Fabry Disease: Symptoms, Causes, Diagnosis, Treatment ...

Without functioning alpha-GAL enzymes, harmful levels of sphingolipids build up in blood vessels and tissues. Fabry disease affects the heart, ... ThinkyoumayhaveCOVID-19? Findoutwhereyoucangettested Needavaccineorbooster? Scheduletoday ComingtoaClevelandCliniclocation? Visitationandmaskrequirements Home / HealthLibrary / Disease&Conditions FabryDisease PeoplewhohaveFabrydiseasedon’thavetheenzymesthatbreakdownlipidsorfats.Thesefatscollectinbloodvesselsandtissue,raisingtheriskofheartattack,strokeandkidneyfailure.Thisgeneticconditionispassedfromparenttochild.Enzymereplacementandoralchaperonetherapycanhelppreventseriouscomplications. Appointments&Access ContactUs Overview SymptomsandCauses DiagnosisandTests ManagementandTreatment Prevention Outlook/Prognosis LivingWith FabryDisease Overview SymptomsandCauses DiagnosisandTests ManagementandTreatment Prevention Outlook/Prognosis LivingWith BackToTop Overview WhatisFabrydisease? PeoplewhohaveFabrydiseasedon’tproduceenoughhealthyversionsofanenzyme(bloodchemical)calledalpha-galactosidaseA(alpha-GAL).Theseenzymespreventsphingolipids,afat-likesubstance,fromcollectinginbloodvesselsandtissue. Withoutfunctioningalpha-GALenzymes,harmfullevelsofsphingolipidsbuildupinbloodvesselsandtissues.Fabrydiseaseaffectstheheart,kidneys,brain,centralnervoussystemandskin.Itisaninheritedconditionpassedfromparenttochild.It’ssometimescalledAnderson-Fabrydisease. WhatarethetypesofFabrydisease? ThetypesofFabrydiseasereflectaperson’sagewhensymptomsfirstappear.Typesinclude: Classictype:SymptomsofclassicFabrydiseaseappearduringchildhoodortheteenageyears.Onehallmarkdiseasesymptom—apainfulburningsensationinthehandsandfeet—maybenoticeableasearlyasagetwo.Symptomsgetprogressivelyworseovertime. Late-onset/atypicaltype:Peoplewithlate-onsetFabrydiseasedon’thavesymptomsuntilthey’reintheir30sorolder.Thefirstindicationofaproblemmaybekidneyfailureorheartdisease. HowcommonisFabrydisease? Approximatelyoneoutofevery40,000maleshasclassicFabrydisease.Late-onsetoratypicalFabrydiseaseismorecommon.Itaffectsaboutoneinevery1,500to4,000males. Expertsaren’tsurehowmanyfemaleshaveFabrydisease.Somefemalesdon’thavesymptomsorhavemild,easy-to-dismisssymptoms,sotheconditionfrequentlygoesundiagnosedinwomen. SymptomsandCauses WhatcausesFabrydisease? Childreninheritamutation(change)inthegalactosidasealpha(GLA)geneontheXchromosomefromaparent.TheGLAgeneproducesthealpha-GALenzymethathelpsbreakdownfattysubstances(sphingolipids).PeoplewhoinheritadefectiveGLAgenedon’tproduceenoughalpha-GALenzyme.Asaresult,fattysubstancesbuildupinbloodvessels. WhomightgetFabrydisease? PeoplewithFabrydiseaseinheritamutatedgeneontheXchromosomefromaparent.MalesinheritoneXchromosomefromtheirmothers.FemaleshavetwoXchromosomes,onefromeachparent. AparentcanpassonthefaultygenethatcausesFabrydiseasetoachildindifferentways: FatherspasstheirXchromosomewiththefaultygenetoalloftheirdaughters.AllofthesedaughterswillhavethegenemutationthatcausesFabrydisease.Sonsaren’tatriskbecausemalesgettheYchromosomefromtheirfathers(nottheXchromosome). Mothershavea50%chanceofpassingtheiraffectedXchromosometotheirdaughtersorsons.Somefamilymemberscanhavethegenemutationwhileothersdon’t. WhatarethesymptomsofFabrydisease? SymptomsofFabrydiseasevarydependingonthetype.Somesymptomsaremildandmightnotappearuntillaterinlife.Malestendtohavemoreseveresymptomsthanfemales.Fabrydiseasesymptomsinclude: Numbness,tingling,burningorpaininthehandsorfeet. Extremepainduringphysicalactivity. Heatorcoldintolerance. Abnormalopacityoftheeye(cornea),whichdoesnotchangesomeone’svision. Dizziness. Flu-likesymptoms,includingfatigue,feverandbodyaches. Gastrointestinalproblems,suchasdiarrhea,constipationandabdominalpain. Hearinglossorringinginears(tinnitus). Highlevelsofproteininurine(proteinuria). Raisedredorpurplishskinlesions(angiokeratoma)onyourchest,backandinthegenitalarea. Sweatingless(hypohidrosis)ornotatall(anhidrosis). Swelling(edema)inthelegs,anklesorfeet. DiagnosisandTests HowisFabrydiseasediagnosed? YourhealthcareprovidermayorderteststodiagnoseFabrydisease,including: Enzymeassay:Thistestmeasuresalpha-GALenzymesinblood.Measurementsof1%orlowerindicatedisease.Thistestismostreliableformalesandshouldnotbeusedinfemales. Genetic:BecausefemaleswithFabrydiseasecanhavenormallevelsofalpha-GALenzymes,providersusegenetictesting(DNAsequencing)toidentifytheGLAgenemutation. Newbornscreenings:SomestatestestnewbornsforFabrydiseaseandotherlysosomalstoragedisorders.Theenzymetestisincludedaspartofroutinenewbornscreenings. ManagementandTreatment HowisFabrydiseasemanagedortreated? Thereisn’tacureforFabrydisease.Medicationsforpainandstomachproblemscaneasesymptoms.Therearetwotreatmentsthatmayslowdownthebuildupofthefattysubstanceswiththegoaltopreventheartproblems,kidneydiseaseandotherlife-threateningcomplications: Enzymereplacementtherapy:Everytwoweeks,youreceiveanintravenous(IV)infusionoflab-madeagalsidasebetaenzyme(Fabrazyme®).Thisreplacementenzymedoestheworkofthemissingalpha-GALenzymesothatfattysubstancesdon’tbuildup.Youmayreceiveanantihistamineandothermedicationsbeforetherapytopreventanallergicreaction. Oralchaperonetherapy:Chaperonesaresmallmoleculesthatrepairfaultyalpha-GALenzyme.Themendedenzymescanthenbreakdownthefattysubstance.Withthistherapy,youtakeapill(migalastat[Galafold®])everyotherdaytostabilizethefaultyalpha-GALenzyme.NoteveryonewithFabrydiseasecanbetreatedwiththismedication.ItdependsonyourspecificgeneticmutationintheGLAgeneifyouareeligibleforthistreatment. Researchersareactivelydevelopingseveralnewtherapiesusinggeneticengineeringandstemcelltechnologies. WhatarethecomplicationsofFabrydisease? Yearsofbuildupofthefattysubstancecandamagebloodvesselsandleadtolife-threateningproblems,suchas: Heartproblems,includingarrhythmia,heartattacks,enlargedheartandheartfailure. Kidneyfailure. Nervedamage(peripheralneuropathy). Strokes,includingtransientischemicattacks(TIAorministrokes). Prevention HowcanIpreventFabrydisease? Fabrydiseaseisinherited.IfyoucarrythemutatedgenethatcausesFabrydisease,talktoageneticcounselor.Thisspecialistcanexplainthechancesofpassingthegenetoyourchildrenanddiscussoptions.Forinstance,aprocesscalledpreimplantationgeneticdiagnosis(PGD)identifiesembryosthatdon’tcarrythemutatedgene.Yourdoctorimplantshealthyembryosduringinvitrofertilization(IVF).PGDensuresyourchildwon’thavethemutatedgeneorgetFabrydisease. Outlook/Prognosis Whatistheprognosis(outlook)forpeoplewithFabrydisease? Fabrydiseaseisaprogressivedisease.Symptoms,andtheriskofseriouscomplications,worsenwithage.PeoplewithFabrydiseasehaveahigherriskoflife-threateningproblemsthatcanshortenlifeexpectancy.Onaverage,maleswithclassicFabrydiseasetendtolivetotheirlate50s.Femaleswiththediseaseoftenliveintotheir70s.Youmayaddyearstoyourlifebygettingappropriatecareforheartandkidneydiseaseandtakingstepstoreducestrokes. LivingWith WhenshouldIcallthedoctor? YoushouldcallyourhealthcareproviderifyouhaveFabrydiseaseandexperience: Chestpain,irregularheartbeat,shortnessofbreathorsignsofheartattack. Excessiveswellingorfluidretention. Extremedizziness,visionproblemsorsignsofstroke. Hearingloss. Severeabdominalpainordiarrhea. WhatquestionsshouldIaskmydoctor? Youmaywanttoaskyourhealthcareprovider: HowdidIgetFabrydisease? WhattypeofFabrydiseasedoIhave? Whatisthebesttreatmentforme? Whatarethetreatmentrisksandsideeffects? AremyfamilymembersatriskfordevelopingFabrydisease?Ifso,shouldwegetgenetictesting? WhattypeofongoingcaredoIneed? ShouldIlookoutforsignsofcomplications? AnotefromClevelandClinic Fabrydiseaseisaseriousgeneticdisorderthatcanleadtolife-threateningheartandkidneyproblems.It’saprogressivediseasethatworsensovertime.Symptomsmaydevelopduringchildhood(classictype)ormiddleadulthood(atypicaltype).Malestendtohavemoreseveresymptoms.Somefemaleshavemildsymptomsanddon’tknowtheyhavethedisease.IfyouhaveFabrydisease,talktoyourhealthcareprovideraboutwaystolowerstrokeriskandprotectyourheartandkidneys.Newertherapies,includingenzymereplacementandoralchaperonetreatment,canhelpyoumanagethediseaseandreducetheoddsofseriouscomplications. Share Facebook Twitter LinkedIn Email Print Getuseful,helpfulandrelevanthealth+wellnessinformation enews ClevelandClinicisanon-profitacademicmedicalcenter.Advertisingonoursitehelpssupportourmission.Wedonotendorsenon-ClevelandClinicproductsorservices. 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