Ukuthi yini i-Hereditary Hemorrhagic Telangiectasia (HHT)? Izimpawu, Izimbangela, Nokwelashwa

I-Hereditary Hemorrhagic Telangiectasia, noma i-HHT, iyisimo sezofuzo esithinta imithambo yegazi emzimbeni wakho wonke. Abantu abane-HHT banemithambo yegazi engakhiwanga kahle ngesikhathi sokuthuthukiswa, okwenza ukuxhumana ngqo phakathi kwe-arteries ne-veins ngaphandle kwama-capillaries amancane avamile phakathi.

Lesi simo sasibizwa ngokuthi i-Osler-Weber-Rendu syndrome, okubizwe ngegama labodokotela abaqale ukukubhala. Nakuba i-HHT ibhekwa njengengavamile, ithinta cishe umuntu o-1 ku-5,000 emhlabeni jikelele, ungamangala ukwazi ukuthi abantu abaningi baphila nayo ngaphandle kokwazi ukuthi bayitholile.

Iyini ngempela i-HHT?

I-HHT yenza ukuxhumana okungalungile kwemithambo yegazi okuthiwa yi-arteriovenous malformations, noma i-AVMs ngamafuphi. Cabanga ngemithambo yegazi yakho evamile njengesistimu yomgwaqo ehlelile kahle lapho igazi ligeleza khona kusuka ku-arteries ezinkulu, liye emgwaqweni omncane okuthiwa ama-capillaries, bese liya ku-veins ethatha igazi libuyele enhliziyweni yakho.

Nge-HHT, ezinye zalezi zixhumi zidlula ngokuphelele “emgwaqweni” we-capillary, okwenza ukunqamula ngqo phakathi kwe-arteries ne-veins. Lezi zindlela ezincane zingaba amabala amancane esikhunwini sakho nakwimimoya yakho, noma zingaba izakhi ezinkulu ngaphakathi kwamalungu afana nemiphunga yakho, isibindi, noma ubuchopho.

Ukuxhumana okungalungile okuncane kubonakala njengemithambo emikhulu ebomvu noma ephuzi okuthiwa yi-telangiectasias. Uzovabona lokhu emlonyeni wakho, olulimi, izinzwane, nangaphakathi ekhathini lakho. Ukuxhumana okukhulu, okuthiwa yi-AVMs, kuvame ukuthuthukiswa ezingutsheni zangaphakathi futhi kungashintsha kakhulu ngobukhulu nengcindezi.

Ziyini izimpawu ze-HHT?

Isimpawu esivamile futhi esivame ukuba yisokuqala ongasithola yizikhathi ezivamile zokopha ekhathini, okuthiwa yi-epistaxis. Lezi azikona izikhathi ezivamile zokopha ekhathini kodwa kunalokho ziphindaphinda, ezingase zenzeke izikhathi eziningi ngesonto noma nsuku zonke.

Nawa ama-zimpawu aphambili abantu abane-HHT abavame ukuhlangabezana nawo:

• Ukuphuma igazi ekhathini okuvamile okungase kube nzima futhi kunzima ukuyeka.
• Amabala amancane abomvu noma aphuzi emlonyeni wakho, olulimi, izinzwane, noma ebusweni.
• Ukuphefumula ngokunzima ngesikhathi somsebenzi womzimba.
• Ukukhathala okubonakala kungaphezu kwaleyo nto oyenzayo.
• I-anemia yokushoda kwe-iron ngenxa yokulahlekelwa igazi okuqhubekayo.

Abanye abantu bangase babe nezimpawu ezihlobene ne-AVMs ezingutsheni ezithile. Uma une-AVMs yemiphunga, ungase uzizwe uphefumula ngokunzima noma ube nobuhlungu esifubeni. I-AVMs yobuchopho, nakuba ingavamile, ingabangela izikhathi zokukhathala, ukubamba, noma ngisho nokushaya okuncane.

Kubalulekile ukuqonda ukuthi izimpawu ze-HHT zingashintsha kakhulu phakathi kwamalungu omndeni, ngisho nalabo abanehlobo elifanayo le-genetic. Abanye abantu banezimpawu ezilula ezingathinti impilo yabo yansuku zonke, kanti abanye bangase badinge ukwelashwa okukhulu kwezokwelapha.

Ziyini izinhlobo ze-HHT?

I-HHT iza ngezinhlobo eziningana ze-genetic, ezimbili ezivamile yi-HHT1 ne-HHT2. Uhlobo ngalunye lubangelwa yizinguquko ezinhlwini ezahlukene, kodwa zenza izimpawu ezifanayo ngokujwayelekile ngezinye izici ezibalulekile.

I-HHT1, ebangelwa yizinguquko e-ENG gene, ivame ukubangela i-AVMs eminingi yemiphunga nobuchopho. Abantu abalohlobo olufanayo bavame ukuhlangabezana nezinkinga zokuphefumula ezinzima kakhulu futhi banethuba elikhulu lokuthuthukisa i-pulmonary AVMs edinga ukulandelelwa nokwelashwa.

I-HHT2, ehlobene nezinguquko e-ACVRL1 gene, ivame ukubangela i-AVMs yesibindi. Kodwa-ke, abantu abane-HHT2 bangase bathuthukise i-lung AVMs, kodwa ngokuncane kunalabo abane-HHT1.

Kukhona nezinhlobo ezingavamile, kufaka phakathi i-HHT3 ne-HHT4, kanye nezinye izimo lapho imbangela ethile ye-genetic ingakaze itholakala khona. Lezi ziyizigameko ezincane ze-HHT kodwa zingaba nezici zazo ezihlukile.

Yini ebangela i-HHT?

I-HHT ibangelwa yizinguquko ezinhlwini ezisiza ukulawula indlela imithambo yegazi ethuthukiswa futhi igcinwe ngayo. Lezi zinhliziyo ngokuvamile zisebenza njengezincwadi zokufundisa zokwakha ukuxhumana okunempilo kwemithambo yegazi, kodwa uma ziguqulwe, imiyalo iyaxubana.

Lesi simo silandela lokho odokotela abakubiza ngokuthi i-autosomal dominant inheritance pattern. Lokhu kusho ukuthi udinga kuphela ukudlulisela ikhophi elilodwa le-gene eguquliwe kumzali oyedwa ukuze uthuthukise i-HHT. Uma omunye wabazali bakho enesimo se-HHT, unethuba elingu-50% lokulidlulisela.

Ngezinye izikhathi, i-HHT ingase ibe yinguquko entsha, okusho ukuthi akukho mzali onalesi simo kodwa ushintsho lwe-genetic lwenzeke ngesikhathi sokuthuthukiswa kwasekuqaleni. Lezi zimo ezingavamile azivamile kodwa zenzeka, zibala cishe i-20% yezimo ze-HHT.

I-genes evame ukubandakanyeka ihlanganisa i-ENG, i-ACVRL1, ne-SMAD4. Lezi zinhliziyo ngokuvamile zisiza amaseli ukuba axhumane kahle ngesikhathi sokwenziwa kwemithambo yegazi, kuqinisekisa ukuthi i-arteries, ama-capillaries, ne-veins zixhumana ngendlela efanele.

Kufanele ubona nini udokotela ngenxa ye-HHT?

Kufanele ucabange ukuya kudokotela uma uhlangabezana nokuphuma igazi ekhathini okuvamile, ikakhulu uma kuqala ukuba nzima noma kwenzeka izikhathi eziningi ngesonto. Nakuba ukuphuma igazi ekhathini okuvamile kuyinto evamile, okuqhubekayo okuthinta impilo yakho yansuku zonke kudinga ukunakekelwa kwezokwelapha.

Funani ukunakekelwa kwezokwelapha uma uqaphela amabala amancane abomvu noma aphuzi aqala ukuvela emlonyeni wakho, olulimi, noma izinzwane, ikakhulu uma unomlando womndeni wezimpawu ezifanayo. Lezi telangiectasias, kanye nokuphuma igazi okuphindaphindayo ekhathini, yizimpawu zokuqala ze-HHT.

Kufanele ufune ukunakekelwa kwezokwelapha ngokushesha uma uhlangabezana nokuphuma umoya ngokushesha, ubuhlungu esifubeni, izikhathi zokukhathala ezinzima, noma noma yiziphi izimpawu zezinzwa ezinjengoshintsho lokubona noma ubuthakathaka. Lokhu kungase kubonise izinkinga ezivela ku-AVMs yemiphunga yakho noma ubuchopho elidinga ukuhlolwa okusheshayo.

Uma unomlando womndeni we-HHT, kufanele uxoxe ngokuncoma kwe-genetic nokukala nodokotela wakho, ngisho noma ungenawo ama-zimpawu acacile. Ukutholakala kwasekuqaleni kungasiza ukuvimbela izinkinga ngokulandelelwa okufanele nokukhathalela okuvimbelayo.

Ziyini izimbangela zengozi ze-HHT?

Imbangela ephambili yengozi ye-HHT ukuba nomlando womndeni wesimo. Njengoba i-HHT ilandela i-autosomal dominant inheritance pattern, ukuba nomzali oyedwa othonya kukunika ithuba elingu-50% lokulidlulisela lesi simo.

Ubungozi bakho buya ngokuqondile uma amalungu amaningi omndeni ehlangabezane nokuphuma igazi okuvamile ekhathini, i-anemia engachazeki, noma ehlonishwa nge-lung, isibindi, noma i-brain AVMs. Ngezinye izikhathi, amalungu omndeni angase abe nezimpawu kodwa angakaze athole ukuxilongwa okufanele.

Ubudala bungathinta ukuthi izimpawu zivele nini. Nakuba i-HHT ikhona kusukela ekuzalweni, izimpawu zivame ukuba zimbi ngokuhamba kwesikhathi. Ukuphuma igazi ekhathini kungase kuqale ebuntwaneni, kanti i-organ AVMs ingase ingabangeli zimpawu kuze kube ubudala.

Ukukhulelwa ngezinye izikhathi kungenza izimpawu ze-HHT zibe zimbi ngenxa yokwanda kwegazi nokushintsha kwe-hormonal. Abafazi abane-HHT bangase bahlangabezane nokuphuma igazi okuvamile noma okunzima ekhathini ngesikhathi sokukhulelwa futhi bangase badinge ukulandelelwa eduze.

Ziyini izinkinga ezingase zenzeke ngenxa ye-HHT?

Nakuba abantu abaningi abane-HHT baphila impilo evamile, lesi simo singabangela izinkinga eziningi ezidinga ukunakekelwa kwezokwelapha okuqhubekayo. Ukuqonda lezi zinto ezingase zenzeke kungakusiza ukusebenza neqembu lakho lokunakekelwa kwezokwelapha ukuze uzivimbele noma uzilawule ngokuphumelelayo.

Izinkinga ezivamile zihlanganisa:

• I-anemia yokushoda kwe-iron ngenxa yokulahlekelwa igazi okuqhubekayo ngokopha ekhathini.
• I-pulmonary AVMs engabangela ukuphefumula ngokunzima noma, ngokungavamile, ukushaya.
• I-liver AVMs engase ithinte umsebenzi wesibindi ngokuhamba kwesikhathi.
• I-brain AVMs engabangela izikhathi zokukhathala, ukubamba, noma izimpawu zezinzwa.
• I-high-output heart failure evela ku-liver AVMs ezimweni ezinzima.

I-pulmonary AVMs idinga ukunakekelwa okukhethekile ngoba ingavumela ama-blood clots noma ama-bacteria ukuba adlule ngesistimu yokucwecwa yemiphunga. Lokhu kwenza ubungozi obuncane bokuthola ukushaya noma i-brain abscess, kungakho abantu abane-lung AVMs bavame ukuthola ama-antibiotics okuvimbela ngaphambi kokwenza izinqubo zokwelapha amazinyo.

Ezimeni ezingavamile, i-liver AVMs enkulu ingabangela inhliziyo ukuba isebenze kakhulu, okungenzeka kubeka ingozi yokuhluleka kwenhliziyo eminyakeni eminingi. I-brain AVMs, nakuba ingavamile, ngezinye izikhathi ingase iphuke futhi ibeka ingozi yokopha ebuchosheni, nakuba lokhu kungavamile.

I-HHT ingavikeleka kanjani?

Njengoba i-HHT iyisimo sezofuzo, awukwazi ukuyivimbela uma ulidlulisela i-genes eguquliwe. Kodwa-ke, ungathatha izinyathelo zokuvimbela izinkinga nokuphatha izimpawu ngokuphumelelayo uma usuke wazi ukuthi unalesi simo.

Uma uhlela ukuba nezingane futhi une-HHT noma umlando womndeni wayo, ukuncoma kwe-genetic kungakusiza ukuqonda ubungozi nezinketho. Ukuhlolwa kwe-genetic ngaphambi kokuzalwa kukhona uma ufuna ukwazi ukuthi ingane yakho izokudlulisela yini lesi simo.

Ekuphatheni i-HHT ekhona, ukuvimbela kugxile ekugwemeni imisebenzi engase ibeka ingozi yokopha okunzima ekhathini nokugcina impilo enhle. Lokhu kuhlanganisa ukusebenzisa i-humidifier, ukugwema ukukhipha ekhathini, nokuba mnene uma ukhumula ekhathini.

Ukulandelelwa okuvamile kwezokwelapha kubalulekile ekuvimbeleni izinkinga ezinzima. Lokhu ngokuvamile kuhlanganisa izifundo zokuthola izithombe ukuze uhlole i-AVMs entsha nokulandelela amazinga e-iron ukuze uvimbele i-anemia enzima.

I-HHT ixilongwa kanjani?

Odokotela baxilonga i-HHT besebenzisa ukuxuba kwezindinganiso zezokwelapha nokulingwa kwe-genetic. Ukuxilongwa kuvame ukuqala ngokuqaphela iphethini yezimpawu, ikakhulu ukuxuba kokopha okuphindaphindayo ekhathini ne-telangiectasias ebonakalayo.

I-Curacao Criteria isebenza ekuxilongeni i-HHT ngokuya ngezici ezine eziphambili: ukuphuma igazi okuphindaphindayo ekhathini, i-telangiectasias ezindaweni ezibonakalayo, i-visceral AVMs, nomlando womndeni we-HHT. Ukuba nezici ezintathu noma ngaphezulu kwenza ukuxilongwa kucace.

Ukuhlolwa kwe-genetic kungaqinisekisa ukuxilongwa futhi kuhlonze uhlobo oluthile lwe-HHT olukhona. Lolu lwazi lusiza odokotela ukuqonda ukuthi yiziphi izinkinga ongahlangabezana nazo futhi uhlele izikhathi zokuhlola ezifanele.

Udokotela wakho angase futhi anikeze izifundo zokuthola izithombe ezinjenge-CT scans noma i-MRI ukuze abone i-AVMs yemiphunga yakho, isibindi, noma ubuchopho. I-echocardiogram enesifundo sebhubhu ivame ukusetshenziswa ekuhlaleni i-lung AVMs, njengoba iyivivinyo lokuqala elivikelekile nelisebenzayo.

Iyini ukwelashwa kwe-HHT?

Ukwelashwa kwe-HHT kugxile ekuphatheni izimpawu nokugwema izinkinga kunokwelapha isimo esiyimbangela. Uhlelo lwakho lokwelashwa luzokwenziwa ngokwezimpawu zakho ezithile nendawo ye-AVMs onayo.

Ngokuphuma igazi ekhathini, ukwelashwa kuya kusuka ezinyathelweni ezilula zokufaka umswakama kuya ezindleleni eziphambili. Izinketho zihlanganisa ukugcoba okunosa-saline, ukufaka umswakama, ukwelashwa okusebenza ngqo, i-laser therapy, noma ngisho nezindlela zokuvala ekhathini ezimweni ezinzima.

Nawa ama-indlela aphambili okwelashwa:

• Ukufakwa kwe-iron ne-blood transfusions ye-anemia.
• Izindlela ze-embolization zokuvimba i-AVMs enkingeni.
• Ukususa ngokusebenza i-AVMs efinyeleleka uma kufaneleka.
• Imithi yokunciphisa ukopha.
• Ama-antibiotics okuvimbela ngaphambi kwezindlela zokwelapha amazinyo noma ukusebenza.

I-lung AVMs enkulu ngokuvamile iwelashwa nge-embolization, inqubo lapho ama-coils amancane noma ama-plugs abekwa khona ukuvimba ukuxhumana okungalungile. Lokhu ngokuvamile kwenziwa njengokuhlinzwa kwabantu abangaphandle futhi kunganciphisa kakhulu ubungozi bokuthola ukushaya noma ezinye izinkinga.

I-liver AVMs ngokuvamile ihlala ilingwa kunokwelashwa ngaphandle uma ibangela izinkinga zenhliziyo. I-brain AVMs idinga ukuhlolwa ngokucophelela ochwepheshe bezokwelapha ubuchopho ukuze baqonde ukuthi ukwelashwa kuyadingeka yini futhi kuvikelekile.

Ungayiphatha kanjani i-HHT ekhaya?

Ukuhlala kahle ne-HHT kuhlanganisa ukuthuthukisa imikhuba yansuku zonke eyanciphisa izimpawu futhi yanciphise ubungozi bakho bezinkinga. Abantu abaningi bathola ukuthi ukulungiswa okulula kwesitayela sempilo kungenza umehluko omkhulu ezingeni lempilo yabo.

Ukulawula ukuphuma igazi ekhathini, gcina imingcele yakho yekhathi inomswakama usebenzisa ama-sprays e-saline noma i-humidifier, ikakhulu ngesikhathi sezulu eliomile. Faka ilayi elibukhulu le-petroleum jelly noma i-nasal gel ngaphakathi ekhathini lakho ngaphambi kokulala ukuvimbela ukumomotheka nokubhebhetheka.

Uma ukuphuma igazi ekhathini kwenzeka, gqolo phambili kancane bese ucindezela ingxenye ebushelelezi yekhathini lakho imizuzu engu-10-15. Gwema ukukhotha ikhanda lakho emuva, njengoba lokhu kungabangela igazi ukuba ligeleze phansi komlomo wakho futhi kubeka ingozi yokuphefumula.

Landelela amazinga wakho kwamandla futhi uqaphele izimpawu ze-anemia ezinjengokukhathala okungavamile, ukuphefumula ngokunzima, noma isikhumba esimhlophe. Gcina umbhalo wokuphuma igazi ekhathini kwakho nobunzima ukuze uxoxe neqembu lakho lokunakekelwa kwezokwelapha ngesikhathi sokuvakasha.

Hlala unolwazi ngokunakekelwa okuvimbelayo, kufaka phakathi ukuhlanza amazinyo nokulingwa okutholiwe kwezithombe. Uma une-lung AVMs, khumbula ukuthatha ama-antibiotics okuvimbela ngaphambi kwezindlela zokwelapha amazinyo ukuze uvimbele ukutheleleka okungenzeka.

Kufanele uzilungiselele kanjani i-aphoyintimenti yakho nodokotela?

Ukulungiselela i-aphoyintimenti yakho yezokwelapha ehlobene ne-HHT kungasiza ukuqinisekisa ukuthi uthola ukunakekelwa okuphelele okungenzeka. Qala ngokugcina idayari yesimpawu elandelela ukuphuma kwakho igazi ekhathini, kufaka phakathi ubukhulu, isikhathi, nobunzima.

Butha umlando wakho womndeni wezokwelapha, ikakhulu uqaphele noma yimiphi amalungu omndeni ayehlangabezana nokuphuma igazi okuvamile ekhathini, i-anemia engachazeki, izinkinga zemiphunga, noma ukushaya ebudaleni obuphansi. Lolu lwazi lungabalulekile kokubili ekuxilongeni nasekunconeni kwe-genetic.

Letha uhlu lwazo zonke imithi yakho yamanje, kufaka phakathi izithasiselo ezingaphezulu kokuthengwa ngaphandle namavithamini. Ezinye imithi ingathinta ukopha, ngakho-ke udokotela wakho udinga isithombe esiphelele salokho osikhulayo.

Bhala phansi noma yimiphi imibuzo onayo ngesimo sakho, izinketho zokwelashwa, noma ukulungiswa kwesitayela sempilo. Unganqikazi ukubuza ngokuncoma kwe-genetic uma uhlela ukuba nezingane noma uma amanye amalungu omndeni angase athinteke.

Iyini into ebalulekile nge-HHT?

I-HHT iyisimo sezofuzo esilawuleka esithinta ukwakhiwa kwemithambo yegazi emzimbeni wakho wonke. Nakuba ingabangela izimpawu eziyinkinga ezinjengokuphuma igazi okuvamile ekhathini futhi idinga ukulandelelwa okuqhubekayo kwezokwelapha, abantu abaningi abane-HHT baphila impilo egcwele, esebenzayo ngokunakekelwa okufanele.

Ukuhlala kahle ne-HHT kuyindlela yokuxilongwa kwasekuqaleni, ukulandelelwa okuvamile kwezinkinga, nokusebenza eduze neqembu lokunakekelwa kwezokwelapha eliqhele ukwazi lesi simo. Izimpawu eziningi zingaphathwa ngokuphumelelayo ngokwelashwa okufanele nokuguqulwa kwesitayela sempilo.

Uma ucindezela ukuthi ungase ube ne-HHT ngokuya ngezimpawu noma umlando womndeni, unganqikazi ukuxoxa ngakho nodokotela wakho. Ukutholakala kwasekuqaleni nokuphathwa okufanele kungavimbela izinkinga ezinzima futhi kuthuthukise kakhulu ikhwalithi yempilo yakho.

Khumbula ukuthi ukuba ne-HHT akuchazi imingcele yempilo yakho. Ngokunakekelwa okufanele kwezokwelapha namasu okuphatha, ungalandela imigomo yakho futhi ugcine impilo enhle ngokujwayelekile ngenkathi uphatha lesi simo.

Imibuzo evamile ebuzwa nge-HHT

Ingabe i-HHT iyingozi ekuphileni?

Kubantu abaningi, i-HHT ayiyona ingozi ekuphileni ngokushesha, kodwa idinga ukuphathwa okuqhubekayo kwezokwelapha. Izingozi eziphambili zivela ezinkingeni ezingase zenzeke ezinjenge-lung AVMs enkulu noma i-brain AVMs, ethinta kuphela iqembu labantu abane-HHT. Ngokulandelelwa okufanele nokwelashwa, abantu abaningi abane-HHT banethuba lempilo evamile.

Ingabe izimpawu ze-HHT zingaba zimbi ngokuhamba kwesikhathi?

Yebo, izimpawu ze-HHT zivame ukuqhubeka kancane kancane ngokuhamba kwesikhathi. Ukuphuma igazi ekhathini kungase kube khona ngokuvamile noma kube nzima ngokuhamba kwesikhathi, futhi i-AVMs entsha ingase ithuthukiswe ezingutsheni ezahlukene. Kungakho ukulandelelwa okuvamile kubalulekile, njengoba ukutholakala kwasekuqaleni kwe-AVMs entsha kuvumela ukwelashwa ngesikhathi uma kudingeka.

Kufanele ngigweme imisebenzi ethile uma ngine-HHT?

Abantu abaningi abane-HHT bangase bahlanganyele emisebenzini evamile, kodwa ezinye izinyathelo zokuphepha zingase zinconywe. Uma une-lung AVMs, udokotela wakho angase akuncome ukugwema ukuhamba ngaphansi kwamanzi ngenxa yokushintsha kokucindezela. Imisebenzi yokuxhumana ingase ivinjelwe uma une-brain AVMs, kodwa lezi zikhawu zihlukaniswe ngokwezimo zakho ezithile.

Ingabe ukukhulelwa kungathinta izimpawu ze-HHT?

Ukukhulelwa kungenza izimpawu ze-HHT zibe zimbi okwesikhashana ngenxa yokwanda kwegazi nokushintsha kwe-hormonal. Ukuphuma igazi ekhathini kungase kube khona ngokuvamile, futhi i-AVMs ekhona ingase ikhule. Kodwa-ke, ngokunakekelwa okufanele kokukhulelwa nokulandelelwa, abesifazane abaningi abane-HHT banezinto ezaphumelelayo zokukhulelwa.

Ingabe ukuhlolwa kwe-genetic kuyadingeka amalungu omndeni?

Ukuhlolwa kwe-genetic kungaba usizo amalungu omndeni, ikakhulu uma ehlangabezana nezimpawu noma ehlela ukuba nezingane. Kodwa-ke, isinqumo siyisikhethe futhi kufanele sihlanganise ukuncoma kwe-genetic ukuqonda izinzuzo nemingcele yokuhlola. Abanye abantu bakhetha ukugxila ekuqapheleni izimpawu kunokuhlolwa kwe-genetic.