Ingabe imithambo yakho iyaphuka kalula? Ingabe isikhumba sakho sincane kakhulu? Masiqaphele i-Vascular Ehlers-Danlos Syndrome (vEDS) eyingozi!

Ingabe ngezinye izikhathi uthola ibala elikhulu eliluhlaza okwesibhakabhaka emzimbeni wakho ngisho nangemva kokuqhuma okuncane? Noma ingabe isikhumba sakho siba sincane kangangokuthi imithambo yakho iyabonakala? Lezi ngezinye izikhathi zingaba izimpawu zesifo esingavamile kodwa esibi kakhulu, yize ngezinye izikhathi singasinaki kakhulu. Namuhla sizokhuluma ngesifo esinjalo, isifo esenza buthaka izicubu zomzimba, ikakhulukazi imithambo yegazi. Lokhu kubizwa ngokuthi i-Vascular Ehlers-Danlos Syndrome , noma (vEDS) ngamafuphi. Nakuba lokhu kungase kubonakale kuyinkimbinkimbi kancane, masikuqonde kalula.

Iyini i-Ehlers-Danlos Syndrome (EDS)? Ingabe uhlobo lwemithambo yegazi luyingozi?

Kalula nje, i-Ehlers-Danlos Syndrome (EDS) iyiqembu lezifo zofuzo ezithinta izicubu ezixhumene emizimbeni yethu. Manje ungase uzibuze ukuthi yiziphi izicubu ezixhumene. Yizinto ezixhumanisa imizimba yethu futhi ziyinike amandla. Isibonelo, izinto ezifana nemisipha, imisipha, kanye ne-cartilage. Lezi yizona ezinika imizimba yethu isimo, amandla, kanye nokuguquguquka.

Kunezinhlobo ezingaba ngu-13 ze-EDS. I-vascular EDS (vEDS) esikhuluma ngayo namuhla uhlobo lwesine (`(Uhlobo IV)`). Lolu uhlobo olungavamile nolubi kakhulu kulezi zinhlobo ze-EDS. Abantu abanalesi simo banemithambo yegazi ebuthakathaka kakhulu, okungukuthi, imithambo yegazi ethwala igazi, kanye nezitho zangaphakathi ezingaphakathi kwayo (`(izitho zangaphakathi)`) ezibuthakathaka kakhulu futhi ezingalimala kalula. Kufana nengilazi encane, engaphuka ngisho nento encane kakhulu.

Ubani ongaba nalesi simo? Sivame kangakanani?

Ngenxa yokuthi lesi yisifo esibangelwa izakhi zofuzo , sivame ukutholwa njengefa kumzali oyedwa noma bobabili. Lokho kusho ukuthi sidluliselwa njengefa. Kodwa-ke, ngezinye izikhathi, noma ngabe akekho emndenini oke waba nalesi sifo ngaphambili, othile angasithola lesi sifo ngokuguquka okuzenzakalelayo kwalesi sakhi sofuzo.

I-EDS iyisifo esingavamile ngokuvamile. Sithinta cishe umuntu oyedwa kwabayi-5,000. Cabanga ukuthi lolu hlobo lwe-EDS (vEDS) lungavamile kangakanani. Sithinta cishe umuntu oyedwa kwabayi-200,000 noma abangu-250,000 . Ngakho-ke akumangazi ukuthi abantu abaningi abazi ngayo.

Lokhu kuthinta kanjani umzimba?

I-Vascular Ehlers-Danlos Syndrome (vEDS) yisimo esibangela ukuthi izicubu zomzimba, ikakhulukazi imithambo yegazi (imithambo yegazi) kanye nezitho zangaphakathi, zilahlekelwe amandla azo kanye nokunwebeka kwazo . Lokhu kungabangela ukuthi abantu baphuke kalula futhi babe nengozi enkulu yokopha ngaphakathi ngenxa yokulimala.

Cabanga ngakho, iqhubu elincane ekhanda aliyona into enkulu kumuntu ojwayelekile. Kodwa kumuntu onalesi simo, umthambo wegazi ngaphakathi ungaqhuma, noma udonga lungaqhekeka (ukuqhekeka kwemithambo). Kufana nepayipi elidala lerabha, elilungele ukuqhuma ngokucindezela okuncane kakhulu.

Ziyini izimpawu ze-Vascular EDS?

Nakuba izimpawu zalesi sifo zingahluka kumuntu nomuntu, kunezinye izimpawu ezivamile ezingabonakala. Ake sibheke ukuthi ziyini:

• Izinguquko zesikhumba:
• Isikhumba siba sincane kakhulu, sikhanye futhi sibe buthakathaka , okwenza imithambo emzimbeni ibonakale kahle.
• Isikhumba kwezinye izindawo, ikakhulukazi ezandleni nasezinyaweni, sibukeka sengathi siguga ngokushesha kunakwezinye.

• Izici zobuso ezihlukile:
• Izindebe nekhala labantu abanalesi sifo kungase kube mncane ngendlela engavamile .
• Isilevu esincane .
• Amehlo makhulu futhi ahlukene kancane .
• Abanye abantu banezinkophe ezimbalwa kakhulu, noma abanazo nhlobo .
• Ama-earlobes mancane kakhulu, noma cishe awakho nhlobo . Zombili izindlebe ziqhele kancane ekhanda futhi zingase zibonakale ziphuma phambili.

• Izinkinga zesistimu yokujikeleza kwegazi:
• Umzimba uyaphuka kalula . Ngisho noma ushayiswa yinto encane, uthola amabala amakhulu aluhlaza okwesibhakabhaka.
• Imithambo ye-Varicose ingavela esemncane kunokuvamile.
• Umfutho wegazi ophakeme (umfutho wegazi ophakeme) kanye nezinkinga ze-valve yenhliziyo (isib. i-mitral valve prolapse ) zivame kakhulu.
• Kukhona ingozi eyengeziwe yokulimala kwemithambo yegazi. Lokhu kufaka phakathi izinto ezifana nokususwa kwemithambo yegazi . Lokhu kungaholela ekuqhekekeni kwemithambo yegazi okuyingozi (ubuthakathaka bezindonga zemithambo yegazi kanye nokwanda kwemithambo yegazi) noma ukuqhekeka.

• Ubuthakathaka bezitho zangaphakathi:
• Kungaba nezinkinga eziyingozi, njengokuwa kwamaphaphu (i-pneumothorax) kanye nokuqhekeka kwezitho zangaphakathi, okuholela ekuphumeni kwegazi ngokweqile.

• Izinguquko zamathambo:
• Isifuba esicwile (i-pectus excavatum) singabonakala.
• Zingase zibe zifushane kunezivamile.

Kungani lesi simo senzeka? Iyini imbangela?

Sesishilo kakade ukuthi lesi yisifo sofuzo. Lokho kusho ukuthi kwenzeka ngenxa yokuguquka kwezakhi zofuzo (`(ukuguqulwa kwezakhi zofuzo)`) esakhiweni esiku-DNA yethu . Cabanga ngakho, i-DNA yethu ifana nencwadi yemiyalelo eyakha futhi ilawule umzimba. Amaseli ethu nezitho zomzimba zisebenza ngokwale ncwadi yemiyalelo. Ukuguquka kwezakhi zofuzo kufana nephutha kule ncwadi yemiyalelo. Kodwa umzimba ulandela leyo miyalelo engalungile noma kunjalo.

I-Vascular Ehlers-Danlos Syndrome (vEDS) ibangelwa ukuguquka kwezakhi zofuzo ezenza iphrotheni ebizwa ngokuthi i-collagen III . Ngokuvamile, imizimba yethu isebenzisa le-collagen III ukuqinisa izicubu nezakhiwo ezithile. Kodwa ngenxa yalokho kuguquka kwezakhi zofuzo, umzimba awukhiqizi i-collagen III eyanele, noma i-collagen III eyenziweyo inesici. Ngakho ayinikezi izicubu amandla eziwadingayo.

Ngenxa yokuthi kuyizakhi zofuzo, umuntu onalesi sifo angasidlulisela ezinganeni zakhe.Uma umzali oyedwa enalesi simo, kunethuba elingu-50% lokuthi ingane izolithola leli gciwane ngokukhulelwa ngakunye. Uma bobabili abazali benalesi simo, ingane inethuba elingu-100% lokuthola lesi sifo njengefa.

Ingabe lokhu kuyathelelana?

Cha. Lesi akusona isifo esingadluliselwa kusuka komunye umuntu siye komunye. Lokhu kuyinto ezuzwa njengefa ngokuphelele ngezakhi zofuzo.

Lesi sifo sitholakala kanjani?

Udokotela angase asole i-Vascular Ehlers-Danlos Syndrome (vEDS) ngokusekelwe emlandweni wakho wezokwelapha, ukuhlolwa ngokomzimba, izimpawu, nokuthi ngabe kukhona yini emndenini wakho onayo le nkinga. Uma lokho kusola sekuphakanyisiwe, kwenziwa ukuhlolwa kofuzo ukuqinisekisa noma ukuqeda ukuthi kungenzeka. Njengoba kunezinguquko ezimbili eziyinhloko zofuzo (ezitholakalayo njengamanje) ezibangela lesi simo, ukuhlolwa kofuzo kuyindlela kuphela yokwenza ukuxilongwa okuqondile.

Hlobo luni lokuhlolwa okwenziwayo?

Ngenxa yokuthi kuyisimo esingavamile kakhulu, odokotela bangenza ezinye izivivinyo eziningana ngaphambi kokuhlolwa kwezakhi zofuzo. Isibonelo, bangenza i-echocardiogram (ukuskena kwenhliziyo) noma i -CT scan . Lezi zivivinyo zenziwa kuqala ukuze kunqunywe ezinye izifo zegazi ezingabangela ukopha ngokweqile noma ukuklwebheka kalula. Kodwa-ke, ukuhlolwa kwezakhi zofuzo kuphela okunganquma ngokuqinisekile ukuthi une-Vascular Ehlers-Danlos Syndrome (vEDS).

Yiziphi izindlela zokwelapha? Ingabe ingelapheka?

I-Vascular EDS ayisona isifo esingelapheki. Yisimo sofuzo, okusho ukuthi sihlala isikhathi eside. Njengoba singelapheki, odokotela bagxila ekuphatheni izimpawu nasekunciphiseni umthelela wazo.

Uhlobo luni lomuthi/ukwelashwa olusetshenziswayo?

Abantu abane-vascular Ehlers-Danlos syndrome basengozini enkulu yokuthola ama-aneurysms (imithambo yegazi evuvukele) kanye nokopha kwangaphakathi okuyingozi ngenxa yokuqhekeka kwemithambo yegazi. Ngakho-ke, uma unalesi simo, uzodinga ukuhlolwa njalo kwezokwelapha ukuze uhlole ama-aneurysms. Kwezinye izimo, kungadingeka ukuhlinzwa ukuze kulungiswe ukulimala kwangaphakathi noma ama-aneurysms.

Lesi simo singadala nezinkinga ezinkulu, ngisho nezisongela ukuphila ngesikhathi sokukhulelwa, njengokuqhekeka kwesibeletho noma ukopha okukhulu.

Udokotela wakho ungumuntu ongcono kakhulu ongakhuluma naye ngemithi, ukwelashwa, kanye nokuhlinzwa ongakudinga. Angachaza konke ngokusekelwe esimweni sakho, isizinda sakho, kanye nemininingwane yokunakekelwa okudingayo.

Ingabe kukhona izinkinga ekwelashweni?

Ngenxa yokuthi izicubu zakho zibuthakathaka kakhulu ngenxa yalesi sifo, usengozini enkulu yokopha . Futhi, kungaba nzima ukululama ngemva kokuhlinzwa, kodwa lokhu kungenxa yobuthakathaka balezo zicubu. Udokotela wakho angachaza kangcono imiphumela emibi kanye nezingozi ongase ubhekane nazo.

Ngingazinakekela kanjani/ngiphatha kanjani izimpawu?

I-Vascular EDS yisimo esiyinkimbinkimbi esidinga ukubhekwa eduze kwezokwelapha kanye nokuvakashela odokotela njalo . Siyinkimbinkimbi kangangokuthi awukwazi ukuselapha noma ukusiphatha wedwa ngaphandle kosizo lukadokotela. Ngakho-ke, kubaluleke kakhulu ukulandela imiyalelo kadokotela wakho.

Ingabe ikhona indlela yokuvimbela lokhu?

Ngenxa yokuthi i-Vascular EDS iyisimo sofuzo, ayikho indlela yokusivimbela noma yokunciphisa ingozi yokusithola. Abantu abanalesi simo kufanele bakhulume nodokotela wabo mayelana nokwelulekwa ngofuzo uma behlela ukukhulelwa noma ukuba nezingane. Lokhu kuzobasiza baqonde ukuthi yini okufanele bayilindele uma ingane yabo ithola lesi simo njengefa.

Yini engingayilindela uma nginalesi simo? Siyini isimo sengqondo?

Abantu abane-Vascular EDS basengozini enkulu yezinkinga nezinkinga ezihlobene nokopha noma izicubu nezitho zangaphakathi ezibuthakathaka.

Iningi labantu abanalesi simo lizobhekana nenkinga eyodwa enkulu okungenani lapho lineminyaka engu-20. Lapho lineminyaka engu-40 , ingozi yokuthola izinkinga ezisongela ukuphila icishe ibe ngu-80% . Izibalo zibonisa ukuthi cishe ingxenye yabantu abanalesi sifo baphila iminyaka engu-48 .

Kodwa ungesabi ukuzwa lokhu. Ngoba ngokuthuthuka kwesayensi yezokwelapha, kuvela izindlela ezintsha zokuphatha lezi zimo, futhi abantu bayakwazi ukuphila impilo engcono kunangaphambili.

Lesi simo sizohlala isikhathi esingakanani?

I-Vascular EDS yisimo esikhona kusukela ekuzalweni futhi esihlala impilo yonke.

Kufanele ngizinakekele kanjani?

Abantu abane-Vascular EDS kufanele babone udokotela njalo ukuze aqaphe isimo sabo futhi ahlole noma yiziphi izinkinga ezintsha.

Futhi okunye,

• Kufanele ugweme imidlalo noma imisebenzi eyingozi .
• Kufanele ugweme ukuphakamisa izinsimbi noma eminye imisebenzi enobungozi obukhulu bokulimala.
• Kuwukuhlakanipha futhi ukugwema ukuhlinzwa okukhethwayo ngenxa yengozi eyengeziwe yokopha ngokweqile kanye nokulimala kwangaphakathi.

Kufanele ngimbone nini udokotela? / Kufanele ngifune nini ukwelashwa okuphuthumayo?

Bona udokotela wakho njalo njengoba kunconywa. Uzokutshela nokuthi kufanele umshayele ucingo noma umbone nini udokotela wakho, nokuthi yiziphi izimpawu okufanele uziqaphele.

Esimweni esiphuthumayo, lokho kusho ukuthi:

• Uma unalesi simo, kufanele ufune usizo lwezokwelapha oluphuthumayo ngokushesha uma uzwa ubuhlungu obukhulu ngaphandle kwesizathu esibonakalayo, ikakhulukazi esifubeni noma esiswini .
• Futhi, uma unesilonda sangaphandle esopha kakhulu noma siphuma amanzi , funa usizo lwezokwelapha oluphuthumayo ngokushesha.

Umyalezo Wokugcina Wokuya Nasekhaya

Kuyiqiniso ukuthi i-Vascular Ehlers-Danlos Syndrome (vEDS) iyisifo esiyinkimbinkimbi, esihambisana nofuzo. Sidinga ukuqapha nokunakekelwa kwezokwelapha okuseduze. Lokhu kungase kuzwakale kusabisa kuwe, kodwa khumbula ukuthi ngenxa yentuthuko kwezokwelapha nokuqonda lesi sifo, abantu abanalesi simo manje bangaphila impilo ende nengcono kunaseminyakeni edlule. Ngakho-ke, kubalulekile ukulandela iseluleko sikadokotela wakho futhi unakekele impilo yakho. Uma wena noma othile omaziyo enemibuzo ngalokhu, ungangabazi ukukhuluma nodokotela.

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