Ingabe nawe uvame ukopha ekhaleni? Kungaba yi-HHT (Hereditary Hemorrhagic Telangiectasia)!

Ingabe uvame ukuphuma igazi ekhaleni? Noma ingabe uke waphawula amabala amancane abomvu kwezinye izingxenye zomzimba wakho, isibonelo, ebusweni bakho, ezindebeni, noma ezandleni zakho? Ngezinye izikhathi asicabangi ngalezi zinto njengezinto ezivamile, kodwa ngemuva kwazo kungase kube nesimo sezokwelapha esidinga ukunakwa. Yilokho i-HHT eyikho, kodwa abantu abaningi abazi ngakho. Namuhla sikhuluma ngale HHT, noma ngokwezokwelapha, `(Hereditary Hemorrhagic Telangiectasia)`, isifo esizuzwe njengefa. Abanye basibiza nangokuthi `(Osler-Weber-Rendu syndrome)`.

Iyini ngempela i-HHT?

Kalula nje, i-HHT yisifo sofuzo esithinta imithambo yegazi emizimbeni yethu. Uyazi, sinala mapayipi amancane athwala igazi emizimbeni yethu, esiwabiza ngokuthi imithambo yegazi. Kulesi simo, okwenzekayo ukuthi le mithambo yegazi, ikakhulukazi leyo emincane kakhulu ebizwa ngokuthi ama-capillary, ayikhuli kahle. Sibiza la ma-capillary akhiwe ngendlela engavamile ngokuthi "ama-telangiectasias".

Cabanga ngakho, sinemithambo emikhulu ethwala igazi lisuka enhliziyweni yethu liye emzimbeni wethu wonke, kanye nemithambo ethwala lelo gazi libuyele enhliziyweni. Ukuxhumana phakathi kwalezi ezimbili kwenziwa yilokho okubizwa ngokuthi ama-capillary. Ku-HHT, ngezinye izikhathi le mithambo kanye nemithambo ingaba nokuxhumana okungavamile ngqo, ngaphandle kokudlula kuma-capillary. Lokhu sikubiza ngokuthi ama-arteriovenous malformations, noma ama-AVM ngamafuphi.

Le mithambo yegazi engavamile ibuthakathaka kakhulu futhi ibuthakathaka. Ingaqhuma noma iqhume kalula, okubangela ukopha (ukopha). Izimpawu kanye nezinkinga kuncike ekutheni ukopha kwenzeka kuphi.

Ubani ongathuthukisa i-HHT?

Lesi simo esibizwa ngokuthi i-HHT singathinta abesifazane, amadoda, ngisho nezingane ezincane . Uhlanga, inkolo, kanye nombala wesikhumba akubalulekile kulokhu. Ngokuyinhloko ngoba sidluliselwa kusuka esizukulwaneni kuya kwesinye ngokusebenzisa izakhi zofuzo, uma othile emndenini enaso, abanye banethuba lokusithola.

Lokhu kubhekwa njengesimo esingavamile . Kodwa-ke, ngokuvamile akuhlolwa kahle. Lokhu kusho ukuthi, nakuba kulinganiselwa ukuthi cishe umuntu oyedwa kwabangu-5,000 emhlabeni wonke unesifo lesi, iningi labo alazi ukuthi linaso.

Yini ebangela i-HHT?

Njengoba ngishilo ekuqaleni, i-HHT iyisimo esibangelwa izakhi zofuzo ngokuphelele . Lokhu kusho ukuthi izuzwe njengefa kubazali kubantwana. Ibhekwa njengesifo esiyinhloko. Kalula nje, ingane ingahlakulela lesi sifo ngisho noma umzali oyedwa kuphela, umama noma ubaba, ezuza isakhi sofuzo esingavamile .

Ososayensi bathole amakhulu ezinguquko ezahlukene ezakhiweni eziyisithupha ezixhumene ne-HHT. Kodwa-ke, okwamanje, izinguquko ezivame kakhulu zisezakhini ezimbili ezibizwa ngokuthi i-ENG kanye ne-ACVRL1. Ososayensi basacwaninga ngalokhu.

Ziyini izimpawu ze-HHT?

Izimpawu ze-HHT zingahluka kakhulu kumuntu nomuntu. Kuya ngokuthi imithambo yegazi engajwayelekile engikhulume ngayo ikuphi emzimbeni. Abanye abantu bangase bangabi nazo izimpawu ezinkulu. Kodwa abanye bangase babe nezimpawu ezinzima kakhulu nezingathi sína.

Kodwa-ke, uphawu oluvame kakhulu kubantu abane-HHT ukuphuma kwegazi ekhaleni njalo (epistaxis) . Abanye abantu bangase babe nokopha igazi ekhaleni izikhathi eziningana ngosuku. Le nkinga kungenzeka ukuthi ibikhona kusukela ebuntwaneni.

Ngaphezu kwalokho, abanye abantu abane-HHT bangase babone amabala amancane abomvu (i-telangiectasias) emizimbeni yabo. Lawa angase abonakale eshintshe umbala kancane kuwe. Lawa avame ukubonwa ku:

• Ebusweni
• Eminweni noma ezinyaweni zeminwe
• Ezandleni
• Ngaphakathi komlomo (elulwelweni lwe-mucous)
• Ezindebeni
• Eduze kwempumulo

Ngaphezu kwalokhu, abanye abantu abane-HHT bangase babe nalokhu okulandelayo:

• I-anemia : Lokhu kusho ukuntuleka kwamaseli abomvu egazi emzimbeni. Lokhu kungenzeka ngenxa yokopha njalo.
• Ukopha okuvela esiswini noma emathunjini : Lokhu kungase kungabonakali, kodwa kungase kube negazi esitulweni noma isitulo singase sibe mnyama.

Ukukhubazeka Kwemithambo Yemithambo (ama-AVM) kanye nemiphumela yako

Abantu abane-HHT ngezinye izikhathi bangaba nama-aneurysms (ama-AVM) emithanjeni yegazi emikhulu. Lawa ma-AVM angakhula ikakhulukazi ezithweni ezifana namaphaphu, ubuchopho, umgogodla kanye nesibindi. Angabangela izimpawu ezahlukene ezihlobene nesitho ngasinye.

• Uma une-AVM emaphashini akho:
• Ukushintsha kombala wesikhumba okuluhlaza okwesibhakabhaka (ikakhulukazi izindebe, izinzipho)
• Ukukhwehlela igazi (i-hemoptysis)
• Ukuzizwa ukhathele ngokushesha
• Ubunzima bokuphefumula (ukuphelelwa umoya)
• Uma une-`(AVM)` ebuchosheni: Lezi yizo eziyingozi kakhulu. Ngoba uma enye yalezi `(AVM)` iqhuma ngaphakathi ebuchosheni, kuyingozi kakhulu.
• Isiyezi
• Umbono ophindwe kabili
• Ukuquleka
• Izimo ezifana nokuhlaselwa yisifo sohlangothi zingase zenzeke.
• Uma une-AVM yesibindi:
• Inhliziyo ingaba sesimweni "sokwehluleka kwenhliziyo" ngoba lapho igazi lidlula nge-"(AVM)" esibindini, inhliziyo kufanele isebenze kanzima ukuze inikeze igazi emzimbeni wonke.
• Uma une-AVM yomgogodla:
• Ukuhlungu obusemhlane
• Kungase kube nokungazweli noma ukulahlekelwa umuzwa ezandleni noma ezinyaweni.

Okubalulekile: Uma lawa ma-"(AVM)" eqhuma futhi opha igazi, kuyisimo esiphuthumayo esibucayi kakhulu. Ngakho-ke, uma unezinye zezimpawu ezishiwo ngenhla, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha.

Ingabe izingane zami nazo zingaba ne-HHT?

Yebo, uma une-HHT, ingane yakho ngayinye inethuba elingu-50% lokuthola lesi sifo njengefa.Yebo. Lokho kusho ukuthi njalo lapho kuzalwa ingane, kunethuba elingu-50% lokuthi ingane izokhula ibe ne-HHT kanye nethuba elingu-50% lokuthi ngeke ikhule. Kufana nokuphonsa uhlamvu lwemali bese uthola amakhanda noma imisila.

I-HHT ihlolwa kanjani?

Ukuhlolwa kofuzo kungenziwa ukuqinisekisa i-HHT. Kodwa ngokuvamile, odokotela bayixilonga ngokusekelwe kolwazi lwezokwelapha, njengezimpawu kanye nomlando womndeni. Uma ubona udokotela, bavame ukwenza okulandelayo:

• Bazokubuza imibuzo eningiliziwe mayelana nomlando wakho wezokwelapha (isib. ukuthi usunesikhathi esingakanani uphuma igazi ekhaleni, kangaki, nokuthi yiziphi ezinye izinkinga oye waba nazo).
• Buza ngomlando wezokwelapha womndeni wakho oseduze (abazali, izingane zakini, izingane) ngoba lokhu kwenzeka emindenini.
• Umzimba wakho uzohlolwa (ukuze kubonakale ukuthi kukhona yini amabala abomvu noma okunye okunjalo).
• Uma kudingeka, thumela izivivinyo (isib. izinhlobo ze-`(scan)`, `(Endoscopy)`) ukuze kuhlolwe isimo sezitho zangaphakathi .

Udokotela angase asole noma anqume ukuthi une-HHT uma okungenani unezimpawu ezintathu ezilandelayo:

• Ukopha igazi njalo.
• Ukuba khona kwama-telangiectasias amaningana ezindaweni lapho avame ukubonakala khona esikhumbeni (njengobuso, izindebe, iminwe).
• Ukuba khona kwe-"telangiectasias" noma "ama-AVM" ezithweni zangaphakathi (isib. amaphaphu, ubuchopho, isisu, amathumbu) (lokhu kutholakala kuphela ngokuhlolwa).
• Ukuba nelungu lomndeni eliseduze ne-HHT.

Yiziphi izindlela zokwelapha i-HHT?

Ngeshwa, ayikho ikhambi le-HHT. Kodwa-ke, kunezindlela zokwelapha ezingasiza ukulawula izimpawu, ukunciphisa izimpawu, nokunciphisa ingozi yezinkinga ezinkulu. Ososayensi basasebenza ukuthola izindlela zokwelapha ze-HHT, ikakhulukazi ngokuthuthukiswa kwezindlela zokwelapha ezilwa ne-angiogenic.

Ngesikhathi udokotela wakho elapha izimpawu ezikhona, uzohlola nanoma yiziphi izinkinga ezihlobene ne-HHT okungenzeka ukuthi azinazo izimpawu okwamanje.

Ukwelashwa kungafaka okulandelayo:

• Ukwelashwa nge-laser (`(Ablation)`): Ukuhlinzwa okuncane okusebenzisa imisebe ye-laser ukuvimba izindawo eziphuma igazi (i-telangiectasias) ezivame ukopha.
• Ukufakwa kwegazi: Inqubo encane yokuhlinzwa evimba umthambo wegazi oholela endaweni yokopha noma i-AVM esengozini yokopha.
• Ukwelashwa kwe-anemia: Ukunikeza amaphilisi ensimbi, kanye nokumnika igazi (ukumpontshelwa igazi) uma kudingeka.
• Ukulawula ukuphuma kwegazi ekhaleni: Sebenzisa imikhiqizo efana namafutha okugcoba kanye ne-saline spray ukuze ugcine ingaphakathi lekhala limanzi.
• Ukususa ama-AVM: Amanye ama-AVM angasuswa ngokwelashwa ngemisebe noma ngokuhlinzwa.
• Izindlela zokwelapha ezilwa ne-angiogenic: Lezi zinganikezwa njenge-infusion noma njengamaphilisi.

Ungase futhi ubone ochwepheshe bezokwelapha izinhlelo ezithile zomzimba, njengesibindi, amaphaphu, uhlelo lokugaya ukudla, kanye nobuchopho.

Ingabe i-HHT ingavinjelwa?

Ngenxa yokuthi kuyisifo esibangelwa izakhi zofuzo, ayikho indlela yokuvimbela i-HHT noma ukunciphisa ingozi yokuba nayo. Kodwa-ke, uma abazali bakho, izingane zakini, noma izingane zakho zine-HHT, kubalulekile ukutshela udokotela wakho. Lokhu kungakusiza ukuthi ubone ukuthi unalesi simo kusenesikhathi, uqale ukwelashwa kusenesikhathi, futhi uvimbele izinkinga.

Iyini inhloso yabantu abane-HHT?

Abantu abane-HHT bangaphila impilo ejwayelekile. Kodwa-ke, ama-AVM kanye nokopha okuqhubekayo emaphashini nasebuchosheni kuyingozi kakhulu futhi kudinga ukwelashwa. Ngokuphathwa okufanele, abantu abaningi bangaphila impilo evamile.

Yini okufanele uyenze ngezinkinga zokuphuma kwegazi ekhaleni ngenxa ye-HHT?

Ukopha ekhaleni kuvame kakhulu ku-HHT, ngakho-ke kunezinto ezimbalwa ongazenza ukuze usize ekuvimbeleni lokhu:

• Gwema ukusebenzisa imithi ethile, ikakhulukazi imithi yokubulala izinhlungu efana ne-aspirin kanye ne-NSAID (isib. i-ibuprofen, i-diclofenac). Lokhu kunganciphisa ukujiya kwegazi futhi kwandise ukopha. Buza udokotela wakho ngaphambi kokuthatha noma yimuphi umuthi.
• Bhala phansi ukudla okudlayo kanye nemisebenzi oyenzayo ebangela ukuphuma kwegazi ekhaleni lakho. Ngemuva kwalokho ungazigwema lezo zinto.
• Gcina ingaphakathi lekhala lakho limanzi futhi ligcotshwe ngamafutha. Lokhu kungenziwa ngokusebenzisa i-humidifier, ukusebenzisa amafutha anconywe udokotela wakho, noma ukusebenzisa i-saline nasal spray. Ikhala elomile linamathuba amaningi okuphuma kwegazi.

Yini enye engingayibuza udokotela wami mayelana ne-HHT?

Uma kutholakale ukuthi une-HHT, kuwumqondo omuhle ukubuza udokotela wakho imibuzo efana nale:

• Ingabe wonke umndeni wami kufanele uhlolwe lokhu?
• Ngingadlala imidlalo? Yimiphi imidlalo emihle nengeyona emihle?
• Ingabe kukhona imisebenzi ethile okufanele ngiyigweme?
• Ingabe kukhona utshwala, ukudla okukhethekile, noma eminye imithi okufanele ngiyigweme?
• Yini engingayenza ukuze ngivimbele ukuphuma kwegazi ekhaleni noma ngiyimise ngokushesha?
• Ingabe kuphephile kimi ukukhulelwa? Ingabe kukhona izinto ezikhethekile okudingeka ngizazi?
• Uma ngithola ukopha, kufanele ngifune nini usizo lwezokwelapha ngokushesha?

Okokugcina, okufanele ukukhumbule

I-HHT yisimo sofuzo esivame ukungatholakali. Izimpawu zingasukela ekuphumeni kwegazi njalo kuya ezinkingeni ezinkulu ezithinta izinhlelo eziningi zomzimba. Uma usola ukuthi wena noma othile emndenini wakho une-HHT, sicela ukhulume nodokotela.Ukwelashwa kusenesikhathi kungasiza ekuvimbeleni izinkinga. Ukuhlolwa kofuzo kungasiza futhi ekunqumeni ukuthi amanye amalungu omndeni athintekile yini yilesi simo. Ukuhlala unolwazi kuyinto ebaluleke kakhulu esimweni esinjengalesi.

I- HHT, i-Hereditary Hemorrhagic Telangiectasia, i-Osler-Weber-Rendu syndrome, ukuphuma kwegazi ekhaleni, imithambo yegazi, izifo zofuzo, i-AVM, i-telangiectasia