自體免疫檢測選項
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醫療照護人員會根據患者可能罹患的特定疾病進行實驗室檢測,以協助診斷自體免疫疾病。
通常包括針對一種或多種自體抗體的血液檢測,以及針對發炎反應的檢測,如C 反應 ...
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AutoimmunityTestingOptions
AutoimmunityTestingOptions
Autoantibodiescanbespecificmarkersforautoimmune(AI)diseasesandareakeycomponentinthediagnosisofdiseaseswhichareoftenunderestimatedanddifficulttodetermine.
CriteriaandTestsfor
AutoimmuneDiseaseDiagnosis
Laboratorytestsperformedtoaidinthediagnosisofautoimmunedisordersdependontheparticulardisorder(s)thehealthcareprovidersuspectsapatienthas,butusuallyincludebloodtestsforoneormoreautoantibodiesaswellastestsforinflammationsuchasC-reactiveproteinlevels(CRP)andelevatederythrocytesedimentationrate(ESR).
Bloodtestingoptions
AntiphospholipidSyndrome
ExploreAntiphospholipidSyndromeLaboratoryTesting
Accordingtointernationalclassificationcriteria,identificationofAPSrequiresthepresenceofvascularthrombosisand/orpregnancymorbidity,alongwithatleastoneofthefollowingantiphospholipidantibodytests,whichareoftenperformedinparallel:1
LupusAnticoagulant(LA)
CardiolipinIgGand/orIgMantibodies
β2-glycoproteinI(β2-GPI)IgGand/orIgMantibodies1
ConnectiveTissueDisease
ExploreConnectiveTissueDiseaseLaboratoryTesting
Sjögren’ssyndrome
Accordingtothe2016AmericanCollegeofRheumatology/EuropeanLeagueAgainstRheumatismclassificationcriteriaforprimarySjögren’ssyndrome,individualswithsignsand/orsymptomssuggestiveofSjögren’ssyndromewhohaveatotalscoreof≥4fortheitemsbelowmeetthecriteriaforprimarySjögren’ssyndrome:2
Anti-SSA/Roantibodypositivityandfocallymphocyticsialadenitiswithafocusscoreof≥1foci/4 mm3,eachscoring3
AnabnormalOcularStainingScoreof≥5(orvanBijsterveldscoreof≥4)
ASchirmer’stestresultof≤5 mm/5 min
Anunstimulatedsalivaryflowrateof≤0.1 mL/min,eachscoring1
Systemiclupuserythematosus(SLE)
Accordingtothe1997Updateofthe1982AmericanCollegeofRheumatologyRevisedCriteriaforDiagnosisofSLE,fourof11followingcriteriashouldbefulfilledatthesametimeorinsuccession:4
Malarrash
Discoidrash
Photosensitivity
Oralulcers
Non-erosivearthritis
Pleuritisorpericarditis
Renaldisorder(proteinuria>0.5g/dayorcellularcasts)
Neurologicdisorder
Hematologicdisorder
Immunologicdisorder(anti-DNA/anti-Sm/LEcell/false-positiveSTS
APositiveANA:AnabnormaltitreofantinuclearantibodybyimmunofluorescenceORanequivalentassayatanypointintimeand(intheabsenceofdrugs)
Systemicsclerosis
Accordingtothe2013ACR/EULARclassificationcriteriaforSystemicSclerosis,patientswithatotalscoreof≥9areclassifiedashavingdefiniteSSc.5
Items
Sub-items
Score
SkinthickeningofthefingersofbothhandsextendingproximaltotheMCPjoints(sufficientcriteria)
--
9
Skinthickeningofthefingers
(onlycountthehighestscore)
Puffyfingers
Sclerodactylyofthefingers
2
4
Fingertiplesions
(onlycountthehighestscore)
Digitaltipulcers
Fingertippittingscars
2
3
Telangiectasia
--
2
Abnormalnailfoldcapillaries
--
2
Pulmonaryarterialhypertensionand/orinterstitiallungdisease
(maximumscoreis2)
Pulmonaryarterialhypertension
Interstitiallungdisease
2
2
Raynaud'sphenomenon
--
3
SSc-relatedantibodies
Anti-centromere
Anti-Scl-70
Anti-RNApolymeraseIII
3
--
--
Polymyositis/Dermatomyositis
Accordingtothe2017EULAR/ACRclassificationcriteriaforadultandjuvenileIdiopathicInflammatoryMyopathies(IMM)andtheirmajorsubgroups,includingpolymyositis/dermatomyositis,patientswithprobabilityabove55percent,whennobetterexplanationforthesymptomsorsignsexists,areclassifiedashavingIIM.6
Items
NoBiopsy
Biopsy
Ageofonsetoffirstrelatedsymptoms
18-40age≥40age
1.3
2.1
1.5
2.2
Muscleweakness
Objectivesymmetricweakness,usuallyprogressive,ofproximalupperextremities
Objectivesymmetricweakness,usuallyprogressive,ofproximallowerextremities
Neckflexorsarerelativelyweakerthanneckextensors
Inthelegs,proximalmusclesarerelativelyweakerthandistalmuscles
0.7
0.8
1.9
0.9
0.7
0.5
1.6
1.2
SkinManifestations
Heliotroperash
Gottron'spapules
Gottron'ssign
3.1
2.1
3.3
3.2
2.7
3.7
Otherclinicalmanifestations
Dysphagiaoresphagealdysmotility
0.7
0.6
Laboratorymeasurements
Anti-Jo1autoantibodypositivity
Elevatedserumlevel(aboveuppelimitofnormal)ofcreatinekinaseorlactatedehydrogenaseoraspartateaminotransferaseoralanineaminotransferase
3.9
1.3
3.8
1.4
Musclebiopsyfeatures
Endomysialinfiltrationofmononuclearcellssurrounding,butnotinvading,myofibres
Perimysialand/orperivascularinfiltrationofmononuclearcells
Perifascicularatrophy
Rimmedvacuoles
--
--
--
--
1.7
1.2
1.9
3.1
Mixedconnectivetissuedisease(MCTD)
ThereisoverlappingdiagnosticcriteriaforMCTDs.AcomparisonstudydeterminedthatMCTDwasbestidentifiedwiththeAlarcón-SegoviacriteriaandtheKahncriteria.7
TheAlarcón-Segoviadiagnosticcriteria:
Serologicalcriteriaandatleastthreeclinicalcriteria.
Iftheclinicalcriteria1,4,and5arepresent,then2or3arerequiredaswell.
Serologicalcriteria:
Apositiveanti-RNPatahemagglutinationtiterof1:1600orhigherANDatleastthreeofthefollowingfiveclinicalcriteria:
Edemaofthehands
Synovitis
Myositis
Raynaud’sphenomenon
Acrosclerosis
TheKahndiagnosticcriteria:
Serologicalcriteriaandclinicalcriteria.1
Atleasttwooftheotherclinicalcriteria.
Serologicalcriteria:
Ahightiterofanti-RNPcorrespondingtospeckledANAattiter1:2000orhigher.
Clinicalcriteria:
Raynaud’sphenomenon
Synovitis
Myositis
Swollenfinger
CeliacDisease
ExploreCeliacDiseaseLaboratoryTesting
Serologicaltestingcanhelpdifferentiatethisdiseaseandprovideanaccurate,expediteddiagnosis.Itmayhelptoconsidertestingwhenthereispresentationofgastrointestinal(GI)symptomsoranewdiagnosisforaconditionthatincreasestheriskforhavingCD.8
Internationalclassificationcriteriaadvocatesforserologictestingtohelpaidinthediagnosisofceliacdisease.TheEuropeanSocietyforPediatricGastroenterology,HepatologyandNutritionhaspublishedguidelinesforthediagnosisofceliacdiseaseforchildrenoradolescentswithotherwiseunexplainedsymptomsandsignssuggestiveofCD.9 Itstatesthatchildrenshouldbetestedfor:
ImmunoglobulinA(IgA)Transglutaminase(tTG)andtotalIgA,asthefirstchoice
DeamidatedGliadin(DGP-AGA)IgG,tTGIgG,orIgGEndomysialAntibodies(EMA)ifIgAisdeficient
IntheUK,theNationalInstituteforHealthandCareExcellenceencouragesyoungpeopleandadultstobetestedfor:10
tTGIgAandtotalIgAasthefirstchoice
IgAEMAiftTGIgAisweaklypositive
IgGdeamidatedgliadinpeptide,tTGIgG,orIgGEMAifIgAisdeficient
TheAmericanCollegeofGastroenterologyrecommendsthatadultsinwhomceliacdiseaseissuspectedbytestingaccordingtothefollowingalgorithms.3
×
SpecificLaboratoryTestingforCeliacDisease
tTGIgAtests&IgGtest-|DGPIgGtest-
Unlikely
Follow-upwithdifferentialdiagnosis
Diagnosis:CeliacDiseaselesslikely
×
SpecificLaboratoryTestingforCeliacDisease
tTGIgA+(<10xcutoff*)0-3additionalseriologicaltests+
Likely
Follow-upwithbiopsy
Results+
Results-
Diagnosis:CeliacDisease
Follow-upwithdifferentialdiagnosis
Therapy:Gluten-freeDiet
×
SpecificLaboratoryTestingforCeliacDisease
tTGIgA++(>10xcutoff*)0-3additionalseriologicaltests+
Verylikely
Diagnosis:CeliacDisease
Therapy:Gluten-freeDiet
×
SpecificLaboratoryTestingforCeliacDisease
tTGIgAtests-|tTGIgGtest+|DGPIgGtest+
Possible
CheckTotalIgA
IgAdeficiency
NoIgAdeficiency
Follow-upwithbiopsy
Unlikely
Results+
Results-
Follow-upwithdifferentialdiagnosis
Diagnosis:
CeliacDisease
Unlikely
Diagnosis:
CeliacDiseaselesslikely
Therapy:Gluten-freediet
Follow-upwithdifferentialdiagnosis
Diagnóstico:DoençaCelíaca
Diagnosis:Celiacdiseaselessikely
AdaptedfromHusby,etal2012,Werkstetteretal.,2017,andWorldHealthOrganization,2015.Pleasebeawarethatadditionalanalyticalparameterscanbenecessary.
Crohn’sDisease
ExploreCrohn’sDiseaseLaboratoryTesting
TestingtodifferentiateCrohn’sDisease(CrD)fromUlcerativeColitis(UC),bothmainIBDentities,canhelpyouchoosethemostappropriatetherapyforyourpatient.11Anti-SaccharomycesCerevisiaeAntibodies(ASCA)testing,incombinationwithPerinuclearAntineutrophilCytoplasmicAutoantibodies(pANCA),maybeusedtoaidindifferentialdiagnosisofCrDandUC,especiallyinIBD-unclassified(IBD-U)patients.12,13InmanyIBD-Upatients,pathologymakesendoscopicdifferentiationextremelydifficult.14,15
ThecombinationofpositivepANCAwithnegativeASCAisindicativeforUC,whereasthecombinationofpositiveASCAwithnegativepANCAisindicativeforCrohn´sdisease.16
UsingASCAandpANCAtohelpdifferentiateCrohn’sdiseaseandulcerativecolitis:16
×
SerologicalMarkersofInflammatoryBowelDisease
ReccurentGISymptoms
Clinicianrequestsdiagnostictestsasdeterminedbyhistory
Seriologicalmarkers,bloodcountandfecalcalprotectin
FecalCalprotectin
+Result
IBDmorelikely
ASCAIgA
IgGpANCA
ASCA+
pANCA -
ASCA-
pANCA +
CrDmorelikely
UCmorelikely
ReccurentGISymptoms
Clinicianrequestsdiagnostictestsasdeterminedbyhistory
Seriologicalmarkers,bloodcountandfecalcalprotectin
FecalCalprotectin
-Result
FBDmorelikely(includingIBS)
ThyroidDiseases
ExploreThyroidDiseasesLaboratoryTesting
ThefollowingalgorithmsmaybehelpfulindiagnosingAITDs,i.e.,autoimmunethyroiditisorHashimoto’sthyroiditisandGraves’disease.Gettingthesepatientstheappropriatediagnosisisveryimportant.ThepresenceofAITDs,especiallyHashimoto’sthyroiditis,increasestheriskforotherautoimmunediseasessuchasType1diabetesmellitusandAddison’sdisease.17,18Beawareofthislinkandconsidertestingyourpatientforotherautoimmunediseases,ifappropriate.
×
ThyroidDisordersIndicationforTesting
Clinic:Normalthyroidfunction(euthyroidism)orhypothyroidism
TSHincreased(>4.5mlU/L);T3andT4usuallydecreased
Sonography:struma,diffusehypoechogenicity(lowechodensity)
TPOAntibodies:70-90%positive
(TGAntibodies:35-60%positive)
SuggestedDiagnosis:
Auotimmunethyroiditis(Hashimoto'sthyroiditisorpossiblyatrophicform)
×
ThyroidDisordersIndicationforTesting
Clinic:Hyperthyroidism(possible:endocrineorbitopathy)
TSHdecreased(<0.01mlU/L);T3andT4usuallyincreased
Sonography:struma,diffusehypoechogenicity,increasedbloodcirculation
TSH-Rantibodies:upto100%positive
(TPOantibodies:45-80%; TGantibodies:~30%)
SuggestedDiagnosis:
Graves'Disease
RheumatoidArthritis
ExploreRheumatoidArthritisLaboratoryTesting
NumerousinternationalguidelinesrecommendRFIgMandanti-CCPasfirst-lineteststoaidinthediagnosisofrheumatoidarthritis.CCPantibodiesappearintheearlystagesofrheumatoiddisease.19,20
Internationalguidelinesclassificationcriteriaalsorecommendlaboratorytestingfor:
ErythrocyteSedimentationRate(ESR)
C-ReactiveProtein(CRP)
Manytestsmeasurerheumatoidfactor(RF)usingnephelometryorturbidometry.However,usinganRApanelthatcandistinguishbetweenthedifferentRFisotypes—RFIgAandRFIgMinparticular—cangiveyouimportantadditionaldiagnosticguidance.21-23
Vasculitis
ExploreVasculitisLaboratoryTesting
InternationalguidelinesrecommendpositiveserologyforANCAs.Thesediagnostictoolscanhelpyouidentifythediseaseandstartyourpatientsontheroadtotreatmentforgranulomatosiswithpolyangiitis(GPA),microscopicpolyangiitis(MPA),andeosinophilicgranulomatosiswithpolyangiitis(EGPA).24
Therevised2017internationalconsensusontestingofANCAsinGPAandMPAproposesthathigh-qualityimmunoassaysforMPOandPR3antibodiesshouldbeusedastheprimaryscreeningmethodforpatientssuspectedofhavingtheANCA-associatedvaculitidesGPAandMPAwithouttheneedforindirectimmunofluorescence(IIF).24
References
MiyakisS,LockshinMD,AtsumiT,etal.Internationalconsensusstatementonanupdateoftheclassificationcriteriafordefiniteantiphospholipidsyndrome(APS).JThrombHaemost. 2006;4(2):295-306.
ShiboskiCH,ShiboskiSC,SerorR,etal.2016AmericanCollegeofRheumatology/EuropeanLeagueAgainstRheumatismClassificationCriteriaforPrimarySjogren’sSyndrome. AnnRheumDis.2017;76(1):9-16.
GaubitzM. Epidemiologyofconnectivetissuedisorders. Rheumatology (Oxford). 2006;45(Suppl3):iii3-4.
AmericanCollegeofRheumatology.1997Updateofthe1982ACRCriteriafortheClassificationofSLE. http://www.rheumatology.org/Portals/0/Files/1997%20Update%20of%201982%20Revised.pdf.AccessedDecember2017.
vandenHoogenF.ClassificationCriteriaforSystemicSclerosis:AnACR-EULARCollaborativeInitiative ArthritisRheum.2013;65(11):2737-2747.
BottaiM,TjärnlundA,SantoniG,etal.EULAR/ACRClassificationcriteriaforadultandjuvenileidiopathicinflammatorymyopathiesandtheirmajorsubgroups:amethodologyreport. RMDOpen 2017;3:e000507.
JMAmigues,ACantagrel,MAbbal,etal.Comparativestudyof4diagnosiscriteriasetsformixedconnectivetissuediseaseinpatientswithanti-RNPantibodies.AutoimmunityGroupoftheHospitalsofToulouse. JofRheum.1997;(23)2055-62.
Rubio-TapiaA,HillID,KellyCP,etal.ACGClinicalGuidelines:DiagnosisandManagementofCeliacDisease. AmJGastroenterol. 2013;108:656-676.
HusbyS,KoletzkoS,Korponay-SzabóIR,etal. EuropeanSocietyforPediatricGastroenterology, Hepatology,andNutritionGuidelinesfortheDiagnosisofCoeliacDisease.JPediatr Gastroenterol Nutr. 2012;54:136-160.
NationalInstituteforHealthandCareExcellence.Coeliacdisease:recognition,assessmentandmanagement.https://www.nice.org.uk/guidance/ng20/resources/coeliac-disease-recognition-assessment-and-management-pdf-1837325178565.AccessedNovember2017.
KovácsM,MüllerKE,PappM,etal.Newserologicalmarkersinpediatricpatientswithinflammatoryboweldisease.WorldJGastroenterol.2014;20(17):4873-4882.
LevineA,KoletzkoS,TurnerD,etal.ESPGHANRevisedPortoCriteriafortheDiagnosisofInflammatoryBowelDiseaseinChildrenandadolescents.JPediatrGastroenterolNutr.14;58:795-806.
JoossensS,ReinischW,VermeireS,etal.Thevalueofserologicmarkersinindeterminatecolitis:aprospectivefollow-upstudy.Gastroenterology.2002;122:1242-1247.
BurakoffR.Indeterminatecolitis:clinicalspectrumofdisease.JClinGastroenterol.2004;38(5Suppl1):S41-S43.
BousvarosA,AntonioliDA,CollettiRB,etal.DifferentiatingulcerativecolitisfromCrohndiseaseinchildrenandyoungadults:reportofaworkinggroupoftheNorthAmericanSocietyforPediatricGastroenterology,Hepatology,andNutritionandtheCrohn’sandColitisFoundationofAmerica.JPediatrGastroenterolNutr.2007;44(5):653-674.
BossuytX.Serologicmarkersininflammatoryboweldisease.ClinChem.2006;52:2:171-181.
IddahMA,MachariaBN.Autoimmunethyroiddisorders. ISRNEndocrinol. 2013;2013:509764.
BoelaertK, NewbyPR, SimmondsMJ,etal.PrevalenceandRelativeRiskofOtherAutoimmuneDiseasesinSubjectswithAutoimmuneThyroidDisease.AmJMed.2010;123(2):183.e1-9.
SchellekensGA, VisserH, deJongBA, etal.Thediagnosticpropertiesofrheumatoidarthritisantibodiesrecognizingacycliccitrullinatedpeptide;ArthritisRheum. 2000;43(1):155-163.
BerglinE,PadyukovL,SundinU,etal.Acombinationofautoantibodiestocycliccitrullinatedpeptide(CCP)andHLA-DRB1locusantigensisstronglyassociatedwithfutureonsetofrheumatoidarthritis.ArthritisResTher.2004;6(4):R303-R308.
Bobbio-PallaviciniF,CaporaliR,AlpiniC,etal.HighIgArheumatoidfactorlevelsareassociatedwithpoorclinicalresponsetotumournecrosisfactorαinhibitorsinrheumatoidarthritis.AnnRheumDis.2007;66(3):302-307.
JónssonT,ValdimarssonH.Ismeasurementofrheumatoidfactorisotypesclinicallyuseful?AnnRheumDis.1993;52(2):161-164.
ShakibaY,KoopahS,JamshidiAR,etal.Anti-cycliccitrullinatedpeptideantibodyandrheumatoidfactorisotypesinIranianpatientswithrheumatoidarthritis:evaluationofclinicalvalueandassociationwithdiseaseactivity.IranJAllergyAsthmaImmunol.2014;13(3):147-156.
BossuytX,CohenTervaertJ-W,ArimuraY,etal.Revised2017internationalconsensusontestingofANCAsingranulomatosiswithpolyangiitisandmicroscopicpolyangiitis.NatureRevRheumatol.2017;doi:10.1038/nrrheum.2017.140
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