He aha te Hereditary Hemorrhagic Telangiectasia (HHT)? Tohutohu, Take, me te Maimoatanga

Ko te Hereditary Hemorrhagic Telangiectasia, ko te HHT rānei, he āhuatanga ira tuku iho e pā ana ki ōu oko toto puta noa i tō tinana. Ko te hunga e pangia ana e te HHT, he oko toto kāhore i hanga tika i te wā o te whanaketanga, e hanga ana i ngā hononga tika i waenganui i ngā ātere me ngā uenuku, kāhore ngā kapiliti iti noa i waenganui.

I karangatia tēnei āhuatanga i mua ko te mate Osler-Weber-Rendu, i whakaingoatia ki ngā tākuta i whakaatu tuatahi. Ahakoa he āhuatanga onge te HHT, e pā ana ki te 1 i roto i te 5,000 o te tangata puta noa i te ao, ka miharo pea koe ki te mohio kei te noho maha o te iwi me te kore e mohio kei a rātou.

He aha tonu te HHT?

Ka hanga e te HHT ngā hononga oko toto rerekē e kiia nei ko ngā arteriovenous malformations, ko ngā AVMs rānei. Whakaarohia ō oko toto noa rite ki te pūnaha huarahi pai te whakarite, kei reira te toto e rere ana i ngā ātere nui, mā ngā huarahi iti e kiia nei ko ngā kapiliti, katahi ka uru ki ngā uenuku e kawe ana i te toto ki tō ngakau.

Ki te HHT, ka toia etahi o ēnei hononga i ngā “huarahi” kapiliti, e hanga ana i ngā huarahi tika i waenganui i ngā ātere me ngā uenuku. Ka taea e ēnei huarahi poto te iti i runga i tō kiri me ngā kiri pupuhi, te nui rānei i roto i ngā whekau penei i ō ngā manawa, ate, te roro rānei.

Ka puta ngā hononga rerekē iti ake hei pūngāwerewere whero, pango ranei e kiia nei ko ngā telangiectasias. Ka kite pea koe i ēnei i runga i ō ngutu, arero, ngā matimati, i roto i tō ihu rānei. Ko ngā hononga nui ake, e kiia nei ko ngā AVMs, ka whanake pea i roto i ngā whekau o roto, ka rereke haere te rahi me te pānga.

He aha ngā tohu o te HHT?

Ko te tohu tino noa, ko te tohu tuatahi pea ka kite koe, ko te toto ihu pinepine, e kiia nei ko te epistaxis. Kāhore ēnei he toto ihu noa i te wā, engari he maha ngā wā i te wiki, i te rā rānei.

Ko ēnei ngā tohu matua e pā ana ki te HHT:

• Te toto ihu pinepine ka nui pea, ka uaua ki te mutu
• Ngā pūngāwerewere whero, pango ranei i runga i ō ngutu, arero, ngā matimati, kanohi rānei
• Te poto o te manawa i te wā e mahi tinana ana
• Te ngenge e kore e rite ki tō taumata mahi
• Te mate toto iti na te ngaro o te toto tonu

Ka pā pea etahi atu tohu ki ētahi atu tangata e pā ana ki ngā AVMs i roto i ngā whekau motuhake. Ki te whai koe i ngā AVMs manawa, ka poto pea tō manawa, ka mamae pea tō uma. Ko ngā AVMs roro, ahakoa he iti ake te noa, ka mate pōtae, ngā mate manawa, ngā mate iti rānei.

He mea nui kia mārama ko ngā tohu HHT ka rereke haere i waenganui i ngā mema whānau, ahakoa ko te momo ira kotahi. He ngāwari ngā tohu o ētahi, kāhore rātou e pā ki o rātou oranga o ia rā, engari ka hiahia pea ētahi atu ki te whakahaere hauora nui ake.

He aha ngā momo HHT?

He maha ngā momo ira o te HHT, ko ngā momo tino noa ko te HHT1 me te HHT2. Ko ia momo i puta mai i ngā rerekētanga i roto i ngā ira rerekē, engari ka hanga e rātou ngā tohu rite tonu me ētahi rerekētanga nui.

Ko te HHT1, i puta mai i ngā rerekētanga i roto i te ira ENG, ka nui ake te mate o ngā AVMs manawa me te roro. Ka nui ake te mate o te hunga e pangia ana e tēnei momo i ngā tohu manawa, me te nui ake te tūponotanga o te whanaketanga o ngā AVMs manawa e hiahia ana ki te tirotiro me te maimoatanga.

Ko te HHT2, e hono ana ki ngā rerekētanga i roto i te ira ACVRL1, ka pā nuitia ki te ate, ka nui ake te mate o ngā AVMs ate. Engari, ka taea tonu e te hunga e pangia ana e te HHT2 te whanaketanga o ngā AVMs manawa, he iti ake te noa i te hunga e pangia ana e te HHT1.

He momo onge ake ano, tae atu ki te HHT3 me te HHT4, me ētahi take kaore ano kia kitea te take ira motuhake. Ko ēnei te iti ake o ngā take HHT, engari ka taea e rātou ngā āhuatanga motuhake.

He aha ngā take o te HHT?

Ko te HHT i puta mai i ngā rerekētanga i roto i ngā ira e āwhina ana ki te whakahaere i te whanaketanga o ngā oko toto me te pupuri i a rātou. Ko ēnei ira te tikanga he pukapuka tohutohu mō te hanga i ngā hononga oko toto hauora, engari ki te whakarerekētia, ka whakapohehetia ngā tohutohu.

Ko te āhuatanga e whai ana i te mea e kiia ana e ngā tākuta he tauira tuku ira autosomal dominant. Ko te tikanga, kotahi noa te kape o te ira whakarerekē i te mātua kotahi hei whanaketanga i te HHT. Ki te whai tetahi o ō mātua i te HHT, he 50% te tūponotanga o te tuku ki a koe.

I etahi wā, ka taea e te HHT te puta hei rerekētanga hou, ko te tikanga kāhore tetahi o ngā mātua e whai ana i te āhuatanga, engari i puta he whakarerekētanga ira i te wā o te whanaketanga. He iti ake te noa o ēnei take whakamutunga, engari ka puta, e 20% o ngā take HHT.

Ko ngā ira tino pānga ko te ENG, ACVRL1, me te SMAD4. Ko ēnei ira te tikanga e āwhina ana i ngā pūtau ki te korero tika i te wā o te hanga oko toto, e whakarite ana i te hononga tika o ngā ātere, kapiliti, me ngā uenuku.

Nōhea koe me haere ki te tākuta mō te HHT?

Me whakaaro koe ki te haere ki te tākuta ki te pāngia koe e te toto ihu pinepine, ina koa ki te kaha ake, ki te maha atu rānei i te wā i te wiki. Ahakoa he noa te toto ihu i etahi wā, ko te mau tonu e āwangawanga ana i tō oranga o ia rā he mea nui kia whakarongohia e te hauora.

Rapua te tiaki hauora ki te kite koe i ngā pūngāwerewere whero, pango rānei e whanake ana i runga i ō ngutu, arero, ngā matimati rānei, ina koa ki te whai koe i te hītori whānau o ngā tohu rite. Ko ēnei telangiectasias, me te toto ihu pinepine, he tohu tuatahi o te HHT.

Me rapu wawe koe i te tiaki hauora ki te pāngia koe e te poto o te manawa, te mamae o te uma, te mamae o te pōtae, tetahi tohu neurological rānei penei i ngā whakarerekētanga tirohanga, te ngoikore rānei. Ka taea e ēnei te tohu i ngā raruraru mai i ngā AVMs i roto i ō manawa, roro rānei e hiahia ana ki te aromatawai wawe.

Ki te whai koe i te hītori whānau o te HHT, he mea tika te kōrero ki te kaiwhakaako ira me te tirotiro me tō kaiwhakarato hauora, ahakoa kāhore koe e whai tohu marama. Ka taea e te kite wawe te āwhina i te aukati i ngā raruraru mā te tirotiro tika me te tiaki aukati.

He aha ngā take tūpono mō te HHT?

Ko te take tūpono matua mō te HHT ko te whai hītori whānau o te āhuatanga. Na te whai a te HHT i te tauira tuku ira autosomal dominant, ko te whai i tetahi mātua e pāngia ana e hoatu ana ki a koe te 50% te tūponotanga o te tuku i te āhuatanga.

Ka nui ake tō tūpono ki te maha o ngā mema whānau kua pāngia e te toto ihu pinepine, te mate toto iti kaore i te marama, te mate rānei o ngā AVMs manawa, ate, roro rānei. I etahi wā, ka whai tohu ngā mema whānau, engari kāhore i whiwhi i te tautuhi tika.

Ka taea e te tau te awe i te wā e puta ai ngā tohu. Ahakoa kei te noho te HHT mai i te whānau, ka kaha ake ngā tohu i te wā. Ka tīmata pea te toto ihu i te tamarikitanga, engari kaore pea ngā AVMs whekau e tohu kia tae ra ano ki te pakeketanga.

Ka taea e te hapu te kaha ake i ngā tohu HHT na te nui ake o te toto me ngā whakarerekētanga homoni. Ka nui ake pea te mate o ngā wahine e pangia ana e te HHT i te toto ihu i te wā o te hapu, me te hiahia pea ki te tirotiro tata.

He aha ngā raruraru pea o te HHT?

Ahakoa he maha ngā tangata e pangia ana e te HHT e ora ana i ngā oranga noa, ka taea e te āhuatanga te arahi ki ngā raruraru maha e hiahia ana ki te tiaki hauora tonu. Ko te mārama ki ēnei tūponotanga ka taea te āwhina i a koe ki te mahi tahi me tō rōpū hauora ki te aukati, ki te whakahaere rānei i a rātou.

Ko ēnei ngā raruraru tino noa:

• Te mate toto iti na te ngaro o te toto roa mā te toto ihu
• Ngā AVMs manawa ka mate poto te manawa rānei, he iti te mate, te mate manawa rānei
• Ngā AVMs ate ka pā pea ki te mahi ate i te wā roa
• Ngā AVMs roro ka mate pōtae, ngā mate manawa, ngā tohu neurological rānei
• Te kore o te ngakau nui mai i ngā AVMs ate i ngā take kino

He mea nui kia whakarongohia ngā AVMs manawa, na te mea ka taea e rātou te tuku i ngā toto kōtiti, ngā huaketo rānei ki te toia te pūnaha whakakāo noa o ngā manawa. Ka hanga tēnei i te iti o te tūpono o te mate manawa, te mate roro rānei, koia te take i whiwhi ai ngā tangata e whai ana i ngā AVMs manawa i ngā rongoā aukati i mua i ngā mahi niho.

I etahi wā onge, ka taea e ngā AVMs ate nui te kaha ake te mahi o te ngakau, ka arahi pea ki te kore o te ngakau i roto i ngā tau maha. Ko ngā AVMs roro, ahakoa he iti ake te noa, ka taea te pakaru i etahi wā, ka puta te toto i roto i te roro, ahakoa he iti te noa.

Me pēhea te aukati i te HHT?

Na te mea he āhuatanga ira tuku iho te HHT, kāore koe e taea te aukati i te puta mai ki te tuku koe i ngā ira whakarerekē. Engari, ka taea e koe te mahi hei aukati i ngā raruraru me te whakahaere i ngā tohu pai i te wā ka mohio koe kei a koe te āhuatanga.

Ki te whakaaro koe ki te whānau tamariki me te whai koe i te HHT, te hītori whānau rānei, ka taea e te tohutohu ira te āwhina i a koe ki te mārama ki ngā tūpono me ngā kōwhiringa. Kei te wātea te whakamātautau ira i mua i te whānau ki te hiahia koe ki te mohio mēnā ka tuku tō pēpi i te āhuatanga.

Mō te whakahaere i te HHT kei te noho, ko te aukati e aro ana ki te karo i ngā mahi ka pāngia pea e te toto ihu kino, me te pupuri i te hauora pai. Ka uru atu ki te whakamahi i te humidifier, te karo i te toia ihu, me te ngawari i te wā e pupuhi ana tō ihu.

He mea nui te tirotiro hauora tonu mō te aukati i ngā raruraru kino. Ka uru pea tenei ki ngā rangahau whakaahua i ia wā ki te tirotiro i ngā AVMs hou me te tirotiro i ngā taumata rino hei aukati i te mate toto iti kino.

Me pēhea te tautuhi i te HHT?

Ka tautuhi ngā tākuta i te HHT mā te whakamahi i te whakakotahitanga o ngā tikanga hauora me te whakamātautau ira. Ka tīmata pea te tautuhi mā te kite i te tauira o ngā tohu, ina koa te whakakotahitanga o te toto ihu pinepine me ngā telangiectasias tohu.

Ka whakamahia ngā Tikanga Curacao hei tautuhi i te HHT i runga i ngā āhuatanga matua e whā: te toto ihu pinepine, ngā telangiectasias i ngā wāhi tohu, ngā AVMs visceral, me te hītori whānau o te HHT. Ko te whai i te toru atu rānei o ngā tikanga ka tino tautuhi.

Ka taea e te whakamātautau ira te whakau i te tautuhi me te tautuhi i te momo HHT kei a koe. Ka āwhina tēnei mōhio ki ngā tākuta ki te mārama ki ngā raruraru pea ka nui ake te tūpono ki te whanaketanga me te whakarite i ngā kaupapa tirotiro tika.

Ka tono pea tō tākuta i ngā rangahau whakaahua penei i ngā CT scans, MRI rānei ki te rapu i ngā AVMs i roto i ō manawa, ate, roro rānei. He mea noa te whakamahi i te echocardiogram me te ako pupuhi hei tirotiro i ngā AVMs manawa, na te mea he haumaru, he whai hua te whakamātautau tuatahi.

He aha te maimoatanga mō te HHT?

Ko te maimoatanga mō te HHT e aro ana ki te whakahaere i ngā tohu me te aukati i ngā raruraru, kāore i te whakaora i te āhuatanga taketake. Ka whakaritea tō mahere maimoatanga ki ō tohu motuhake me ngā wāhi o ngā AVMs pea kei a koe.

Mō te toto ihu, ko ngā maimoatanga mai i ngā mahi whakamakuku ngāwari ki ngā mahi matatau ake. Ko ngā kōwhiringa ko ngā horoi tote ihu, te whakamakuku, ngā maimoatanga o waho, te rongoā laser, ngā mahi kati ihu rānei i ngā take kino.

Ko ēnei ngā huarahi maimoatanga matua:

• Te tāpiri rino me ngā whakawhānuitanga toto mō te mate toto iti
• Ngā mahi embolization hei aukati i ngā AVMs raruraru
• Te tango pokanga o ngā AVMs e taea te whakauru ki te tika
• Ngā rongoā hei whakaiti i ngā tūponotanga toto
• Ngā rongoā aukati i mua i ngā mahi niho, pokanga rānei

Ko ngā AVMs manawa nui te tikanga ka maimoatia mā te embolization, he mahi kei reira ngā kōiwi iti, ngā pūtu rānei e whakanohoia ana hei aukati i te hononga rerekē. Ko te tikanga ka mahia tēnei hei mahi ā-waho, ka taea te whakaiti nui i te tūpono o te mate manawa, ngā raruraru rānei.

Ko ngā AVMs ate te tikanga ka tirotirohia kāore i te maimoatia, ki te kore rātou e pāngia ana e ngā raruraru ngakau. Ko ngā AVMs roro e hiahia ana ki te aromatawai ata whaiaro e ngā tohunga pokanga neurological hei whakatau mēnā he mea tika te maimoatanga, he haumaru rānei.

Me pēhea te whakahaere i te HHT i te kāinga?

Ko te ora pai me te HHT e whakauru ana ki te whanaketanga o ngā tikanga o ia rā e whakaiti ana i ngā tohu me te whakaiti i tō tūpono o ngā raruraru. Ka kite te nuinga o te iwi ko ngā whakarerekētanga noho ngāwari ka taea te hanga i te rerekētanga nui ki o rātou kounga ora.

Mō te whakahaere toto ihu, pupuri i ō ara ihu makuku mā te whakamahi i ngā pūhaumā te tote, te humidifier rānei, ina koa i te wā maroke. Tāpirihia he paparanga angiangi o te hinu hinu, te kete ihu rānei ki roto i ō pongaponga ihu i mua i te moe hei aukati i te maroke me te pakaru.

Ki te puta te toto ihu, tōia ki mua, me te piri i te wahi ngawari o tō ihu mō te 10-15 meneti. Karohia te tōia o tō ūtū ki muri, na te mea ka taea e tēnei te rere o te toto ki raro i tō korokoro, ka mate pea te ruaki.

Tirohia ō taumata kaha, me te mataara i ngā tohu o te mate toto iti penei i te ngenge, te poto o te manawa, te kiri mawhero rānei. Tūtohu i tō auau me te kino o te toto ihu ki te kōrero ki tō rōpū hauora i te wā e haere ana.

Pupuri i te rā me te tiaki aukati, tae atu ki ngā horoi niho me ngā rangahau whakaahua e taunakitia ana. Ki te whai koe i ngā AVMs manawa, mahara ki te tango i ngā rongoā aukati i mua i ngā mahi niho hei aukati i ngā mate pea.

Me pēhea te whakarite mō tō hui tākuta?

Ko te whakarite mō ō hui hauora e pā ana ki te HHT ka taea te āwhina i te whakarite ka whiwhi koe i te tiaki tino whānuitia. Tīmata mā te pupuri i te raupapa tohu e tūtohu ana i ō toto ihu, tae atu ki tō auau, roa, me te kino.

Kohikohia tō hītori hauora whānau, ina koa te tohu i ngā whānau kua whai toto ihu pinepine, mate toto iti kaore i te marama, raruraru manawa, mate manawa rānei i te tau iti. Ka taea e tēnei mōhio te nui mō te tautuhi me te tohutohu ira.

Kawe mai he rārangi o ō rongoā katoa, tae atu ki ngā taapiri me ngā huaora. Ka taea e ētahi rongoā te pā ki ngā tūponotanga toto, no reira e hiahia ana tō tākuta ki te whakaahua katoa o te mea kei te tango koe.

Tuhia ngā pātai kei a koe mō tō āhuatanga, ngā kōwhiringa maimoatanga, ngā whakarerekētanga noho rānei. Kaua e whakaroa ki te ui mō te tohutohu ira ki te whakaaro koe ki te whānau tamariki, ki te pāngia rānei ētahi atu mema whānau.

He aha te mea nui mō te HHT?

Ko te HHT he āhuatanga ira tuku iho e taea te whakahaere e pā ana ki te hanga oko toto puta noa i tō tinana. Ahakoa ka taea e ia te hanga i ngā tohu raruraru penei i te toto ihu pinepine me te hiahia ki te tirotiro hauora tonu, ko te nuinga o te iwi e pangia ana e te HHT e ora ana i ngā oranga tino ora, mahi rānei me te tiaki tika.

Ko te matua mō te ora pai me te HHT ko te tautuhi wawe, te tirotiro tonu mō ngā raruraru, me te mahi tata me te rōpū hauora e mohio ana ki te āhuatanga. Ka taea te whakahaere pai i ngā tohu maha mā ngā maimoatanga tika me ngā whakarerekētanga noho.

Ki te whakaaro koe pea kei a koe te HHT i runga i ngā tohu, te hītori whānau rānei, kaua e whakaroa ki te kōrero ki tō kaiwhakarato hauora. Ka taea e te kite wawe me te whakahaere tika te aukati i ngā raruraru kino, me te whakapai ake i tō kounga ora.

Mahara ko te whai i te HHT kāhore e whakatau i ngā herenga o tō oranga. Me te tiaki hauora tika me ngā rautaki whakahaere whaiaro, ka taea e koe te whai i ō whāinga me te pupuri i te hauora pai i te wā e whakahaere ana i tēnei āhuatanga.

Ngā pātai pinepine mō te HHT

He mate mate te HHT?

Mō te nuinga o te iwi, ehara te HHT i te mate mate tonu, engari e hiahia ana ki te whakahaere hauora tonu. Ko ngā tūpono matua mai i ngā raruraru pea penei i ngā AVMs manawa nui, ngā AVMs roro rānei, e pā ana ki te iti o te iwi e pangia ana e te HHT. Me te tirotiro tika me te maimoatanga, ko te nuinga o te iwi e pangia ana e te HHT e whai ana i ngā oranga roa noa.

Ka kaha ake rānei ngā tohu HHT i te wā roa?

Ae, ka kaha ake ngā tohu HHT i te wā roa. Ka nui ake pea te auau, te kino rānei o te toto ihu i te wā e pakeke ana, ka taea te whanaketanga o ngā AVMs hou i roto i ngā whekau maha. Koia te take he mea nui te tirotiro tonu, na te mea ka taea e te kite wawe o ngā AVMs hou te tuku i te maimoatanga tika ki te hiahiatia.

Me karo rānei ahau i ētahi mahi ki te whai ahau i te HHT?

Ka taea e te nuinga o te iwi e pangia ana e te HHT te whakauru ki ngā mahi noa, engari ka taea te taunaki i ētahi tūpato. Ki te whai koe i ngā AVMs manawa, ka taunaki pea tō tākuta ki te karo i te tūtaki na te whakarerekētanga o te pehanga. Ka taea te whakakore i ngā hākinakina hono ki te whai koe i ngā AVMs roro, engari ko ēnei herenga e rite ana ki tō āhuatanga motuhake.

Ka pāngia rānei ngā tohu HHT e te hapu?

Ka taea e te hapu te kaha ake i ngā tohu HHT i te wā poto na te nui ake o te toto me ngā whakarerekētanga homoni. Ka nui ake pea te auau o te toto ihu, ka nui ake pea ngā AVMs kei te noho. Engari, me te tiaki wawe tika me te tirotiro, ko te nuinga o ngā wahine e pangia ana e te HHT e whai ana i ngā hapu angitu.

He mea tika te whakamātautau ira mō ngā mema whānau?

Ka taea te āwhina i te whakamātautau ira mō ngā mema whānau, ina koa ki te pāngia rātou e ngā tohu, ki te whakaaro rānei ki te whānau tamariki. Engari, he whakaaro whaiaro te whakatau me te whakauru i te tohutohu ira ki te mārama ki ngā painga me ngā herenga o te whakamātautau. Ka pai pea ētahi ki te aro ki te tirotiro tohu, kāore i te whakamātautau ira.