0000000000424216

AUTHOR

Boris Schmitz

showing 2 related works from this author

Thromboembolic events in Fabry disease and the impact of factor V Leiden

2015

Although several reports suggest an increased thromboembolic event rate, especially regarding strokes and TIAs at early age in patients with Fabry disease (FD), the risk for patients with FD to experience these events, the clinical relevance of additional risk factors including the concurrence of factor V Leiden (FVL), and the benefit of enzyme replacement therapy (ERT) regarding these events remain unclear.Three hundred four consecutively recruited patients with FD were evaluated for their lifetime occurrence of thromboembolic events such as stroke, TIA, deep vein thrombosis, and pulmonary embolism. The thromboembolic risk was determined in patients with FD and concurrent FVL, and the impa…

AdultMaleRiskmedicine.medical_specialtyAdolescentEndocrinology Diabetes and MetabolismDeep veinComorbidityBiochemistryYoung AdultEndocrinologyInternal medicineGeneticsmedicineFactor V LeidenHumansEnzyme Replacement TherapyChildMolecular BiologyStrokeAgedAged 80 and overVenous Thrombosisbusiness.industryHazard ratioFactor VEnzyme replacement therapyMiddle Agedmedicine.diseaseFabry diseaseThrombosisComorbidityPulmonary embolismStrokemedicine.anatomical_structureIschemic Attack TransientChild PreschoolFabry DiseaseFemaleNeurology (clinical)Pulmonary EmbolismbusinessNeurology
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Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.

2017

Background Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these patients with FD. Methods In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male patients with FD (n = 26) receiving immunosuppressive therapy due to kidney (n = 24) or heart (n = 2) transplantation. Results No ERT-naive transplanted patient (n = 8) developed antibodies within follow-up (80 ±72 months) after ERT initiation. Seven (…

0301 basic medicineAdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAdolescentmedicine.medical_treatmentGastroenterology03 medical and health sciencesYoung Adult0302 clinical medicineMaintenance therapyInternal medicineInternal MedicineMedicineHumansEnzyme Replacement TherapyRetrospective StudiesKidneybusiness.industrynutritional and metabolic diseasesImmunosuppressionEnzyme replacement therapyMiddle Agedmedicine.diseaseFabry diseaseAntibodies NeutralizingKidney TransplantationTacrolimusTransplantation030104 developmental biologymedicine.anatomical_structureImmunologyPrednisoloneFabry DiseaseHeart Transplantationbusiness030217 neurology & neurosurgeryImmunosuppressive Agentsmedicine.drugJournal of internal medicine
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