I-telangiectasia ene-Hereditary, okanye i-HHT, yintlupheko yemfuza echaphazela imithana yegazi. Kwakhona kuthiwa yi-Osler-Weber-Rendu syndrome, iziphumo zeHHT kwizibonakaliso nembonakalo enokuhlukahluka kumntu kumntu.
Kwakhona kunokwenzeka ukuba ube ne-HHT kwaye ungayazi ukuba unayo, kwaye abanye abantu baqala ukuxilongwa emva kokuhlakulela iingxaki ezinzulu ngenxa ye-HHT.
Phantse ama-90 ekhulwini alabo abane-HHT baya kuba neengxaki zeempumlo eziphindaphindiweyo, kodwa iingxaki ezinzima ziqhelekile. Iingxaki ezinzulu zixhomekeka kwinxalenye apho imilambo yegazi engaqhelekanga ifumaneka kwaye iquka ukuphuma kwegazi kwangaphakathi kunye nesisu, kodwa i-HHT inokuthi ingathuli iminyaka.
Yintoni iHHT?
I-HHT yimeko ezuze ilifa elichaphazela imithwalo yegazi ngeendlela ezingabangela ukungaqhelekanga ezinokungena kwiintetho ezingenasisiseko ukuba zisenokusongela ubomi xa uthatha impilo yonke. Nangona iimpawu kunye neempawu zingase zibe khona ekuqaleni, kudla ukuba kunjalo ukuba iingxaki ezinzulu ezingenakukhula kuze kube emva kweminyaka engama-30.
Kukho iintlobo ezibini eziphambili zeemithwalo yegazi ezinokuchaphazela abantu abane-HHT:
- Telangiectasias
- Iimpembelelo zeArteriovenous, okanye i-AVMs.
Telangiectasia
Igama le-telangiectasia libhekisela kwiqela lemithambo encinci yegazi (i-capillaries kunye neepilisi ezincinci) eziye zahlulwa ngokungaqhelekanga.
Nangona zinokuthi zifake kuzo zonke iindawo ezihlukeneyo zomzimba, i-telangiectasias ibonakala ngokulula, kwaye ixhaphake ngokuqhelekileyo njengokuba ibonakala kufuphi nombala wesikhumba, ngokuqhelekileyo ebusweni okanye emathangeni, ngamanye amaxesha kuthiwa "izivilini zesisu" okanye "imivumba ephukile."
Ziyakwazi ukubonwa kwiimbrane ezinomanzi ezinobuncwane okanye i-linings, ezifana nomlomo emadleni, emasimini nasemilonyeni.
Zibomvu okanye zihlambulule kwi-hue, kwaye zikhangeleka njengezingqungquthela, imicu yombumba, okanye amanethiwekhi omnxeba.
Impact and Management of Telangiectasia
I-Telangiectasia yesikhumba kunye neembumba ezinamaqabunga (ukutywala okumanzi emlonyeni nasemilonyeni) ziqhelekileyo kwizigulane ezineHHT. I-telangiectasiyasi inqwenela ukuba yenzeke ngelixa umntu eselula kwaye enenkqubela. Ukuhlamba kungenziwa kulezi ziza, kodwa ngokuqhelekileyo zilawulwa lula kwaye zilawulwa lula. Ngamanye amaxesha ukusetyenziswa kweyeza kwe-laser kuyasetyenziswa xa kuyimfuneko.
I-Telangiectasias yempumlo-kwi-bine ye-airways ye-nasal- iyona isizathu sokuba i- nosebleeds ixhaphake kakhulu kubantu abane-HHT. Amaphesenti angama-90 abantu abane-HHT banemiphefumlo ephumayo. I-Nosebleeds ingaba mnene okanye ibe nzima kwaye iphindaphindiweyo, iholele ekubeni i-anemia ukuba ingalawulwa. Uninzi lwabantu abane-HHT bahlakulela i-nosebleeds ngaphambi kokuba babe neminyaka engama-20, kodwa ubudala bokuqala buyahlukahluka ngokukodwa, njengokuba kunzima kakhulu imeko.
Kwiphepha lesisu, i-telangiectasias ifumaneka kwi-15 ukuya kwi-30 ekhulwini labantu abane-HHT. Zingaba ngumthombo wokuphuma kwamanzi ngaphakathi, nangona kunjalo, oku kudla ngokukhawuleza kwenzeka ngaphambi kokuba uneminyaka engama-30. Unyango luyahlukahluka ngokuxhomekeka kobunzima begazi kunye nomguli ngamnye. Ukuxhaswa ngeensimbi kunye nokumpontshelwa njengokuba kuyimfuneko inokuba yinxalenye yesicwangciso; unyango lwe-estrogen-progesterone kunye neyeza laser zingasetyenziselwa ukunciphisa ubunzima begazi kunye nesidingo sokumpontshelwa igazi.
Iimpembelelo zeArteriovenous (AVM)
Iimpembelelo zeArteriovenous, okanye i-AVMs, zimela olunye uhlobo lweempazamo zegazi, ngokuqhelekileyo zivela kwinkqubo yesantya, kwimiphunga okanye esibindi. Bokuba banokuzalwa kunye / okanye ukuphuhlisa ixesha.
I-AVM zijongwa njengeengxaki ngenxa yokuba zihlukana ngokulandelelana ngokulandelelana ukuba imithwalo yegazi imele ilandele ukuhambisa i-oksijini kwizicubu kwaye ithwale i-carbon dioxide kwimiphunga, ikhuphe: i-oksijini igazi ngokuqhelekileyo iphuma emiphakeni nasentliziyweni, ngaphandle kwe-aorta, eyona mikhulu kakhulu yemithambo yegazi, ukuya kumathambo amancinci ukuya kwi-arterioles kunye ne-arterioles encinci ekugqibeleni ukuya kumancinci amancinci amancinci; ngoko, i-oxy-oxygenated blood flows into i-venules encinci ukuya emithanjeni encinci ukuya emithanjeni emikhulu ukuya ekugqibeleni ukuya emithanjeni emikhulu, njenge-vena cava ephezulu, kwaye ubuyele entliziyweni, njl njl.
Ngokwahlukileyo, xa i-AVM ikhula, kukho "i-tangle" engavumelekanga yemithambo yegazi edibanisa iirriyiti kwiimvumba, kwindawo ethile ethile yomzimba, kwaye oku kunokuphazamisa ukujikeleza kwegazi kunye nokujikeleza kwe-oksijini. Kuphantse ukuba umgwaqo ophakathi wangena ngokukhawuleza ungena kwindawo yokupaka, apho iimoto zijikeleza ixesha elide ngaphambi kokuba zibuyele ngaphakathi, mhlawumbi zibe zikhokelo ezingalunganga.
Impembelelo noLawulo lwe-AVM
Kubantu abane-HHT, ii-AVM ziyakwenzeka kwimiphunga, ingqondo kunye ne-central system ye-nervous, kunye nokujikelezwa kwesibindi. I-AVM iyakwazi ukuhlukana ukuze ibangele ukuphuma kwegazi, kubangele ukuphazamiseka, ukuphuma kwamanzi kwangaphakathi kunye / okanye i-anemia enkulu (ayinayo ngokwaneleyo iiseli zegazi ezibomvu, ezibangelwa ukukhathala, ubuthathaka kunye nezinye iimpawu).
Xa ii-AVM zenza kwimiphunga kubantu abane-HHT, loo mqathango unganakufumana unyango kuze kube ngumntu oneminyaka engama-30 okanye ngaphezulu. Umntu unokufumana i-AVM kwimiphunga yakhe kwaye ayayazi kuba abanayo impawu. Ngaphandle koko, abantu abane-AVMs yomphunga bangakhupha ngokukhawuleza ukuphuma kwegazi, ukukhwehlela igazi. I-AVMs ye-Lung inokubangela ukuba ingozi ibe yinyameko, apho ukuthunyelwa kwe-oksijini emzimbeni kungaphantsi kwayo, kwaye umntu uvakalelwa ngathi abanako ukufumana umoya owaneleyo xa belele embhedeni ebusuku (le mpawu iqhelekile ngenxa ye-non-HHT ehlobene iimeko, ezifana nokuhluleka kwentliziyo, nangona kunjalo). Into ebizwa ngokuba yi-paradoxical emboli, okanye i-blood clots ephuma kwimiphunga kodwa iya kwi-ingqondo, ingabangela ukubetha komntu one-HHT onama-AVM kwimiphunga.
I-AVM kwimiphunga ingaphathwa ngento ebizwa ngokuba yi-embolization, apho ukucinywa kwenzelwe ngamabomu kwimigu yegazi engavamile, okanye ngokugqithiseleyo, nokuba kukho ukuhlanganiswa kwezi zombini zombini.
Izigulane ze-AVMs zamaphaphu kufuneka zifumane isifuba se-CT rhoqo ukuba zibone ukukhula okanye ukwakheka kwakhona kwiindawo eziyaziwayo ze-malformation kunye nokufumana ii-AVM ezintsha. Ukuhlolwa kwe-AVMs kumphunga kunconywa ngaphambi kokukhulelwa ngenxa yokuba utshintsho kumzimba womama oluqhelekileyo lokukhulelwa lunokuchaphazela i-AVM.
Inani elinama-70 ekhulwini labantu abane-HHT bahlakulela i-AVM kwisibindi. Ngokuqhelekileyo la ma-AVM ayathuli kwaye aya kuphawulwa kuphela xa kwenzeka ukukhangela ngesinye isizathu. I-AVM kwisibindi nayo inokuthi ibe yinto enzulu kwezinye iimeko, nangona kunjalo, kwaye inokukhokelela kwiingxaki zentsholongwane kunye neengxaki ngentliziyo, kwaye kunqabile kakhulu, ukungaphumeleli kwesibindi okufuna ukutshintshwa.
I-AVM kubantu abane-HHT kubangele iingxaki kwingqondo kunye neenkqubo zeentlanzi kwi-10-15 ekhulwini yamatyala, kwaye ezi ngxaki zivame ukuphakama phakathi kwabantu abadala. Kanti ke, nangona kunjalo, kunakho amandla okubandezeleka, apho ubuchopho kunye ne-AVMs yomgudu kungabangela ukubola kwegazi xa bephuka.
Ngubani ochaphazelekayo?
I-HHT yintlupheko yesifo esithathelwa kubazali kubantwana ngendlela ebonakalayo, ngoko ke nabani na umntu unokufumana ilifa le ngxaki, kodwa akunqabile. Ubume bufana nababini nababhinqa.
Ngokubanzi, kuqikelelwa ukuba kwenzeka kwi-1 kubantu abayi-8000, kodwa kuxhomekeka kobuzwe bakho kunye nokwenza imfuyo, iirhafu zakho zinokuba ziphezulu okanye ziphantsi. Ngokomzekelo, iirhafu zokupapashwa kwabantu ngabanye base-Afro-Caribbean okhokho base-Netherlands Antilles (iziqithi zaseAruba, Bonaire, neCuraçao) zinamazinga aphakamileyo, ngokulinganisela kwi-1 yabantu abayi-1,331, ngelixa befika ekumntla kwe-England. Ireyithi iqikelelwa kwi-1 kwi-39,216.
Ukuxilongwa
I-Curaçao i-criteria yokuxilonga, ebizwa ngokuba yi-siqithi saseCaribbean, ibhekise kwisicwangciso-ndlela esingasetyenziselwa ukucacisa amathuba okuba ne-HHT. Ngokweziganeko, ukuxilongwa kwe-HHT kuchanekile ukuba ngaba i-3 yezi zilandelayo zilandelayo zikhona, mhlawumbi okanye zikhankanywe ukuba ngaba zikhoyo, kwaye akunakwenzeka ukuba zingaphantsi kwe-2 zikhoyo:
- Ikhefu eliphindaphindiweyo liphuma ngegazi
- I-Telangiectasias: ezininzi, i-spidery vein patches kwiindawo eziphawulekayo-emlonyeni, ngaphakathi emlonyeni, kwiminwe nasempumleni
- I-telangiectasias yangaphakathi kunye neentsholongwane: i-telangiectasias yesisu (okanye ngaphandle kokuphaphaka) kunye neengxaki eziphambeneyo (imiphunga, isibindi, ingqondo kunye nomthambo womgca)
- Imbali yentsapho: isihlobo esithile sokuqala nesizaliso se-telangiectasia
Iintlobo
Ngokwe-2018 ukuhlaziywa kule ngxelo yiKroon kunye nabalingane, iindidi ze-genetic ze-HHT kunye ne-child-related polyposis syndrome kunye ne-HHT eyaziwayo.
Ngokwesiko, iindidi ezi-2 eziphambili zichazwe: Uhlobo I ludibaniswa nemitshintsho kwimfuza ebizwa ngokuba yi- endoglin gene. Olu hlobo lwe-HHT lubuye lube neentlawulo eziphezulu ze-AVM kwimiphunga okanye kwi-AVMs. Uhlobo lwe-2 lunxulumene nemitshintsho kwimfuza ebizwa ngokuba yi- activin-like-kinase-1 gene (ACVRL1). Olu hlobo lunezinga elincinane lee-AVMs zengqondo kunye neengqondo ezingaphezu kweHHT1, kodwa izinga eliphezulu lama-AVM kwisibindi.
Ukuguqulwa kwegazi kwi-chromosome 9 (uhlobo lwe-HHT no-1) kunye ne-ACVRL1 ye-gene kwi-chromosome 12 (i-HHT hlobo 2) zombini idibene ne-HHT. Ezi zityalo zikholelwa ukuba zibalulekile kwindlela umzimba uhlahlela ngayo nokulungiswa kwemithambo yegazi. Akunjalo nje njengezinto ezinjengezi-2 zegesi, nangona kunjalo, kuzo zonke iziganeko ze-HHT zivela kwiinguqu ezifanayo. Uninzi lweentsapho ezine-HHT zinokuguqulwa komntu. Ngokutsho kwesifundo se-Prigoda kunye nabo basebenzisana nabo, ngoku kungokuthi bangabakho, iziganeko ezingu-168 zatshintshile kwi-endoglin gene kunye ne-138 i-ACVRL1 eyahlukileyo.
Ukongeza kwi-endoglin kunye ne-ACVRL1, ezinye iindiza zegesi zidibene neHHT. Ukuguqulwa kwamanzi kwi-SMAD4 / MADH4 igujane sele idibene ne-syndrome edibeneyo yento ethiwa yi-teenage polyposis ne-HHT. I-juvenile polyposis syndrome, okanye i-JPS, yimeko ezuzwayo ngobuninzi bokukhula okungumdlavuza, okanye iipolisi, kwipatheni yesisu , ngokuqhelekileyo kwi-colon. Ukukhula oku no kwenzeka kwisisu, intlungu emancinci kunye ne-rectum. Ngoko, kwezinye iimeko, abantu banayo i-HHT kunye ne-polyposis syndrome, kwaye oku kubonakala kuhambelana nokuguquguquka kwezakhi ze-SMAD4 / MADH4.
Ukubeka iliso nokukhusela
Ngaphandle kwonyango lwe-telangiectasias kunye nee-AVM njengoko kuyimfuneko, kubalulekile ukuba abantu abane-HHT babekwe iliso, abanye baninzi ngakumbi. Ugqirha uGar'Maison wagqiba ukuhlaziywa ngokukodwa kwe-HHT ngo-2009 kwaye wacetyiswa uhlaka oluqhelekileyo lokubeka iliso:
Ngonyaka, kufuneka kuhlolwe i-telangiectasias entsha, i-nosebleeds, ukuphuma kwamanzi esiswini, iimpawu zesifuba ezifana nokuphefumula okufutshane okanye ukuguqula igazi kunye neempawu ze-neurologic. Ukuhlolisisa igazi kwi-stool kufuneka kwenziwe njalo ngonyaka, njengoko kufuneka ukuba igazi elipheleleyo lifumane i-anemia.
Kuye kucetyiswa ukuba yonke iminyaka emibini kwiminyaka yobuntwana i- oximetry ye-pulsity yenziwe ukuba ikhusele i-AVM yemiphunga, ilandelwe ngokucinga ukuba amazinga oksijini egazini aphantsi. Xa uneminyaka eyi-10, ukukhutshwa kwenkqubo yesifo senhliziyo kuyacetyiswa ukuba kuhlolwe i-AVM ezinzulu ezinokuchaphazela amandla enhliziyo nemiphunga ukwenza imisebenzi yabo.
Kulabo abane-AVM eqinisekileyo kwimiphunga, ukubeka iliso kwinconywa kwenziwa ngokuphindaphindiweyo. Ukuhlolwa kwentsholongwane ye-AVM akukabikwa phambili kodwa kunokwenziwa, ngelixa i-MRI yengqondo ingabandakanyi ii-AVM ezinzulu kunconywa okungenani ngesinye isiganeko emva kokuxilongwa kwe-HHT.
ZoPhando lwezoPhando
I-Bevacizumab isetyenziswe njengonyango lomhlaza ngenxa yindlala elambileyo, okanye i-anti-angiogenic, unyango; inqanda ukukhula kwemithambo yegazi entsha, kwaye oku kuquka imithwalo yegazi evamile kunye nemithambo yegazi ezondla izicubu.
Kuphononongo olutshanje olwenziwa ngabaQibileyo kunye nabalingane, izigulane ezingama-33 ezine-HHT zifakiwe ukuphanda imiphumo ye-bevacizumab kubantu abane-telangiectasia ekhaleni. Ngokomyinge, isigulane ngasinye sasine-injection ye-intranasal engama-6 ye-bevacizumab (udidi, 1-16), kwaye yayilindelwe umyinge weminyaka engama-3 kulolu cwaningo. Izigulane ezine azibonanga ngcono emva kokonyango. Izigulane ezilishumi elinanye zibonisa ukuphuculwa kokuqala (amanqaku amancinane amanqaku kunye nemfuneko encinci yokumpontshelwa igazi), kodwa unyango luye lwacinywa ngaphambi kokuphela kwesifundo kuba umphumo wancipha ngokukhawuleza ukhathala ngaphandle kweejoyi eziphindaphindiweyo. Izigulane ezilishumi elinesibini zaqhubeka zineempendulo ezilungileyo kunyango ekupheleni kokufunda.
Akukho miphumo yendawo engabonakaliyo, kodwa isigulane esinye sagxiliswa i-osteonecrosis (isifo sesifo esingazinciphisa imisebenzi yomzimba) kumabini omabili ngexesha lokunyanga. Ababhali baphetha ngelinye i-intranasal ye-bevacizumab injection yonyango olululo kwimilinganiselo emodareyitha yeemvavanyo ezihambelana ne-HHT. Ubungakanani befuthe lonyango luhluka ukusuka kwisigulane ukuya kwisigulane, nangona kunjalo, kwaye uphuhliso lwongcinezelo unyango lubonakala luqhelekile.
Ukuhlola
Ukuhlolwa kwesi sifo kuyindawo eguqukayo. Ngokutsha iKroon kunye noogxa bakhe bacetyiswa ukuba ukuhlolwa kwenkqubo kuqhutyelwe kwizigulane ezixhaswa yiHHT. Bancoma kokubili ukukhenkcezwa kwezonyango kunye nezofuzo zezigulana ezikhankanywe ngeHHT ukuqinisekisa ukuxilongwa nokukhusela iingxaki ezinxulumene neHHT.
> Imithombo:
> Grand'Maison A. I-telangiectasia enobuhlungu. CMAJ. 2009; 180 (8): 833-835.
> Kroon S, Snijder RJ, Faughnan ME, et al. Ukuphonononga ngokucwangcisiweyo kwi-telangiectasia enelifa eliyingcambu: ukuhlaziywa. Curr Opin Pulm Med . Feb 20; 2018. Ithenda: 10.1097 / MCP.0000000000000472. [Epub ngaphambi kokuprinta].
> Prigoda NL, Savas S, Abdalla SA, et al. I-telangiectasia engapheliyo i-Hereditary: ukufumanisa ukuguquka komzimba, ukuvavanya ukuvavanya nokutshintshwa kwezinto ezintsha. J Med Genet. 2006; 43 (9): 722-728.
> Steineger J, Osnes T, Heimdal K, et al. Ixesha elide lokufumana unyango lwe-bevacizumab ye-intranasal. Laryngoscope. 2018; Feb 22. i-doi: 10.1002 / lary.27147. [Epub ngaphambi kokuprinta].