familialamyloidpolyneuropathy1.JPeripherNervSyst.2015Dec13.doi:10.1111/jns.12153.[Epubaheadofprint]"Red-flag"symptomclustersintransthyretinfamilialamyloidpolyneuropathy.ConceiçãoI(1),González-DuarteA(2),ObiciL(3),SchmidtHH(4),SimoneauD(5),OngML(6),AmassL(6).Authorinformation:(1)CHLN-HospitaldeSantaMaria,andClinicalandTranslationalPhysiologyUnit,PhysiologyInstitute,FacultyofMedicine-IMM,Lisbon,Portugal.(2)InstitutoNacionaldeCienciasMédicasyNutriciónSalvadorZubirán,MéxicoCity,México.(3)AmyloidosisResearchandTreatmentCenter,FondazioneIRCCSPoliclinicoSanMatteo,Pavia,Italy.(4)KlinikfürTransplantationsmedizin,UniversitätsklinikumMünster,Münster,Germany.(5)PfizerIO,Paris,France.(6)PfizerInc,NewYork,NY,USA.BACKGROUND:Transthyretinfamilialamyloidpolyneuropathy(TTR-FAP)isarare,progressive,life-threatening,hereditarydisordercausedbymutationsinthetransthyretingeneandcharacterizedbyextracellulardepositionoftransthyretin-derivedamyloidfibrilsinperipheralandautonomicnerves,heart,andotherorgans.TTR-FAPisfrequentlydiagnosedlatebecausethediseaseisdifficulttorecognizeduetophenotypicheterogeneity.METHODS:Basedonpublishedliteratureandexpertopinion,symptomclusterssuggestingTTR-FAParereviewed,andpracticalguidancetofacilitateearlierdiagnosisisprovided.ResultsandconclusionsTTR-FAPshouldbesuspectedifprogressiveperipheralsensory-motorneuropathyisobservedincombinationwithoneormoreofthefollowing:familyhistoryofaneuropathy,autonomicdysfunction,cardiachypertrophy,gastrointestinalproblems,inexplicableweightloss,carpaltunnelsyndrome,renalimpairment,orocularinvolvement.IfTTR-FAPissuspected,transthyretingenotyping,confirmationofamyloidintissuebiopsy,large-andsmall-fiberassessmentbynerveconductionstudiesandautonomicsystemevaluations,andcardiactestingshouldbeperformed.Thisarticleisprotectedbycopyright.Allrightsreserved.PMID:26663427[PubMed-assuppliedbypublisher]2.Transplantation.2015Dec11.[Epubaheadofprint]SurvivalAfterTransplantationinPatientsWithMutationsOtherThanVal30Met:ExtractsFromtheFAPWorldTransplantRegistry.SuhrOB(1),LarssonM,EriczonBG,WilczekHE;FAPWTRʼsinvestigators.Authorinformation:(1)1DepartmentofPublicHealthandClinicalMedicine,UmeåUniversityHospital,Umeå,Sweden.2DivisionofTransplantationSurgery,KarolinskaInstitutet,CLINTEC,KarolinskaUniversityHospital,Huddinge,Stockholm,Sweden.BACKGROUND:Livertransplantation(LTx)hasbeenperformedforhereditarytransthyretinamyloidosis(ATTR)since1990.OutcomesforarelativelylargeseriesofLTxATTRpatientswiththeVal30Met(mutationareavailable,butfornon-Val30Metpatients,onlyafewreportswithasmallnumberofpatientsexist.Here,wepresentoutcomesfornon-Val30MetATTRpatientsafterLTx,asreportedtotheFamilialAmyloidPolyneuropathyWorldTransplantRegistry(FAPWTR).METHODS:Dataregardingoutcomewereextractedforallnon-Val30Metpatientsreportedtotheregistry.SurvivalrateswereanalyzedbytheKaplan-Meiermethodandlog-ranktest.RESULTS:Thetotalnumberofpatientswithanon-Val30Metmutationintheregistrywas264(174menand90women),representing57mutations.The10-yearsurvivalvariedmarkedlyforthe9mostcommonmutations,rangingfrom21%forSer50Argto85%forVal71Ala.PoorsurvivalwasnotedforallmutationswithleptomeningealcomplicationsexceptforthosewiththeTyr114Cysmutation.CONCLUSIONS:Largedifferencesinsurvivalwereobservedrelativetodifferentmutationsandbetweenmutationswithsimilarphenotypes.Excellentsurvivalwasnote...
