I-telangiectasia ene-Hereditary ene-Hereditary, noma i-HHT, isifo esiwumzimba esithinta imithwalo yegazi. Futhi ibizwa ngokuthi i-Osler-Weber-Rendu syndrome, imiphumela ye-HHT ezimpawu nemibonakaliso engafana kakhulu nomuntu nomuntu.
Kungenzeka futhi ukuthi ube ne-HHT futhi ungazi ukuthi unayo, futhi abanye abantu baqala ukuxilongwa ngemuva kokuthuthukisa izinkinga ezinkulu ngenxa ye-HHT.
Amaphesenti angaba ngu-90 alabo abane-HHT bazoba ne-nosebleeds ephindaphindiwe, kodwa izinkinga ezimbi kakhulu nazo zivame kakhulu. Izinkinga ezinkulu zixhomeke ekubambeni lapho izitsha zegazi ezingavamile zitholakala khona futhi zifaka ukuphuma kwegazi ngaphakathi, kodwa i-HHT nayo ingathula iminyaka.
Kuyini i-HHT?
I-HHT yisimo esizuzwe njengefa esithinta izitsha zakho zegazi ngezindlela ezingabangela ukungahleleki okungahle kuvele kumuntu ongenacala kakhulu ukuze kube khona impilo esongelayo lapho uthatha impilo yonke. Nakuba izibonakaliso nezimpawu zingase zibe khona ekuqaleni, ngokuvamile kuvame ukuthi izinkinga ezinkulu ezingase zingakhulumi kuze kube sekupheleni kweminyaka engama-30.
Kunezinhlobo ezimbili eziyinhloko zezinkinga zemithwalo yegazi ezingathinta abantu abane-HHT:
- I-Telangiectasias
- Amaphutha we-Arteriovenous, noma ama-AVM.
I-Telangiectasia
Igama elithi telangiectasia libhekisela eqenjini lemithambo encane yegazi (i-capillaries ne-venules encane) eye yahlulwa ngokungavamile.
Nakuba zingakhiwa kuzo zonke izingxenye zomzimba, izingqimba ze-telangiectasias zibonakala kalula, futhi ngokuvamile zicatshangwa ukuthi zibonakala eduze kwesikhumba, ngokuvamile zibhekene nobuso noma emathangeni, ngezinye izikhathi zibhekwa ngokuthi "imivimbo yesicabucabu," noma "imivimbo ephukile."
Zingabonakala nasezinkalweni ezinamanzi ezinamaqabunga noma izinsimbi ezinjenge-linings, ezifana nomlomo emathunzini, ezinsini nasezintweni.
Zibomvu noma zihlanjululwe ku-hue, futhi zibukeka sengathi zihamba, izintambo zensimbi, noma amanethiwekhi we-spidery.
Impact and Management of Telangiectasia
I-Telangiectasia yesikhumba nama- membrane emangcwabeni (ukukhanya okumanzi komlomo nezindebe) kuvamile phakathi kweziguli ezine-HHT. I-telangiectasiyasivame ukuvela ngesikhathi umuntu esemncane futhi ethuthuka eneminyaka yobudala. Ukweqa kungenziwa kulezi zindawo, kodwa ngokuvamile kuvunyelwe kalula futhi kulula. I-Laser ablation therapy isetshenziswa ngezinye izikhathi uma kudingeka.
I-Telangiectasias yephunga-engxenyeni yokuhamba emoyeni-kungukuthi i- nosebleeds ivame kakhulu kubantu abane-HHT. Abantu abangamaphesenti angama-90 abane-HHT banamaphutha aphindaphindiwe. Amapulangwe angaba mnene noma ngaphezulu futhi aphindaphindiwe, okuholela ekudleni kwegazi uma kungalawulwa. Iningi labantu abane-HHT bathuthukisa ama-nosebleeds ngaphambi kweminyaka engama-20, kodwa iminyaka yokuqala ingahluka kancane, njengoba kungenzeka ubukhulu besimo.
Esikhathini samathambo, ama-telangiectasias atholakala kumaphesenti angama-15 kuya kwangu-30 abantu abane-HHT. Kungaba umthombo wokuphuma kwegazi ngaphakathi, kodwa lokhu akuvamile ukuthi kwenzeke ngaphambi kokuba uneminyaka engama-30. Ukwelashwa kuyahlukahluka kuye ngokuthi ubuhlungu begazi kanye nesiguli ngasinye. Ukwengezwa kwe-Iron kanye nokumpontshelwa njengoba kudingekile kungaba yingxenye yepulani; Ukwelashwa kwe-estrogen-progesterone kanye nokwelashwa kwe-laser kungasetshenziselwa ukunciphisa ubunzima bokuphuma kwegazi kanye nesidingo sokumpompela.
Amaphutha we-Arteriovenous (AVM)
Amaphutha, noma ama-AVM, aphikisana nolunye uhlobo lwezinkinga zemithambo yegazi, evame ukuvela ohlelweni lwezinzwa, amaphaphu noma isibindi. Bangase babe khona lapho bezalwa futhi / noma bakhulise ngokuhamba kwesikhathi.
Ama-AVM abhekwa njengama-malformations ngoba aphula ukulandelana okuhlelekile ukuthi imithwalo yegazi ngokuvamile ilandele ukuhambisa i-oxygen kuma-tishu bese ithwala i-carbon dioxide emaphashini, ukuba iphelelwe amandla: igazi eliphefumulayo ngokuvamile liphuma emaphashini nasenhliziyweni, ngaphandle kwe-aorta, kuya e- inqwaba yemithwalo yegazi, ukubhebhetheka kwemithambo emincane ye-arterioles kanye nama-arterioles amancane ekugcineni kuya kwamancane ama-capillary amancane; ke-ke, i-de-oxygenated igazi igeleza emangeni amancane kuya emithanjeni encane kuya emithanjeni emikhulu kuze ekugcineni ibe nemithanjeni emikhulu, njenge-vena cava ephezulu, futhi emuva kwenhliziyo, njll.
Ngokuphambene nalokho, uma i-AVM iqala, kukhona "i-tangle" engavamile yemithambo yegazi exhuma imishanguzo emithanjeni, engxenyeni ethile yomzimba, futhi lokhu kungaphazamisa ukugeleza kwegazi okujwayelekile nokujikelezwa kwe-oksijeni. Kunjengokuthi umgwaqo ophakathi kwamanye amazwe ungena endaweni yokupaka, lapho izimoto zijikeleza khona isikhashana ngaphambi kokuba zibuyele ngaphakathi, mhlawumbe ziqondiswe ngendlela engafanele.
Impact and Management of AVMs
Kubantu abane-HHT, ama-AVM angenzeka emaphashini, ebuchosheni nasesimweni esisha senzwa, nokusakazwa kwesibindi. Ama-AVM angakwazi ukuhlukana ukudala igazi elingavamile, okuholela ekushayweni, ukuphuma kwangaphakathi, kanye / noma i-anemia enamandla (okwanele ngokwanele amangqamuzana egazi abomvu, okubangelwa ukukhathala, ubuthakathaka nezinye izimpawu).
Lapho ama-AVM enza emaphashini kubantu abane-HHT, lesi simo angeke sithole ukunakekelwa kwezempilo kuze kube yilapho umuntu eneminyaka engu-30 noma ngaphezulu. Umuntu angaba ne-AVM emaphashini abo futhi angazi ngoba abanayo izimpawu. Ngaphandle kwalokho, abantu abane-AVM yamaphaphu bangathuthuka ngokungazelelwe ukuphuma kwegazi, bekhwehlela igazi. Ama-AVM angamafutha angabangela nokulimaza kakhulu, lapho ukulethwa kwe-oxygen emzimbeni kungaphansi, futhi umuntu uzizwa sengathi abakwazanga ukuthola umoya okwanele lapho elele embhedeni ebusuku (lesi sibonakaliso sivame kakhulu ngenxa yokungahambisani ne-HHT izimo, ezifana nokuhluleka kwenhliziyo, noma kunjalo). Okuthile okubizwa ngokuthi ama-paradoxical emboli, noma ama-clots egazi avela emaphashini kepha ahamba ebuchosheni, angabangela ukushaywa komuntu ku-HHT one-AVM emaphashini.
Ama-AVM emaphashini angaphathwa ngento ethiwa ukuhlanganiswa, lapho ukuvinjelwa kubangwa ngenhloso emithanjeni yegazi engavamile, noma ngokuhlinzwa, noma kungase kuhlanganiswe kokubili amasu.
Iziguli ezinama-AVM amaphaphu kufanele zithole isifo esifanayo se- CT ukuhlola ukukhula noma ukwakheka kabusha kwezizinda ezaziwayo zokuhlukunyezwa nokuthola ama-AVM amasha. Ukuhlolwa kwama-AVM amaphaphu kunconywa ngaphambi kokuthi ukhulelwe ngoba izinguquko kumzimba womama okuyingxenye evamile yokukhulelwa zingathinta i-AVM.
Abantu abangamaphesenti angu-70 abantu abane-HHT bakhuthaza ama-AVM esibindi. Ngokuvamile lezi-AVM zithulile futhi ziyoqaphelwa kuphela lapho kwenzeka iskena ngenxa yesinye isizathu. I-AVM esesibindi nayo ingase ibe yingozi kwezinye izimo, noma kunjalo, futhi ingaholela ezinkingeni zezinkanyezi nezinkinga ngenhliziyo, futhi ngokungajwayelekile, ukuhluleka kwesibindi okudinga ukufakelwa.
Ama-AVM kubantu abane-HHT abangela izinkinga ebuchosheni nasesimweni sezinzwa ngamaphesenti angaba ngu-10-15 kuphela, futhi lezi zinkinga zivame ukuphakama phakathi kwabantu abadala. Kanti futhi futhi, kukhona amandla okuqina, lapho ubuchopho nama-AVM omgogodla kungabangela ukubola kwesimiso uma kubhidlika.
Ubani Othintekayo?
I-HH isifo esiwumzimba esidluliselwa kubazali kuya ezinganeni ngendlela evelele, ngakho-ke noma ubani angase azuze i-disorder, kodwa ayifani neze. Imvamisa ifana nabo bobabili besilisa nabesifazane.
Ngokuvamile, kulinganiselwa ukuthi kwenzeka ku-1 kwabangu-8000 abantu, kodwa kuye ngokuthi ubuzwe bakho nobuciko bobuciko bakho, amazinga akho angaba ngaphezulu noma aphansi kakhulu. Isibonelo, amazinga okukhula kwabantu abakwa-Afro-Caribbean e-Antilles aseNetherlands (iziqhingi zase-Aruba, Bonaire, neCuraçao) anezinye izindleko eziphakeme, okulinganiselwa ku-1 kubantu abangu-1,331, ngenkathi efika enyakatho yeNgilandi Amazinga alinganiselwa ku-1 kwangu-39.22.
Ukuxilongwa
I-Curaçao yokuhlonza i-Curaçao, ebizwa ngokuthi isiqhingi saseCaribbean, ibhekisela kwisimiso esingasetshenziselwa ukucacisa amathuba okuba ne-HHT. Ngokwezizathu, ukuxilongwa kwe-HHT kuyacaca uma ngabe kunezigaba ezilandelayo ezingu-3 ezilandelayo, kungenzeka noma zisola ukuthi uma zikhona, futhi kungenzeka ukuthi zingaphansi kuka-2 zikhona:
- Ngokungajwayelekile, iphunga eliphindaphindiwe liphuma
- I-Telangiectasias: ama-multiple-spidery vein patches ezindaweni eziphawulekayo-izindebe, ngaphakathi komlomo, ngeminwe nasemakhaleni
- Ama-telangiectasias angaphakathi kanye nezinkinga: izinyembezi zezinyosi (noma ngaphandle kokuphuma) kanye nezinkinga ezingapheli (amaphaphu, isibindi, ubuchopho nomgogodla)
- Umlando womndeni: isihlobo sokuqala esilinganiselwe nge-telangiectasia ene-hemorrhagic
Izinhlobo
Ngokusho kokubuyekezwa kuka-2018 ngale ndaba kaKroon nozakwabo, izinhlobo ezingu-5 zohlobo lwe-HHT kanye ne-juvenile polyposis syndrome ne-HHT eyodwa ehlangene.
Ngokwesiko, izinhlobo ezimbili ezinkulu zichazwe: Uhlobo I luhlotshaniswa nezinguquko ezakhiweni ezibizwa ngokuthi i- endoglin gene. Loluhlobo lwe-HHT lubuye lube namazinga aphezulu we-AVM emaphashini noma kwi-AVMs ye-pulmonary. Uhlobo lwesibili luhlotshaniswa nezinguquko ezenzweni zofuzo ezibizwa ngokuthi i- activin-like kinase-1 gene (ACVRL1). Lolu hlobo lunamazinga aphansi we-AVMs we-pulmary and brain engqondweni kune-HHT1, kodwa izinga eliphezulu lama-AVM esibindi.
Ukuguqulwa kwezakhi zofuzo ku-chromosome 9 (HHT uhlobo 1) nakulo gciwane le-ACVRL1 ku-chromosome 12 (i-HHT hlobo 2) kokubili kuhlotshaniswa ne-HHT. Lezi zakhi zikholelwa ukuthi zibalulekile endleleni umzimba uqala ngayo futhi ulungise imithwalo yegazi. Akuyona elula njengezakhi zofuzo ezimbili, kodwa, akuzona zonke izimo ze-HHT ezivela ekushintsheni okufanayo. Imindeni eminingi ene-HHT inokushintshashintsha okuyingqayizivele. Ngokusho kocwaningo olwenziwa ngu-Prigoda nabalingani bakhe, manje abangaba khona, izikhathi ezingu-168 zashintshashintsha ku-genetic endoglin kanye nezinguquko ezingu-138 ze-ACVRL1 ezihlukile.
Ngaphezu kokuphela kwe-endoglin ne-ACVRL1, ezinye izakhi zofuzo eziningana ziye zahlotshaniswa ne-HHT. Ukuguqulwa kwesimo se-SMAD4 / MADH4 kuhlotshaniswa nesifo esihlangene sezinto okuthiwa i-juvenile polyposis ne-HHT. I-Juvenile polyposis syndrome, noma i-JPS, isimo esiyinzalo esithathwa ngokuba khona kokukhula okungenayo umdlavuza, noma ama-polyps, emaphethelweni emathunjini , ngokuvamile kuvolon. Ukukhula kungase kwenzeke nasesiswini, emathunjini amancane kanye ne-rectum. Ngakho-ke, kwezinye izimo, abantu banakho kokubili i-HHT ne-polyposis syndrome, futhi lokhu kubonakala sengathi kuhlotshaniswa nezinguquko ze-genetic SMAD4 / MADH4.
Ukuqapha nokuvimbela
Ngaphandle kokwelashwa kwama-telangiectasias nama-AVM njengoba kudingeka, kubalulekile ukuthi abantu abane-HHT bahlolwe, abanye ngokuseduze kunezinye. Udokotela Grand'Maison wagcwalisa ukubuyekezwa okuphelele kwe-HHT ngo-2009 futhi wahlongozwa uhlaka jikelele lokuqapha:
Ngonyaka ngamunye, kufanele kuhlolwe amathalenta amasha, ama-nosebleeds, ukuphuma kwamathumbu emathunjini, izimpawu zesifuba ezifana nokuphefumula noma ukukhwehlela igazi, kanye nezimpawu ze-neurologic. Ukuhlola igazi esitokisini kufanele kwenziwe njalo ngonyaka, njengoba kufanele ukuthi inani eliphelele legazi libone i-anemia.
Kuye kwanconywa ukuthi yonke imibhangqwana yeminyaka ebuntwaneni i- oxetry ye-pulse yenziwa ukuze ihlolwe ama-AVM emaphaphu, ilandelwe ukucabanga uma amazinga e-oxygen egazini ephansi. Lapho uneminyaka engu-10 ubudala, kunconywa ukuthi uhlelo lwe-cardiovascular system luhlolwe ukuhlola ama-AVM abalulekile angathinta ikhono lenhliziyo namaphaphu ukwenza imisebenzi yabo.
Kulabo abane-AVM abasungulwe emaphashini, ukuqapha okunconywayo kwenziwa kaningi nakakhulu. Ukuhlolwa kwesibindi kuma-AVM akubheki njengezinga eliphezulu kepha kungenziwa, kuyilapho i-MRI yobuchopho ingabandakanyi ama-AVM abalulekile kunconywa okungenani ngesinye isikhathi ngemuva kokutholakala kwe-HHT.
Investigational Treatments
I-Bevacizumab isetshenziselwe ukwelashwa komdlavuza ngoba yilamba yilamba, noma i-anti-angiogenic, therapy; lokhu kuvimbela ukukhula kwemithambo yegazi entsha, futhi lokhu kuhlanganisa imithwalo yegazi evamile nemithambo yegazi ezondla izicubu.
Esifundweni esanda kutholakala ngu Steineger kanye nozakwabo, iziguli ezingama-33 ezine-HHT zifakiwe ukuphenya imiphumela ye-bevacizumab kubantu abane-telangiectasia ekhaleni. Ngokwesilinganiso, isiguli ngasinye sinezijovo ezingu-6 ze-intranasal ze-bevacizumab (ububanzi, 1-16), futhi zibukelwe cishe iminyaka engaba ngu-3 kulolu cwaningo. Iziguli ezine azibonanga ngcono emva kokwelashwa. Iziguli eziyishumi nesishiyagalolunye zikhombisa ukuthuthukiswa kokuqala (izibalo ezingezansi kanye nesidingo esincane sokumpompela igazi), kodwa ukwelashwa kwaqedwa ngaphambi kokuphela kokutadisha ngoba umphumela waba mfushane ngokuqhubekayo naphezu kwezijovo eziphindaphindiwe. Iziguli ezingu-12 zaqhubeka zithola impendulo enhle ekwelapheni ekupheleni kwesifundo.
Akukho nemiphumela emibi yendawo eyabonwa, kodwa isiguli esisodwa sakhiwa i- osteonecrosis (isifo sezithenga esingasenza umkhawulo womzimba) emadolweni womabili ngesikhathi sokuphulukiswa. Abalobi baphetha ngokuthi injection ye-intranasal bevacizumab iyindlela yokwelapha ephumelelayo emanzini amaningi ajwayelekile futhi aqinile ama-nosebleeds ahlobene ne-HHT. Ubude bomphumela wezokwelapha behlukahluka kusuka kwesineke kuya kwesiguli, kodwa, nokuthuthukiswa kokumelana nokwelashwa kwakubonakala kuyinto evamile.
Ukuhlola
Ukuhlolwa kwesifo kuyindawo eguqukayo. Muva nje uKroon kanye nosebenza nabo bahlongozwa ukuthi ukuhlolwa okuhleliwe kwenziwe kwamagciwane anesifo se-HHT. Bancoma kokubili ukuhlolwa kwesimo somzimba kanye nezakhi zofuzo zeziguli ezisolakala ngeHHT ukuqinisekisa ukuxilongwa nokuvimbela izinkinga ezihlobene neHHT.
> Imithombo:
> Grand'Maison A. Hereditary telangiectasia. I-CMAJ. 2009; 180 (8): 833-835.
> Kroon S, Snijder RJ, Faughnan ME, et al. Ukuhlola ngokuhlelekile kwe-telangiectasia enezifo ezibucayi: ukubuyekezwa. I-Curr Opin Pulm Med . Feb 20; 2018. ini: 10.1097 / MCP.0000000000000472. [I-Epub ngaphambi kokuphrinta].
> Prigoda NL, Savas S, Abdalla SA, et al. I-telangiectasia ene-haemorrhagic haemorrhag: ukuguqulwa kokuguquguquka, ukuzwela ukuzwela kanye nezinguquko zanamuhla. J Med Genet. 2006; 43 (9): 722-728.
> Steineger J, Osnes T, Heimdal K, et al. Ukwaziswa kwesikhathi eside nge-intranasal therapy ye-bevacizumab. I-Laryngoscope. 2018; Feb 22. i: 10.1002 / lary.27147. [I-Epub ngaphambi kokuphrinta].