Ngaba imithambo yakho iyaphuka lula? Ngaba ulusu lwakho lubhityile kakhulu? Masiqaphele iVascular Ehlers-Danlos Syndrome (vEDS) eyingozi!

Ngaba ngamanye amaxesha ufumana ibala elikhulu eliluhlaza okwesibhakabhaka emzimbeni wakho nasemva kokuba uqhubu oluncinci? Okanye ngaba ulusu lwakho luba buthathaka kangangokuba imithambo yakho ibonakala? Ezi ngamanye amaxesha zinokuba ziimpawu zesifo esingaqhelekanga kodwa esinzima kakhulu, nangona ngamanye amaxesha singazinaki kangako. Namhlanje siza kuthetha ngesifo esinjalo, isifo esenza buthathaka izicubu zomzimba, ingakumbi imithambo yegazi. Oku kubizwa ngokuba yiVascular Ehlers-Danlos Syndrome , okanye (vEDS) ngamafutshane. Nangona oku kunokubonakala kunzima kancinci, masikuqonde ngokulula.

Yintoni i-Ehlers-Danlos Syndrome (EDS)? Ngaba uhlobo lwemithambo yegazi luyingozi?

Ngamafutshane, i-Ehlers-Danlos Syndrome (EDS) liqela lezifo zemfuza ezichaphazela izicubu ezinxibelelanayo emizimbeni yethu. Ngoku usenokuba uzibuza ukuba zeziphi izicubu ezinxibelelanayo. Zizinto ezidibanisa imizimba yethu kwaye ziyinike amandla. Umzekelo, izinto ezifana nemisipha, imisipha, kunye ne-cartilage. Ezi zezona zinika imizimba yethu imo, amandla, kunye nokuguquguquka.

Kukho malunga neentlobo ezili-13 ze-EDS. I-vascular EDS (vEDS) esithetha ngayo namhlanje luhlobo lwesine (`(Uhlobo IV)`). Olu lolona hlobo lunqabileyo nolunzima kwezi ntlobo ze-EDS. Abantu abanale meko banemithambo yegazi ebuthathaka kakhulu, oko kukuthi, imithambo yegazi ethwala igazi, kunye namalungu angaphakathi kuyo (`(amalungu angaphakathi)`) abuthathaka kakhulu kwaye anokonakala lula. Ifana neglasi ebhityileyo, enokwaphuka nokuba yinto encinci.

Ngubani onokufumana le meko? Ixhaphake kangakanani?

Ngenxa yokuba esi sisifo semfuza , sidla ngokuzuzwa njengelifa kumzali omnye okanye bobabini. Oko kuthetha ukuba sisifo semfuza. Nangona kunjalo, ngamanye amaxesha, nokuba akukho mntu kusapho lwakhe wakha waba nesi sifo ngaphambili, umntu unokufumana esi sifo ngokuguquka okuzenzekelayo kwesi sifo.

I-EDS sisifo esingaqhelekanga ngokubanzi. Sichaphazela umntu omnye kwabayi-5,000. Khawuthelekelele indlela olu hlobo lwe-EDS (vEDS) olungaqhelekanga ngayo. Sichaphazela umntu omnye kwabayi-200,000 okanye abangama-250,000 . Ngoko ke akumangalisi ukuba abantu abaninzi abazi ngayo.

Oku kuyichaphazela njani umzimba?

I-Vascular Ehlers-Danlos Syndrome (vEDS) yimeko ebangela ukuba izicubu zomzimba, ingakumbi imithambo yegazi (imithambo yegazi) kunye nezitho zangaphakathi, ziphelelwe ngamandla kwaye ziqine . Oku kunokubangela ukuba abantu bagruzuke lula kwaye babe nomngcipheko ophezulu wokopha ngaphakathi ngenxa yokwenzakala.

Cinga nje, iqhuma elincinci entlokweni aliyonto inkulu kumntu oqhelekileyo. Kodwa kumntu onesi sifo, umthambo wegazi ngaphakathi ungagqabhuka, okanye udonga luqhekeke (ukuqhekeka kwemithambo). Kufana nombhobho werabha omdala, olungele ukugqabhuka xa ucinezelekile kancinci.

Zithini iimpawu ze-Vascular EDS?

Nangona iimpawu zesi sifo zinokwahluka kumntu nomntu, kukho ezinye iimpawu eziqhelekileyo ezinokubonakala. Makhe sijonge ukuba zeziphi:

• Utshintsho lolusu:
• Ulusu luba buthathaka kakhulu, lukhanye, kwaye lube buthathaka , nto leyo eyenza imithambo yomzimba ibonakale ngokucacileyo.
• Ulusu kwezinye iindawo, ingakumbi ezandleni nasezinyaweni, lubonakala ngathi luguga ngokukhawuleza kunakwezinye.

• Iimpawu zobuso ezahlukileyo:
• Imilebe kunye nempumlo yabantu abanesi sifo zinokuba zincinci ngendlela engaqhelekanga .
• Isilevu esincinci .
• Amehlo makhulu kwaye ahlukanisiwe kancinci .
• Abanye abantu baneenkophe ezimbalwa kakhulu, okanye abanazo kwaphela .
• Iindlebe zincinci kakhulu, okanye azikho kwaphela . Zombini iindlebe zibekwe kancinci kude nentloko kwaye zinokubonakala ngathi ziphuma phambili.

• Iingxaki zenkqubo yokujikeleza kwegazi:
• Umzimba uyagruzuka lula . Nokuba ubethekelwe yinto encinci, ufumana amabala amakhulu aluhlaza okwesibhakabhaka.
• Imithambo ye-Varicose inokwenzeka xa umntu eselula kunesiqhelo.
• Uxinzelelo lwegazi oluphezulu (uxinzelelo lwegazi oluphezulu) kunye neengxaki zevalvu yentliziyo (umz. i-mitral valve prolapse ) zixhaphakile.
• Kukho umngcipheko okhulayo wokwenzakala kwemithambo yegazi. Oku kuquka izinto ezifana nokusikwa kwemithambo yegazi . Oku kunokukhokelela kwi -aneurysms eyingozi (ukuba buthathaka kweendonga zemithambo yegazi kunye nokwanda kwe-balloon) okanye ukuqhekeka.

• Ubuthathaka bezitho zangaphakathi:
• Iingxaki eziyingozi zinokwenzeka, njengokuwa kwemiphunga (i-pneumothorax) kunye nokuqhekeka kwamalungu angaphakathi, okubangela ukopha kakhulu.

• Utshintsho lwamathambo:
• Isifuba esitshonileyo (i-pectus excavatum) sinokubonakala.
• Zisenokuba zifutshane kuneziqhelekileyo.

Kutheni le meko isenzeka? Yintoni unobangela?

Sele sitshilo ukuba esi sisifo semfuza. Oko kuthetha ukuba kwenzeka ngenxa yokuguquka kwemfuza (`(ukuguqulwa kwemfuza)`) kwimfuza ekwiDNA yethu . Cinga ngayo, iDNA yethu ifana nencwadi yemiyalelo eyakha kwaye ilawule umzimba. Iiseli zethu kunye namalungu omzimba asebenza ngokwencwadi yemiyalelo. Ukuguqulwa kwemfuza kufana nempazamo kule ncwadi yemiyalelo. Kodwa umzimba ulandela loo myalelo ungachanekanga nangona kunjalo.

I-Vascular Ehlers-Danlos Syndrome (vEDS) ibangelwa kukuguquka kwejini eyenza iproteni ebizwa ngokuba yi -collagen III . Ngokwesiqhelo, imizimba yethu isebenzisa le collagen III ukuqinisa izicubu ezithile kunye nezakhiwo. Kodwa ngenxa yolo tshintsho lwejini, nokuba umzimba awuvelisi i-collagen III eyaneleyo, okanye i-collagen III eyenziweyo inesiphene. Ngoko ke ayiziniki izicubu amandla eziwadingayo.

Ngenxa yokuba sisifo esidluliselwa kwimfuza, umntu onesi sifo unokusidlulisela kubantwana bakhe.Ukuba omnye umzali unale meko, kukho amathuba angama-50% okuba umntwana afumane le meko rhoqo xa ekhulelwe. Ukuba bobabini abazali banale meko, umntwana unethuba eliyi-100% lokufumana le meko njengelifa.

Ingaba oku kuyasulela?

Hayi. Esi asisosifo esinokudluliselwa komnye umntu siye komnye. Esi sisifo esizuzwa ngokupheleleyo ngemfuza.

Sifunyaniswa njani esi sifo?

Ugqirha unokurhanela ukuba iVascular Ehlers-Danlos Syndrome (vEDS) ibangelwa yimbali yakho yezonyango, uvavanyo lomzimba, iimpawu, nokuba kukho nabani na kusapho lwakho onayo le meko. Nje ukuba loo ngxaki iphakanyisiwe, uvavanyo lofuzo lwenziwa ukuqinisekisa okanye ukuthintela ukuba kungenzeka. Ekubeni kukho utshintsho olukhulu lwemfuza (oluchongiweyo okwangoku) olubangela le meko, uvavanyo lofuzo lolona kuphela indlela yokwenza uxilongo oluchanekileyo.

Luhlobo luni lovavanyo oluqhutywayo?

Ngenxa yokuba sisifo esingaqhelekanga, oogqirha banokwenza ezinye iimvavanyo ezininzi ngaphambi kovavanyo lwemfuza. Umzekelo, banokwenza i-echocardiogram (i-scan yentliziyo) okanye i -CT scan . Ezi mvavanyo zenziwa kuqala ukuze kuthintelwe ezinye iingxaki zegazi ezinokubangela ukopha kakhulu okanye ukukrweleka okulula. Nangona kunjalo, luvavanyo lwemfuza kuphela olunokumisela ngokuqinisekileyo ukuba unayo na iVascular Ehlers-Danlos Syndrome (vEDS).

Zithini iindlela zonyango? Ngaba zinokunyangeka?

I-Vascular EDS ayisosifo esinokunyangeka. Yimeko yemfuza, oko kuthetha ukuba iyenzeka ubomi bonke. Ekubeni ingenakunyangeka, oogqirha bagxila ekulawuleni iimpawu kunye nokunciphisa impembelelo yazo.

Loluphi uhlobo lonyango/unyango olusetyenziswayo?

Abantu abane-vascular Ehlers-Danlos syndrome basengozini enkulu yokuba ne -aneurysms (imithambo yegazi evuvukileyo) kunye nokopha okuyingozi ngaphakathi ngenxa yokuqhekeka kwemithambo yegazi. Ke ngoko, ukuba unale meko, kuya kufuneka uhlolwe rhoqo ngugqirha ukuze ujonge i-aneurysms. Kwezinye iimeko, kunokufuneka utyando ukuze kulungiswe ukwenzakala kwangaphakathi okanye i-aneurysms.

Le meko inokubangela iingxaki ezinzulu, ezisongela ubomi ngexesha lokukhulelwa, ezifana nokuqhekeka kwesibeleko okanye ukopha kakhulu.

Ugqirha wakho ngumntu ongcono onokuthetha naye malunga namayeza, unyango, kunye notyando onokulufuna. Angachaza yonke into ngokusekelwe kwimeko yakho, imvelaphi yakho, kunye neenkcukacha zonyango olufunayo.

Ngaba kukho naziphi na iingxaki kunyango?

Ngenxa yokuba izicwili zakho zibuthathaka kakhulu ngenxa yesi sifo, usemngciphekweni omkhulu wokopha . Kwakhona, kunokuba nzima ukuphola emva kotyando, kodwa oku kungenxa yobuthathaka bezo zicwili. Ugqirha wakho unokuchaza ngcono iziphumo ebezingalindelekanga kunye neengozi onokuthi uzifumane.

Ndingazinyamekela njani/ndizilawula njani iimpawu?

I-Vascular EDS yimeko enzima efuna ukubekwa esweni ngokusondeleyo kwezonyango kunye nokutyelela oogqirha rhoqo . Inzima kangangokuba awunakukwazi ukuyinyanga okanye ukuyilawula wedwa ngaphandle koncedo lukagqirha. Kungoko ke, kubaluleke kakhulu ukulandela imiyalelo kagqirha wakho.

Ngaba ikho indlela yokuthintela oku?

Ngenxa yokuba i-Vascular EDS yimeko yemfuza, akukho ndlela yokuyithintela okanye yokunciphisa umngcipheko wokuba nayo. Abantu abanale meko kufuneka bathethe nogqirha wabo malunga neengcebiso zemfuza ukuba baceba ukukhulelwa okanye ukuba nabantwana. Oku kuya kubanceda baqonde ukuba balindele ntoni ukuba umntwana wabo uzuze esi sifo njengelifa.

Ndingalindela ntoni ukuba ndinayo le meko? Injani imbono yam?

Abantu abane-Vascular EDS basengozini enkulu yokufumana iingxaki kunye neengxaki ezinxulumene nokopha okanye ubuthathaka bezicubu zangaphakathi kunye namalungu omzimba.

Uninzi lwabantu abanale meko baya kuba nengxaki enkulu ubuncinane enye xa beneminyaka engama-20 ubudala. Xa beneminyaka engama-40 ubudala , umngcipheko wokufumana iingxaki ezisongela ubomi umalunga nama-80% . Izibalo zibonisa ukuba malunga nesiqingatha sabantu abanale sifo baphila iminyaka engama-48 ubudala .

Kodwa ungoyiki ukuva oku. Kuba ngokuhambela phambili kwesayensi yezonyango, kuvela iindlela ezintsha zokulawula ezi meko, kwaye abantu bayakwazi ukuphila ubomi obungcono kunangaphambili.

Le meko iza kuhlala ixesha elingakanani?

I-Vascular EDS yimeko ekhoyo ukususela ekuzalweni kwaye ihlala ubomi bonke.

Ndingazinyamekela njani?

Abantu abane-Vascular EDS kufuneka babonane nogqirha rhoqo ukuze bajonge imeko yabo baze bajonge naziphi na iingxaki ezintsha.

Kwaye kwakhona,

• Ufanele uphephe imidlalo okanye imisebenzi eyingozi .
• Ufanele ukuphephe ukuphakamisa iintsimbi okanye eminye imisebenzi enokuba yingozi enkulu yokwenzakala.
• Kukwabubulumko ukuphepha utyando olukhethwayo ngenxa yomngcipheko ophezulu wokopha kakhulu kunye nokwenzakala ngaphakathi.

Ndifanele ndimbone nini ugqirha? / Ndifanele ndifune nini unyango olungxamisekileyo?

Bona ugqirha wakho rhoqo njengoko kucetyisiwe. Uza kukuxelela nokuba kufuneka umfowunele okanye umfowunele nini ugqirha wakho, kwaye ukuba kukho naziphi na iimpawu onazo.

Kwimeko engxamisekileyo, oko kuthetha ukuba:

• Ukuba unale meko, kufuneka ufune uncedo lwezonyango ngokukhawuleza ukuba ufumana iintlungu eziqatha ngaphandle kwesizathu esicacileyo, ingakumbi esifubeni okanye esiswini .
• Kwakhona, ukuba unenxeba langaphandle elopha kakhulu okanye eliphuma amanzi , funa uncedo lwezonyango ngokukhawuleza.

Umyalezo Wokugqibela Wokuya Ekhaya

Liyinyaniso elokuba iVascular Ehlers-Danlos Syndrome (vEDS) sisifo esintsonkothileyo, esibangelwa lufuzo. Sifuna ukubekwa esweni ngokusondeleyo kwezonyango kunye nokhathalelo. Oku kunokuvakala kusoyikisa kuwe, kodwa khumbula ukuba ngenxa yokuqhubela phambili kwezonyango kunye nokuqonda esi sifo, abantu abanale meko ngoku banokuphila ubomi obude nobungcono kunangaphambili. Ke ngoko, kubalulekile ukulandela icebiso likagqirha wakho kwaye unyamekele impilo yakho. Ukuba wena okanye umntu omaziyo unemibuzo malunga noku, ungathandabuzi ukuthetha nogqirha.

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