脂肪营养不良综合征.ppt

脂肪营养不良综合征,definitionandclassification,ClinicalFindingsoftheMajorLipodystrophySubtypes,ClinicalCharacteristics,structure,Diagnosis,Therapies,definitionandClassification,4,definition,classification,congenitalgeneralizedlipodystrophy(CGL),acquiredgeneralizedlipodystrophy(AGL),acquiredpartiallipodystrophy(APL),familialpartiallipodystrophy(FPL),HAART-associatedlipodystrophysyndrome,6,CongenitalGeneralizedLipodystrophy,7,CongenitalGeneralizedLipodystrophy,8,CongenitalGeneralizedLipodystrophy,CongenitalGeneralizedLipodystrophy,CongenitalgeneralizedlipodystrophyinA,a6-month-oldinfantwithpromi-nentmuscularityandveins,B,a16-year-oldgirlwithacanthosisnigricansandumbilicalprominence,C,a15-year-oldboywithumbilicalprominenceandotherwisenormalappearingmuscularhabitus.,10,acquiredgeneralizedlipodystrophy,11,acquiredgeneralizedlipodystrophy,12,acquiredgeneralizedlipodystrophy,13,acquiredgeneralizedlipodystrophy,Acquiredgeneralizedlipodystrophy(AGL)inA,a19-year-oldwoman,B,a9-year-oldgirlwithjuveniledermatomyositis.Somecommonfeaturesamongthe2casesincludelackofbodyfatandacanthosisnigricans,aswellasabdominalprotuberance.,14,generalizedlipodystrophy,15,FamilialPartialLipodystrophy,16,FamilialPartialLipodystrophy,17,FamilialPartialLipodystrophy,18,FamilialPartialLipodystrophy,19,FamilialPartialLipodystrophy,Familialpartiallipodystrophyin2sisters.Bothpatientsareintheirearlythirties.Thepatientonthelefthasdiabetesmellitus,whilethepatientontherightisnondiabetic.Noteincreasedfataccumulationinthefaceandneck(A)withsubcutaneousfatlossandmuscularityinthearm(B).,20,AcquiredPartialLipodystrophy,21,AcquiredPartialLipodystrophy,22,AcquiredPartialLipodystrophy,23,HAART-associatedlipodystrophysyndrome,24,HAART-associatedlipodystrophysyndrome,25,HAART-associatedlipodystrophysyndrome,26,HAART-associatedlipodystrophysyndrome,27,ClinicalFindingsoftheMajorLipodystrophySubtypes,28,ClinicalFindingsoftheMajorLipodystrophySubtypes,ClinicalCharacteristics,Inonestudyofover5000Dutchpatientswithdiabetesfrom3outpatientclinicswhere2screeningcriteriawereapplied(bodymassindex27kg/m2anduseof100unitsofinsulin/day),12outof24patientsmeetingthesecriteriahadfurthercharacterization,5ofwhomwereeventuallydiagnosedwithFPL(3withconfirmedgeneticmutations基因突变).,ClinicalCharacteristics,Althoughlipodystrophyisoftenaccompaniedbymetabolicabnormalities代谢障碍,notallpatientsmanifestthemonpresentation.Clinicallaboratorytesting(i.e.,bloodglucose,glycatedhemoglobinHbA1c,triglyceridelevel甘油三酯,liverfunctionstudies肝功能,etc.)oninitialevaluationofthepatientwithsuspectedlipodystrophymaystillbeusefulforprovidingabaselinefromwhichtomonitordevelopmentoffuturemetabolicabnormalities(ifnotalreadypresent),andshouldbeconsideredthestandardofcare.,Diagnosis,1.calipermeasurements卡尺测量ofskinfoldthickness皮肤褶皱厚度maybehelpfultoquantifyorcharacterizefatloss.Approximately90%ofadultmenandwomenwillhaveskinfoldthicknessvalues10mmand22mm;lowerthicknessvaluesaresupportiveinformationforthediagnosisoflipodystrophy.2.Whenfatlossisnotvisiblyevidentbyphysicalmanifestations,hyperglycemia高血糖andhypertriglyceridemia高甘油三脂血症thatareresistantorunresponsivetoconventionaltreatmentmayserveastheonlyindicationtotheclinicianthatapatientmayhavelipodystrophy.,Diagnosis,3.Lipodystrophyistypicallyaccompaniedbylow(orrelativelylow)levelsoftheadipocyte-secretedhormoneleptin.leptinlevelsmayprovideusefulsupportiveinformation,butarenotnecessaryorspecificforthediagnosisoflipodystrophy,aslowleptinlevelsmaybeobservedinotherconditions(e.g.,hypothalamicamenorrhea下丘脑性闭经andmalnutrition).4.lipodystrophymayalsopresentwithassociatedneuroendocrine神经内分泌andimmunologicalabnormalities免疫异常(e.g.,amenorrheaandarelativedeficiencyofTlymphocytepopulationsT淋巴细胞缺乏),Therapies,1.lifestylemodifications(dietandexercise)2.conventionalantihyperglycemicandlipid-loweringedicationsMetformin二甲双胍,sulfonylureas磺脲类,thiazolidinediones噻唑烷二酮,andinsulincanbeusedtomanagehyperglycemia,whilefibrates贝特类andstatins他汀类canbeusedtomanagehypertriglyceridemia.Wheremetabolicabnormalities代谢异常associatedwithlipodystrophyareparticularlysevere,conventionaltreatments,aloneorincombination,arelikelytobeinadequateatre-establishingmetaboliccontrol.,Therapies,3.Plasmapheresis血浆置换forloweringdangerouslyhightriglyceridelevelstocontrolpainfulxanthoma黄瘤andpreventpancreatitis胰腺炎.4.Leptinreplacementtherapy瘦素替代疗法sustainreductionsintriglyceride甘油三酯,totalcholesterol总胆固醇,andHbA1clevels.Metreleptin美曲普汀,ahumanleptinanalog,iscurrentlyunderreviewbytheU.S.FDAforthetreatmentofcertainmetabolicabnormalitiesassoc