2018
Hepatocellular carcinoma in Gaucher disease: an international case series
Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaCase seriesGD patientsIron overloadChronic hepatitis C infectionGaucher diseaseDevelopment of HCCLiver-specific complicationsHepatitis C infectionInternational case seriesDifferent referral centersMain risk factorsType 1 patientsGD type 1 patientsGD pathogenesisC infectionPrior splenectomyReferral centerLiver cirrhosisHistopathological examinationTransferrin saturationHCC riskLiver fibrosisRisk factorsHCC development
2010
Hyperferritinemia and iron overload in type 1 Gaucher disease
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. American Journal Of Hematology 2010, 85: 472-476. PMID: 20575041, PMCID: PMC2895498, DOI: 10.1002/ajh.21721.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyType 1 Gaucher's diseaseSystemic iron overloadIron overloadGaucher diseaseLiver biopsySerum ferritinReplacement therapyTransferrin saturationHFE genotypeHFE mutationsType 1 Gaucher diseaseSubset of patientsSeverity Score IndexCorrelation of ferritinClinical iron overloadSevere hyperferritinemiaDisease activityPrior splenectomyFerritin levelsClinical spectrumHFE genotypingLiver volumeIntact spleenHigh prevalence