospective cohort analysisAcetaminophen patientsSpontaneous survivalCerebral edemaCohort studyProspective trialHepatic encephalopathyLiver diseaseTracheal infectionGrade IIIWorse outcomes
2011
Genetic Modifiers of Liver Injury in Hereditary Liver Disease
Ala A, Schilsky M. Genetic Modifiers of Liver Injury in Hereditary Liver Disease. Seminars In Liver Disease 2011, 31: 208-214. PMID: 21538285, DOI: 10.1055/s-0031-1276648.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlpha 1-AntitrypsinAlpha 1-Antitrypsin DeficiencyAnimalsCation Transport ProteinsCopper-transporting ATPasesDisease ProgressionGenetic Predisposition to DiseaseHemochromatosisHemochromatosis ProteinHepatolenticular DegenerationHeredityHistocompatibility Antigens Class IHumansLiverMembrane ProteinsPhenotypeSeverity of Illness IndexConceptsLiver diseaseWilson's diseaseGenetic hemochromatosisHereditary liver diseasesHepatic injuryLiver injuryIron overloadATP7B genotypeA1-ATC282Y mutationClinical phenotypeDiseaseRegenerative capacityGenetic modifiersPatientsInjuryHemochromatosisHeterozygous genotypeModifier genesGenetic backgroundMutationsWide variationModifier effectSignificant variabilityLiver
2008
Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests
Korman JD, Volenberg I, Balko J, Webster J, Schiodt FV, Squires RH, Fontana RJ, Lee WM, Schilsky ML, Groups P. Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests. Hepatology 2008, 48: 1167-1174. PMID: 18798336, PMCID: PMC4881751, DOI: 10.1002/hep.22446.Peer-Reviewed Original ResearchConceptsAcute liver failureDiagnosis of ALFSerum copper levelsFulminant Wilson's diseaseWilson's diseaseLiver failureDiagnostic sensitivityEmergency liver transplantationChronic liver diseaseAlkaline phosphataseAvailable diagnostic testsCopper levelsAvailable laboratory testsALF patientsTransplant listingLikelihood ratioLiver transplantationSerum aminotransferasesLiver diseaseALT ratioSerum ceruloplasminBilirubin ratioPatientsSerum CpRapid diagnosis
2005
Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry.
Kowdley K, Brandhagen D, Gish R, Bass N, Weinstein J, Schilsky M, Fontana R, McCashland T, Cotler S, Bacon B, Keeffe E, Gordon F, Polissar N. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology 2005, 129: 494-503. PMID: 16083706, DOI: 10.1016/j.gastro.2005.05.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAnalysis of VarianceCause of DeathCohort StudiesConfidence IntervalsFemaleGenetic MarkersGenotypeHemochromatosisHistocompatibility Antigens Class IHumansIron OverloadLiver Function TestsLiver TransplantationMaleMiddle AgedMutationProbabilityPrognosisProportional Hazards ModelsRegistriesSensitivity and SpecificitySeverity of Illness IndexSurvival AnalysisConceptsHepatic iron overloadHepatic iron indexHepatic iron concentrationLiver transplantationIron overloadPosttransplantation survivalC282Y/H63D mutationsEnd-stage liver diseaseHFE gene testingHFE mutation statusLiver transplantation centerNon-HH patientsOrgan Sharing statusYear of transplantationWild-type patientsPostliver transplantationTransplant RegistryHazard ratioTransplantation centersUncontrolled studiesLiver diseasePoor outcomeUnited NetworkIron indicesEarly diagnosis
2001
Metabolic liver disease
Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.Peer-Reviewed Original ResearchTherapeutic optionsAlpha-1-antitrypsin diseaseExciting new therapeutic optionsAcute liver failureNew therapeutic optionsMetabolic liver diseaseIron overload disordersLiver failureLiver diseaseLysosomal storage diseaseMetabolic diseasesWilson's diseaseOverload disordersDiseaseStorage diseaseLiverTreatmentNovel metabolic pathwaysMetabolic pathwaysReviewOptionsPathogenesisHemochromatosisPathwayDiagnosis
1998
Wilson’s Disease
Schilsky M, Sternlieb I. Wilson’s Disease. Current Clinical Practice 1998, 285-292. DOI: 10.1007/978-1-4612-1808-1_21.Peer-Reviewed Original ResearchWilson's diseaseCell deathAutosomal recessive disorderBiliary copper excretionInflammatory changesHepatic insufficiencyLiver diseaseLiver injuryMinor abnormalitiesCell injuryCopper excretionAbnormal accumulationDiseaseAccumulation of copperInjuryRecessive disorderDisease mutationsDeathCopper metabolismLiverOrgansChromosome 13CirrhosisInflammationFibrosis
1991
Prognosis of Wilsonian chronic active hepatitis
Schilsky M, Scheinberg I, Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology 1991, 100: 762-767. PMID: 1993498, DOI: 10.1016/0016-5085(91)80023-3.Peer-Reviewed Original ResearchConceptsChronic active hepatitisActive hepatitisWilson's diseaseD-penicillamineAbnormal water retentionPresence of cirrhosisMonths of treatmentSuccessful pharmacological treatmentMajority of subjectsLiver transplantSalt restrictionLaboratory featuresSymptomatic improvementLiver diseaseTherapeutic regimenPharmacological treatmentAlanine aminotransferasePatientsAspartate aminotransferaseHepatitisNormal levelsDiseaseCirrhosisTrientinePrognosis