脂肪营养不良综合征教学教材课件

脂肪营养不良综合征脂肪营养不良综合征

definitionandClassificationdefinition

Aheterogeneousgroupofcongenitaloracquireddisorderscharacterizedbyeithercompleteorpartiallackofadiposetissue，whichmayoccurinconjunctionwithpathologicalaccumulationoffatinotherdistinctregionsofthebody，Belongedtotheautonomicnervoussystemdiseases

definitiondefinitionclassification

congenitalgeneralizedlipodystrophy(CGL)acquiredgeneralizedlipodystrophy(AGL)acquiredpartiallipodystrophy(APL)familialpartiallipodystrophy(FPL)HAART-associatedlipodystrophysyndromeclassificationcongenitalgene

CGL(先天性全身脂肪营养不良),orBerardinelli-Seipsyndrome（伯拉迪尼-塞普综合征）,isanautosomalrecessive常染色体隐性遗传disordercharacterizedbyageneralizedlackofadiposetissueatbirthorshortlythereafter(withinthefirstyearoflife),andisaccompaniedbyprominentmuscularityandsubcutaneousveins.

CongenitalGeneralizedLipodystrophyCongenitalGeneralizedLInearlychildhood,patientswithCGLmayexhibithyperphagia食欲过盛(possiblyamanifestationofunderlyingleptindeficiency),acceleratedlineargrowth,advancedboneage骨龄超前,oracromegaloidfeatures(enlargedhands,feet,andmandible),whilelaterinchildhood,acanthosisnigricans黑棘皮症candevelopandbecomewidespread.Hyperinsulinemiaandhypertriglyceridemia高胰岛素血症和高甘油三酯血症canoccuratanearlyage,withketosis-resistantdiabetesmellitus酮症性糖尿病usuallydevelopinglaterinadolescence.

CongenitalGeneralizedLipodystrophyInearlychildhood,patieHepatomegalyfromseverehepaticsteatosisiscommonandcanprogresstosteatohepatitis脂肪性肝炎,cirrhosis,andliverfailure.femaleswithCGLmayhavehirsutism,clitoromegaly,irregularmenstrualperiods,polycysticovaries,and/orinfertility.Thereareatleastthreekindsofdisease-causinggenes,clinicallydividedintothreesubtypes:CGL1,CGL2,CGL3.95%ofCGLforthefirsttwosubtypes,andmutationsassociated基因突变AGPAT2andBSCL2.

CongenitalGeneralizedLipodystrophyHepatomegalyfromsevereh

CongenitalGeneralizedLipodystrophyCongenitalgeneralizedlipodystrophyinA,a6-month-oldinfantwithpromi-nentmuscularityandveins,B,a16-year-oldgirlwithacanthosisnigricansandumbilicalprominence,C,a15-year-oldboywithumbilicalprominenceandotherwisenormalappearingmuscularhabitus.

CongenitalGeneralizedLipodyAGL(获得性全身脂肪营养不良),orLawrencesyndrome(劳伦斯综合征),incontrasttoCGL,patientswithAGLarebornwithnormalfatdistributionbutlosefatinageneralizedfashion,typicallystartinginchildhoodoradolescence(rarelybeginningafter30yearsofage)

acquiredgeneralizedlipodystrophyAGL(获得性全身脂肪营养不良),orLawrProgressivefatlossusuallyoccursoveraperiodofmonthstoyears,orasrapidasafewweeksforsomepatients,andaffectslargeareasofthebody,especiallythefaceandextremities(includingthepalmsandsoles).Intra-abdominalfatlossisvari-able,andtheremaybesparingofbonemarrow骨髓andretroorbital眶后的fat.

acquiredgeneralizedlipodystrophyProgressivefatlossusual

Insomepatients,theonsetofAGLisheraldedbythedevelopmentofsubcutaneousinflammatorynodules皮下炎性结节(panniculitis);AGLoccursinapproximately3timesasmanywomenasmen.Inacaseseriesof79patients,AGLwasclassifiedintopanniculitis-associated脂膜炎(~25%ofcases),autoimmune自身免疫(~25%),andidiopathictypes特发性(~50%)onthebasisofclinicalfindings.Autoimmunediseases,especiallyjuveniledermatomyositis儿童皮肌炎andautoimmunehepatitis,occurcommonlywithAGL,suggestingthatAGLcouldrepresentanautoimmunediseaseitself,buttheincitingfactors(autoantigensoreffectormechanisms)remaintobeelucidated.

acquiredgeneralizedlipodystrophyInsomepatients,theonse

acquiredgeneralizedlipodystrophyAcquiredgeneralizedlipodystrophy(AGL)inA,a19-year-oldwoman,B,a9-year-oldgirlwithjuveniledermatomyositis.Somecommonfeaturesamongthe2casesincludelackofbodyfatandacanthosisnigricans,aswellasabdominalprotuberance.

acquiredgeneralizedlipodystForbothCGLandAGL,thepresentationofdiabetesinassociationwithclinicalevidenceofinsulinresistance胰岛素抵抗(e.g.,hightriglyceridelevels)inanonobesepediatricpatientshouldserveaskeydistinguishingfeaturesfromtype1diabetes.itisimportanttorecognizethatpatientswithallformsofgeneralizedlipodystrophycandevelopketoacidosis酮症酸中毒,especiallyunderseveremetabolicstress.

generalizedlipodystrophyForbothCGLandAGL,theFPL（家族性部分脂肪营养不良）ispredominantlyinheritedinanautosomaldominant常染色体显性遗传fashion.PatientswithFPLusuallyhavenormalbodyfatdistributionduringinfancyandearlychildhood,but,beginningaroundorafterpuberty青春期,typicallydevelopvariableandprogressivelossofsubcutaneousfatinthearmsandlegsresultinginaperipheralmuscularappearancewithvariablelossoffatintheanteriorabdomenandchest.

FamilialPartialLipodystrophyFPL（家族性部分脂肪营养不良）ispredomManypatients(especiallywomen)havefataccumulationintheface,neck,andintra-abdominalregion,whichmayleadtoaCushingoid类库欣appearance.

FamilialPartialLipodystrophyManypatients(especiallyDiabetesismorecommonandmoresevereinwomenthaninmen,particularlyamongmultiparouswomenwithexcessiveintra-abdominalfatdeposition.Mostaffectedwomenareabletoreproducenormally,althoughsomemaydevelophirsutism多毛andmenstrualirregularities.

FamilialPartialLipodystrophyDiabetesismorecommonaHypertriglyceridemiaisacommonfindinginFPLandcanbesevere,potentiallyleadingtoacutepancreatitis急性胰腺炎,whilehepaticsteatosisandacanthosisnigricans肝脂肪变性和黑棘皮病maybelessclinicallyimpressivethanthatoccurringinpatientswithgeneralizedformsoflipodystrophy.Finally,somepatientswithFPLmaydevelopmyopathy肌病,cardiomyopathy心肌病,and/orconductionsystemabnormalities传导系统障碍。

FamilialPartialLipodystrophyHypertriglyceridemiaisa

FamilialPartialLipodystrophyFamilialpartiallipodystrophyin2sisters.Bothpatientsareintheirearlythirties.Thepatientonthelefthasdiabetesmellitus,whilethepatientontherightisnondiabetic.Noteincreasedfataccumulationinthefaceandneck(A)withsubcutaneousfatlossandmuscularityinthearm(B).FamilialPartialLipodystrophAPL（获得性部分脂肪营养不良）ischaracterizedbyaprogressivelossofsubcutaneousfatovermonthstoyearsfromtheface,neck,arms,thorax,andupperabdomenduringchildhoodoradolescence.Somepatientsmayhaveexcessfataccumulationoverthelowerabdomen,glutealregion,andlegs.Metaboliccomplications代谢并发症arelesscommonwithAPLthanwithotherlipodystrophysubtypes亚型.

AcquiredPartialLipodystrophyAPL（获得性部分脂肪营养不良）ischarThemaincauseofmorbidityappearstobechronicrenaldisease(especiallymembranoproliferativeglomeru-lonephritis膜性增生性肾小球肾炎).APLhasalsobeenassociatedwithanumberofautoimmunediseases,includingdermatomyositis皮肌炎andsystemiclupuserythematosus系统性红斑狼疮.MostpatientswithAPLhavelowlevelsofserumcomplement3(C3)accompaniedbydetectablelevelsofacirculatingautoantibody自身抗体,C3nephriticfactor.APLisalsomorecommoninwomenthaninmen(estimated4:1ratio)

AcquiredPartialLipodystrophyThemaincauseofmorbidi

AcquiredPartialLipodystrophyAcquiredPartialLipodystrophHIVinfectioncanoccurinpatientsreceivinghighlyfatnutritionduringanti-retroviraltherapy(highlyactiveantiretroviraltherapy,HAART)高效抗反转录病毒治疗,especiallywhentheapplicationofHIV-1proteaseinhibitorpoorHIV-1蛋白酶抑制剂,theincidenceofupto40%to70%,isthemostcommontypeoflipodystrophy.HAART-associatedlipodystrophysyndromeHIVinfectioncanoccuriAlthoughHAARTsignificantlyreducedmortality病死率inpatientswithHIVinfection,butHAART-relatedlipodystrophy(HAART-associatedlipodystrophysyndrome,HALS)andsecondarymetabolismAIDStreatmenthasbecomethemostimportantadversereactions.HALSgeneralperformanceoftheface,extremities,buttocksfatatrophy,andlowerabdomen,neckandbackfataccumulation.

HAART-associatedlipodystrophysyndromeAlthoughHAARTsignificanRisksassociatedwithadvancedageHALSoccur,theseverityofHIVinfection,theviralloadincreases,whilelowCD4countandviralhepatitis-related.HALSincreasedtheincidenceofAIDSinpatientswithinsulinresistance,diabetes,dyslipidemiaandcardiovascular心血管疾病disease.TheexactpathogenesisofHALSisnotveryclear,mayberelatedtoproteaseinhibitors(proteaseinhibitors,PIs蛋白酶抑制剂)ofmitochondrialtoxicity线粒体毒性,andPIsalsobydown-regulationoffatcelltranscriptionfactor(PPARγandC/EBP-α)oftheexpressionoffatcelldifferentiation.

HAART-associatedlipodystrophysyndromeRisksassociatedwithadva

HAART-associatedlipodystrophysyndromeHAART-associatedlipodystroph

ClinicalFindingsoftheMajorLipodystrophySubtypesClinicalFindingsoftheMajo

ClinicalFindingsoftheMajorLipodystrophySubtypesClinicalFindingsoftheMajoClinicalCharacteristics

Inonestudyofover5000Dutchpatientswithdiabetesfrom3outpatientclinicswhere2screeningcriteriawereapplied(bodymassindex≤27kg/m2anduseof>100unitsofinsulin/day),12outof24patientsmeetingthesecriteriahadfurthercharacterization,5ofwhomwereeventuallydiagnosedwithFPL(3withconfirmedgeneticmutations基因突变).ClinicalCharacteristicsInClinicalCharacteristics

Althoughlipodystrophyisoftenaccompaniedbymetabolicabnormalities代谢障碍,notallpatientsmanifestthemonpresentation.Clinicallaboratorytesting(i.e.,bloodglucose,glycatedhemoglobin[HbA1c],triglyceridelevel甘油三酯,liverfunctionstudies肝功能,etc.)oninitialevaluationofthepatientwithsuspectedlipodystrophymaystillbeusefulforprovidingabaselinefromwhichtomonitordevelopmentoffuturemetabolicabnormalities(ifnotalreadypresent),andshouldbeconsideredthestandardofcare.ClinicalCharacteristicsAltDiagnosis1.calipermeasurements卡尺测量ofskinfoldthickness皮肤褶皱厚度maybehelpfultoquantifyorcharacterizefatloss.Approximately90%ofadultmenandwomenwillhaveskinfoldthicknessvalues≥10mmand≥22mm;lowerthicknessvaluesaresupportiveinformationforthediagnosisoflipodystrophy.2.Whenfatlossisnotvisiblyevidentbyphysicalmanifestations,hyperglycemia高血糖andhypertriglyceridemia高甘油三脂血症thatareresistantorunresponsivetoconventionaltreatmentmayserveastheonlyindicationtotheclinicianthatapatientmayhavelipodystrophy.Diagnosis1.calipermeasurementDiagnosis3.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)Diagnosis3.LipodystrophyistyTherapies1.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.Therapies1.lifestylemodificaTherapies3.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.FDAforthetreatmentofcertainmetabolicabnormalitiesassociatedwithlipodystrophy.Therapies3.Plasmapheresis血浆置换Therapies5.cosmetic美容managementofdisfigurements(fatloss,fatredistribution,andoutwardmanifestationsofinsulinresistance)thatcanseverelyimpactpatientself-imageandsenseofwell-being.6.Roux-en-Ygastricbypass空肠-胃旁路手术Therapies5.cosmetic美容Thankyou！Thankyou！此课件下载可自行编辑修改，仅供参考！

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definitionandClassificationdefinition

Aheterogeneousgroupofcongenitaloracquireddisorderscharacterizedbyeithercompleteorpartiallackofadiposetissue，whichmayoccurinconjunctionwithpathologicalaccumulationoffatinotherdistinctregionsofthebody，Belongedtotheautonomicnervoussystemdiseases

definitiondefinitionclassification

congenitalgeneralizedlipodystrophy(CGL)acquiredgeneralizedlipodystrophy(AGL)acquiredpartiallipodystrophy(APL)familialpartiallipodystrophy(FPL)HAART-associatedlipodystrophysyndromeclassificationcongenitalgene

CGL(先天性全身脂肪营养不良),orBerardinelli-Seipsyndrome（伯拉迪尼-塞普综合征）,isanautosomalrecessive常染色体隐性遗传disordercharacterizedbyageneralizedlackofadiposetissueatbirthorshortlythereafter(withinthefirstyearoflife),andisaccompaniedbyprominentmuscularityandsubcutaneousveins.

CongenitalGeneralizedLipodystrophyCongenitalGeneralizedLInearlychildhood,patientswithCGLmayexhibithyperphagia食欲过盛(possiblyamanifestationofunderlyingleptindeficiency),acceleratedlineargrowth,advancedboneage骨龄超前,oracromegaloidfeatures(enlargedhands,feet,andmandible),whilelaterinchildhood,acanthosisnigricans黑棘皮症candevelopandbecomewidespread.Hyperinsulinemiaandhypertriglyceridemia高胰岛素血症和高甘油三酯血症canoccuratanearlyage,withketosis-resistantdiabetesmellitus酮症性糖尿病usuallydevelopinglaterinadolescence.

CongenitalGeneralizedLipodystrophyInearlychildhood,patieHepatomegalyfromseverehepaticsteatosisiscommonandcanprogresstosteatohepatitis脂肪性肝炎,cirrhosis,andliverfailure.femaleswithCGLmayhavehirsutism,clitoromegaly,irregularmenstrualperiods,polycysticovaries,and/orinfertility.Thereareatleastthreekindsofdisease-causinggenes,clinicallydividedintothreesubtypes:CGL1,CGL2,CGL3.95%ofCGLforthefirsttwosubtypes,andmutationsassociated基因突变AGPAT2andBSCL2.

CongenitalGeneralizedLipodystrophyHepatomegalyfromsevereh

CongenitalGeneralizedLipodystrophyCongenitalgeneralizedlipodystrophyinA,a6-month-oldinfantwithpromi-nentmuscularityandveins,B,a16-year-oldgirlwithacanthosisnigricansandumbilicalprominence,C,a15-year-oldboywithumbilicalprominenceandotherwisenormalappearingmuscularhabitus.

CongenitalGeneralizedLipodyAGL(获得性全身脂肪营养不良),orLawrencesyndrome(劳伦斯综合征),incontrasttoCGL,patientswithAGLarebornwithnormalfatdistributionbutlosefatinageneralizedfashion,typicallystartinginchildhoodoradolescence(rarelybeginningafter30yearsofage)

acquiredgeneralizedlipodystrophyAGL(获得性全身脂肪营养不良),orLawrProgressivefatlossusuallyoccursoveraperiodofmonthstoyears,orasrapidasafewweeksforsomepatients,andaffectslargeareasofthebody,especiallythefaceandextremities(includingthepalmsandsoles).Intra-abdominalfatlossisvari-able,andtheremaybesparingofbonemarrow骨髓andretroorbital眶后的fat.

acquiredgeneralizedlipodystrophyProgressivefatlossusual

Insomepatients,theonsetofAGLisheraldedbythedevelopmentofsubcutaneousinflammatorynodules皮下炎性结节(panniculitis);AGLoccursinapproximately3timesasmanywomenasmen.Inacaseseriesof79patients,AGLwasclassifiedintopanniculitis-associated脂膜炎(~25%ofcases),autoimmune自身免疫(~25%),andidiopathictypes特发性(~50%)onthebasisofclinicalfindings.Autoimmunediseases,especiallyjuveniledermatomyositis儿童皮肌炎andautoimmunehepatitis,occurcommonlywithAGL,suggestingthatAGLcouldrepresentanautoimmunediseaseitself,buttheincitingfactors(autoantigensoreffectormechanisms)remaintobeelucidated.

acquiredgeneralizedlipodystrophyInsomepatients,theonse

acquiredgeneralizedlipodystrophyAcquiredgeneralizedlipodystrophy(AGL)inA,a19-year-oldwoman,B,a9-year-oldgirlwithjuveniledermatomyositis.Somecommonfeaturesamongthe2casesincludelackofbodyfatandacanthosisnigricans,aswellasabdominalprotuberance.

acquiredgeneralizedlipodystForbothCGLandAGL,thepresentationofdiabetesinassociationwithclinicalevidenceofinsulinresistance胰岛素抵抗(e.g.,hightriglyceridelevels)inanonobesepediatricpatientshouldserveaskeydistinguishingfeaturesfromtype1diabetes.itisimportanttorecognizethatpatientswithallformsofgeneralizedlipodystrophycandevelopketoacidosis酮症酸中毒,especiallyunderseveremetabolicstress.

generalizedlipodystrophyForbothCGLandAGL,theFPL（家族性部分脂肪营养不良）ispredominantlyinheritedinanautosomaldominant常染色体显性遗传fashion.PatientswithFPLusuallyhavenormalbodyfatdistributionduringinfancyandearlychildhood,but,beginningaroundorafterpuberty青春期,typicallydevelopvariableandprogressivelossofsubcutaneousfatinthearmsandlegsresultinginaperipheralmuscularappearancewithvariablelossoffatintheanteriorabdomenandchest.

FamilialPartialLipodystrophyFPL（家族性部分脂肪营养不良）ispredomManypatients(especiallywomen)havefataccumulationintheface,neck,andintra-abdominalregion,whichmayleadtoaCushingoid类库欣appearance.

FamilialPartialLipodystrophyManypatients(especiallyDiabetesismorecommonandmoresevereinwomenthaninmen,particularlyamongmultiparouswomenwithexcessiveintra-abdominalfatdeposition.Mostaffectedwomenareabletoreproducenormally,althoughsomemaydevelophirsutism多毛andmenstrualirregularities.

FamilialPartialLipodystrophyDiabetesismorecommonaHypertriglyceridemiaisacommonfindinginFPLandcanbesevere,potentiallyleadingtoacutepancreatitis急性胰腺炎,whilehepaticsteatosisandacanthosisnigricans肝脂肪变性和黑棘皮病maybelessclinicallyimpressivethanthatoccurringinpatientswithgeneralizedformsoflipodystrophy.Finally,somepatientswithFPLmaydevelopmyopathy肌病,cardiomyopathy心肌病,and/orconductionsystemabnormalities传导系统障碍。

FamilialPartialLipodystrophyHypertriglyceridemiaisa

FamilialPartialLipodystrophyFamilialpartiallipodystrophyin2sisters.Bothpatientsareintheirearlythirties.Thepatientonthelefthasdiabetesmellitus,whilethepatientontherightisnondiabetic.Noteincreasedfataccumulationinthefaceandneck(A)withsubcutaneousfatlossandmuscularityinthearm(B).FamilialPartialLipodystrophAPL（获得性部分脂肪营养不良）ischaracterizedbyaprogressivelossofsubcutaneousfatovermonthstoyearsfromtheface,neck,arms,thorax,andupperabdomenduringchildhoodoradolescence.Somepatientsmayhaveexcessfataccumulationoverthelowerabdomen,glutealregion,andlegs.Metaboliccomplications代谢并发症arelesscommonwithAPLthanwithotherlipodystrophysubtypes亚型.

AcquiredPartialLipodystrophyAPL（获得性部分脂肪营养不良）ischarThemaincauseofmorbidityappearstobechronicrenaldisease(especiallymembranoproliferativeglomeru-lonephritis膜性增生性肾小球肾炎).APLhasalsobeenassociatedwithanumberofautoimmunediseases,includingdermatomyositis皮肌炎andsystemiclupuserythematosus系统性红斑狼疮.MostpatientswithAPLhavelowlevelsofserumcomplement3(C3)accompaniedbydetectablelevelsofacirculatingautoantibody自身抗体,C3nephriticfactor.APLisalsomorecommoninwomenthaninmen(estimated4:1ratio)

AcquiredPartialLipodystrophyThemaincauseofmorbidi

AcquiredPartialLipodystrophyAcquiredPartialLipodystrophHIVinfectioncanoccurinpatientsreceivinghighlyfatnutritionduringanti-retroviraltherapy(highlyactiveantiretroviraltherapy,HAART)高效抗反转录病毒治疗,especiallywhentheapplicationofHIV-1proteaseinhibitorpoorHIV-1蛋白酶抑制剂,theincidenceofupto40%to70%,isthemostcommontypeoflipodystrophy.HAART-associatedlipodystrophysyndromeHIVinfectioncanoccuriAlthoughHAARTsignificantlyreducedmortality病死率inpatientswithHIVinfection,butHAART-relatedlipodystrophy(HAART-associatedlipodystrophysyndrome,HALS)andsecondarymetabolismAIDStreatmenthasbecomethemostimportantadversereactions.HALSgeneralperformanceoftheface,extremities,buttocksfatatrophy,andlowerabdomen,neckandbackfataccumulation.

HAART-associatedlipodystrophysyndromeAlthoughHAARTsignificanRisksassociatedwithadvancedageHALSoccur,theseverityofHIVinfection,theviralloadincreases,whilelowCD4countandviralhepatitis-related.HALSincreasedtheincidenceofAIDSinpatientswithinsulinresistance,diabetes,dyslipidemiaandcardiovascular心血管疾病disease.TheexactpathogenesisofHALSisnotveryclear,mayberelatedtoproteaseinhibitors(proteaseinhibitors,PIs蛋白酶抑制剂)ofmitochondrialtoxicity线粒体毒性,andPIsalsobydown-regulationoffatcelltranscriptionfactor(PPARγandC/EBP-α)oftheexpressionoffatcelldifferentiation.

HAART-associatedlipodystrophysyndromeRisksassociatedwithadva

HAART-associatedlipodystrophysyndromeHAART-associatedlipodystroph

ClinicalFindingsoftheMajorLipodystrophySubtypesClinicalFindingsoftheMajo

ClinicalFindingsoftheMajorLipodystrophySubtypesClinicalFindingsoftheMajoClinicalCharacteristics

Inonestudyofover5000Dutchpatientswithdiabetesfrom3outpatientclinicswhere2screeningcriteriawereapplied(bodymassindex≤27kg/m2anduseof>100unitsofinsulin/day),12outof24patientsmeetingthesecriteriahadfurthercharacterization,5ofwhomwereeventuallydiagnosedwithFPL(3withconfirmedgeneticmutations基因突变).ClinicalCharacteristicsInClinicalCharacteristics

Althoughlipodystrophyisoftenaccompaniedbymetabolicabnormalities代谢障碍,notallpatientsmanifestthemonpresentation.Clinicallaboratorytesting(i.e.,bloodglucose,glycatedhemoglobin[HbA1c],triglyceridelevel甘油三酯,liverfunctionstudies肝功能,etc.)oninitialevaluationofthepatientwithsuspectedlipodystrophymaystillbeusefulforprovidingabaselinefromwhichtomonitordevelopmentoffuturemetabolicabnormalities(ifnotalreadypresent),andshouldbeconsideredthestandardofcare.Cl