Ngaba nawe unesifo sokuphuma kwegazi rhoqo? Isenokuba yi-HHT (Hereditary Hemorrhagic Telangiectasia)!

Ngaba uhlala uphuma igazi empumlweni? Okanye ngaba ukhe waphawula amabala amancinci abomvu kwiindawo ezithile zomzimba wakho, umzekelo, ebusweni bakho, emilebeni, okanye kwiiminwe? Ngamanye amaxesha asicingi ukuba ezi zinto ziqhelekileyo, kodwa emva kwazo kunokubakho imeko yezonyango efuna ingqalelo ethile. Yiyo loo nto i-HHT iyiyo, kodwa abantu abaninzi abazi ngayo. Namhlanje sithetha ngale HHT, okanye ngokwezonyango, `(Hereditary Hemorrhagic Telangiectasia)`, isifo esidluliselwa kwilifa. Abanye babiza ngokuba yi `(Osler-Weber-Rendu syndrome)`.

Yintoni kanye kanye i-HHT?

Ngamafutshane, i-HHT sisifo semfuza esichaphazela imithambo yegazi emizimbeni yethu. Uyazi, sinale mibhobho mincinci ethwala igazi emizimbeni yethu, esiyibiza ngokuba yimithambo yegazi. Kule meko, okwenzekayo kukuba le mibhobho yegazi, ingakumbi leyo mincinci kakhulu ebizwa ngokuba yi-capillaries, ayikhuli kakuhle. Sibiza ezi capillaries ezingaqhelekanga ngokuba yi-'telangiectasias'.

Cinga nje, sinemithambo emikhulu ethwala igazi esuka entliziyweni yethu ukuya emzimbeni wethu wonke, kunye nemithambo ethwala elo gazi ibuyela entliziyweni. Unxibelelwano phakathi kwezi zimbini lwenziwa zizinto ezibizwa ngokuba zii-capillaries. Kwi-HHT, ngamanye amaxesha le mithambo kunye nemithambo inokuba nonxibelelwano olungaqhelekanga ngokuthe ngqo, ngaphandle kokudlula kwii-capillaries. Sizibiza ezi ngxaki zemithambo yegazi, okanye ii-AVM ngamafutshane.

Le mithambo yegazi engaqhelekanga ibuthathaka kakhulu kwaye ibuthathaka. Inokugqabhuka okanye iqhekeke lula, ibangele ukopha (ukopha igazi). Iimpawu kunye neengxaki zixhomekeke kwindawo apho ukopha kwenzeka khona.

Ngubani onokuphuhlisa i-HHT?

Le meko ibizwa ngokuba yi-HHT inokuchaphazela abafazi, amadoda, kwanabantwana abancinci . Uhlanga, unqulo, kunye nombala azibalulekanga koku. Ikakhulu kuba idluliselwa kwizizukulwana ngezizukulwana ngemizila yemfuza, ukuba kukho umntu kusapho onayo, nabanye banethuba lokuba nayo.

Oku kuthathwa njengemeko engaqhelekanga . Nangona kunjalo, kudla ngokungafumaneki kakuhle kwesi sifo. Oku kuthetha ukuba, nangona kuqikelelwa ukuba umntu omnye kwabayi-5,000 kwihlabathi liphela unesifo esi, uninzi lwabo alwazi ukuba lunaso.

Yintoni ebangela i-HHT?

Njengoko benditshilo ngaphambili, i-HHT yimeko yemfuza ngokupheleleyo . Oku kuthetha ukuba ifunyanwa ngabazali ukuya ebantwaneni. Ithathwa njenge "ngxaki ebalaseleyo". Ngamafutshane, umntwana unokufumana esi sifo nokuba ngumzali omnye kuphela, umama okanye utata, ofumana i-gene engaqhelekanga .

Izazinzulu zichonge amakhulu eenguqu ezahlukeneyo kwiijini ezintandathu ezinxulunyaniswa ne-HHT. Nangona kunjalo, okwangoku, ezona nguqu zixhaphakileyo zikwijini ezimbini ezibizwa ngokuba yi-ENG kunye ne-ACVRL1. Izazinzulu zisaphanda oku.

Zithini iimpawu ze-HHT?

Iimpawu ze-HHT zinokwahluka kakhulu kumntu nomntu. Kuxhomekeke ekubeni iphi emzimbeni imithambo yegazi engaqhelekanga endikhankanyileyo. Abanye abantu basenokungabi nazo naziphi na iimpawu ezinkulu. Kodwa abanye banokuba neempawu ezinzima kakhulu nezinzima.

Nangona kunjalo, uphawu oluqhelekileyo kubantu abane-HHT kukuphuma kwegazi rhoqo (epistaxis) . Abanye abantu banokuba nokopha igazi kaninzi ngemini. Le ngxaki isenokuba ibikho kwasebuntwaneni.

Ukongeza, abanye abantu abane-HHT banokubona amabala amancinci abomvu (i-telangiectasias) emizimbeni yabo. La mabala anokubonakala etshintshe umbala kancinci kuwe. La abonakala kakhulu kwi:

• Ebusweni
• Kwiminwe okanye kwiminwe
• Ezandleni
• Ngaphakathi emlonyeni (kwi-mucous membrane)
• Emilebeni
• Ijikeleze impumlo

Ukongeza kwezi, abanye abantu abane-HHT banokufumana oku kulandelayo:

• I-anemia : Oku kuthetha ukungabikho kweeseli ezibomvu zegazi emzimbeni. Oku kunokwenzeka ngenxa yokopha rhoqo.
• Ukopha esiswini okanye emathunjini : Oku kusenokungabonakali, kodwa kusenokuba kukho igazi kwindle okanye indle inokuba mnyama.

Iingxaki ze-Arteriovenous (AVMs) kunye nemiphumo yazo

Abantu abane-HHT ngamanye amaxesha banokuba nee-aneurysms (ii-AVM) kwimithambo yegazi emikhulu. Ezi AVM zinokukhula ikakhulu kwizitho ezifana nemiphunga, ubuchopho, umqolo, nesibindi. Emva koko zinokubangela iimpawu ezahlukeneyo ezinxulumene nesitho ngasinye.

• Ukuba une-AVM emiphungeni yakho:
• Ukutshintsha kombala wesikhumba (ingakumbi imilebe, iinzipho)
• Ukukhohlela igazi (i-hemoptysis)
• Ndiziva ndidiniwe ngokukhawuleza
• Ubunzima bokuphefumla (ukuphelelwa ngamandla)
• Ukuba une `(AVM)` engqondweni: Ezi zezona ziyingozi ngakumbi. Kuba ukuba enye yezi `(AVM)` iqhuma ngaphakathi engqondweni, imbi kakhulu.
• Isiyezi
• Umbono ophindwe kabini
• Ukuxhuzula
• Iimeko ezifana nestroke zinokwenzeka.
• Ukuba une-AVM zesibindi:
• Intliziyo ingangena kwimeko "yokusilela kwentliziyo" kuba xa igazi lidlula kwi "(AVM)" esibindini, intliziyo kufuneka isebenze nzima ukubonelela ngegazi emzimbeni wonke.
• Ukuba une-spinal AVMs:
• Umqolo obuhlungu
• Kunokubakho ukungaziva okanye ukuphelelwa zimvakalelo ezandleni okanye ezinyaweni.

Kubalulekile: Ukuba ezi ``(ii-AVM)`` ziyaqhekeka zize zophe igazi, yingxamiseko enkulu kakhulu. Ke ngoko, ukuba unezinye zeempawu ezikhankanyiweyo apha ngasentla, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngokukhawuleza.

Ngaba abantwana bam nabo banokuba ne-HHT?

Ewe, ukuba une-HHT, ngamnye kubantwana bakho unethuba elingama-50% lokufumana esi sifo njengelifa.Ewe. Oko kuthetha ukuba ngalo lonke ixesha umntwana ezalwa, kukho ithuba elingama-50% lokuba umntwana uza kuba ne-HHT kunye nethuba elingama-50% lokuba angayi kuba nayo. Kufana nokuphosa ingqekembe uze ufumane iintloko okanye imisila.

Ifunyaniswa njani i-HHT?

Uvavanyo lwemfuza lunokwenziwa ukuqinisekisa i-HHT. Kodwa amaxesha amaninzi, oogqirha bayixilonga ngokusekelwe kulwazi lwezonyango, olufana neempawu kunye nembali yosapho. Xa ubona ugqirha, badla ngokwenza oku kulandelayo:

• Baza kukubuza imibuzo eneenkcukacha malunga nembali yakho yezonyango (umz., ukuba unexesha elingakanani uphuma igazi empumlweni, kangaphi, kunye nezinye iingxaki oye wazifumana).
• Buza ngembali yezonyango yosapho lwakho olusondeleyo (abazali, abantakwenu, abantwana) kuba oku kwenzeka kwiintsapho.
• Umzimba wakho uza kuhlolwa (ukuze kubonwe ukuba kukho amabala abomvu okanye anjalo).
• Ukuba kuyimfuneko, thumela iimvavanyo (umz. iintlobo ze-`(scan)`, `(Endoscopy)`) ukujonga imeko yezitho zangaphakathi .

Ugqirha unokukrokrela okanye agqibe ukuba une-HHT ukuba uneempawu ezintathu kwezi zilandelayo:

• Ukopha rhoqo ngeempumlo.
• Ubukho be-telangiectasias ezininzi kwiindawo apho zihlala zibonakala khona eluswini (njengobuso, imilebe, iminwe).
• Ukubakho kwe-"telangiectasias" okanye "ii-AVM" kwizitho zangaphakathi (umz. imiphunga, ubuchopho, isisu, amathumbu) (ezi zifunyanwa kuphela ngovavanyo).
• Ukuba nelungu losapho elisondeleyo eline-HHT.

Ziziphi iindlela zonyango ze-HHT?

Ngelishwa, akukho nyango lwe-HHT. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu, ukunciphisa iimpawu, kunye nokunciphisa umngcipheko weengxaki ezinkulu. Izazinzulu zisasebenza ekufumaneni unyango lwe-HHT, ingakumbi ngophuhliso lwezonyango ezichasene ne-angiogenic.

Ngelixa ugqirha wakho enyanga iimpawu ezikhoyo, uza kujonga naziphi na iingxaki ezinxulumene ne-HHT ezisenokuba azinazo iimpawu okwangoku.

Unyango lungabandakanya oku kulandelayo:

• Unyango lweLaser (`(Ablation)`): Utyando oluncinci olusebenzisa imisebe yelaser ukunqanda iindawo eziphuma igazi (telangiectasias) ezinokuba nokopha.
• Ukufakelwa kwegazi: Inkqubo encinci yotyando ethintela umthambo wegazi okhokelela kwindawo yokopha okanye kwi-AVM esengozini yokopha.
• Unyango lwe-anemia: Ukunika iipilisi zesinyithi, kunye nokunika igazi (utofelo-gazi) ukuba kuyimfuneko.
• Ukulawula ukopha kwempumlo: Sebenzisa iimveliso ezifana namafutha okugcoba kunye ne-saline spray ukugcina ingaphakathi lempumlo limanzi.
• Ukususa ii-AVM: Ezinye ii-AVM zinokususwa ngonyango lwemitha okanye ngotyando.
• Unyango lwezonyango oluchasene ne-angiogenic: Olu nyango lunokunikwa njenge-infusions okanye njengeepilisi.

Ungabonana neengcali zonyango lweenkqubo ezithile zomzimba, ezifana nesibindi, imiphunga, inkqubo yesisu, kunye nengqondo.

Ngaba i-HHT ingathintelwa?

Ngenxa yokuba sisifo esibangelwa lufuzo, akukho ndlela yokuthintela i-HHT okanye ukunciphisa umngcipheko wokuba nayo. Nangona kunjalo, ukuba abazali bakho, abantakwenu, okanye abantwana bakho bane-HHT, kubalulekile ukuxelela ugqirha wakho. Oku kunokukunceda uchonge ukuba unayo na imeko kwangethuba, uqale unyango kwangethuba, kwaye uthintele iingxaki.

Injani imbono yabantu abane-HHT?

Abantu abane-HHT banokuphila ubomi obuqhelekileyo. Nangona kunjalo, ii-AVM kunye nokopha okungapheliyo emiphungeni nasebuchotsheni ziyingozi kwaye zifuna unyango. Ngolawulo olufanelekileyo, uninzi lwabantu lunokuphila ubomi obuqhelekileyo.

Yintoni omawuyenze xa uphuma igazi ngenxa ye-HHT?

Ukopha empumlweni kuxhaphake kakhulu kwi-HHT, ngoko ke kukho izinto ezimbalwa onokuzenza ukunceda ukuthintela oku:

• Kuphephe ukusebenzisa amayeza athile, ingakumbi amayeza okudambisa iintlungu afana ne-aspirin kunye ne-NSAIDs (umz. i-ibuprofen, i-diclofenac). Ezi zinokunciphisa ukujiya kwegazi kwaye zonyuse ukopha. Buza ugqirha wakho ngaphambi kokuba usebenzise naliphi na iyeza.
• Bhala phantsi ukutya okutyayo kunye nemisebenzi oyenzayo ebangela ukopha kwempumlo yakho. Emva koko ungaziphepha ezo zinto.
• Gcina ingaphakathi lempumlo yakho limanzi kwaye lithanjiswe. Oku kungenziwa ngokusebenzisa i-humidifier, ukusebenzisa amafutha acetyiswa ngugqirha wakho, okanye ukusebenzisa i-saline nasal spray. Impumlo eyomileyo inokuba negazi.

Yintoni enye endingayibuza ugqirha wam malunga ne-HHT?

Ukuba ufunyaniswe une-HHT, kungcono ukubuza ugqirha wakho imibuzo efana nale:

• Ngaba lonke usapho lwam kufuneka luvavanywe oku?
• Ndingayidlala imidlalo? Zeziphi iintlobo zemidlalo ezilungileyo nezingalunganga?
• Ngaba kukho imisebenzi ethile endifanele ndiyiphephe?
• Ngaba kukho utywala, ukutya okukhethekileyo, okanye amanye amayeza endifanele ndiwaphephe?
• Ndingenza ntoni ukuthintela ukopha empumlweni okanye ukuyinqanda ngokukhawuleza?
• Ingaba kukhuselekile ukuba ndikhulelwe? Ngaba kukho izinto ezikhethekileyo ekufuneka ndizazi?
• Ukuba ndifumana ukopha, kufuneka ndifune nini uncedo lwezonyango ngokukhawuleza?

Okokugqibela, yintoni ekufuneka uyikhumbule

I-HHT yimeko yemfuza edla ngokungafunyaniswa. Iimpawu zinokuqala ekuphumeni kwegazi rhoqo ukuya kwiingxaki ezinkulu ezichaphazela iinkqubo ezininzi zomzimba. Ukuba ukrokrela ukuba wena okanye umntu kusapho lwakho une-HHT, nceda uthethe nogqirha.Unyango lwangethuba lunokunceda ukuthintela iingxaki. Uvavanyo lwemfuza lunokunceda ekuqinisekiseni ukuba amanye amalungu osapho ayachaphazeleka yile meko. Ukuhlala unolwazi yeyona nto ibalulekileyo kwimeko efana nale.

I- HHT, i-Hereditary Hemorrhagic Telangiectasia, i-Osler-Weber-Rendu syndrome, ukopha kwempumlo, imithambo yegazi, izifo zemfuza, i-AVM, i-telangiectasia