Icyo Hereditary Hemorrhagic Telangiectasia (HHT) Ari Cyo? Ibimenyetso, Intandaro, n'Ubuvuzi

Hereditary Hemorrhagic Telangiectasia, cyangwa HHT, ni indwara iherwa mu miryango iterwa na gène, igira ingaruka ku mitsi y'amaraso mu mubiri wose. Abantu bafite HHT bagira imitsi y'amaraso itarimo gukura neza mu gihe cy'ubuto, ikaba ihuriza hamwe imitsi itwara amaraso ava mu mutima n'imitsi imugarura mu mutima idaciye mu mitsi mito mito yitwa capillaries.

Iyi ndwara mbere yari izwi nka Osler-Weber-Rendu syndrome, izina ryavuye ku baganga bayimenye bwa mbere. Nubwo HHT ifatwa nk'indwara idasanzwe, igaragara kuri umwe kuri 5000 ku isi hose, ushobora gutangazwa no kumenya ko abantu benshi bayirwaye batanabizi.

HHT Ni Iki Koko?

HHT itera ihuriro ritari ryo ry'imitsi y'amaraso ryitwa arteriovenous malformations, cyangwa AVMs mu magambo magufi. Tekereza ku mitsi yawe isanzwe nk'umuhanda wateguwe neza aho amaraso acururukira mu mitsi minini, hanyuma akagenda mu mitsi mito mito yitwa capillaries, hanyuma akajya mu mitsi imugarura mu mutima.

Muri HHT, bimwe muri ayo mahuriro bihuza imitsi itwara amaraso ava mu mutima n'imitsi imugarura mu mutima bidaciye muri capillaries. Aya mahuriro ashobora kuba amanini cyangwa mato ku ruhu no mu mumaso, cyangwa ashobora kuba manini mu ngingo z'imbere nk'imifuka, umwijima, cyangwa ubwonko.

Amahuliro mato agaragara nk'ibice by'umutuku cyangwa umukara bito byitwa telangiectasias. Urashobora kubibona ku minwa, ururimi, intoki, no mu mazuru. Amahuliro manini, yitwa AVMs, akenshi aba mu ngingo z'imbere kandi ashobora gutandukana cyane mu bunini n'ingaruka.

Ni Ibihe Bimenyetso bya HHT?

Ikimenyetso gisanzwe kandi kiba ari cyo cya mbere ushobora kubona ni ukurakara kenshi kw'amazuru, mu mvugo y'abaganga bikaba bitwa epistaxis. Aya si amaraso asanzwe ava mu mazuru rimwe na rimwe, ahubwo ni amaraso ava kenshi, ashobora kuba inshuro nyinshi mu cyumweru cyangwa buri munsi.

Dore ibimenyetso by'ingenzi abantu bafite HHT bagira:

• Kurakara kenshi kw'amazuru bishobora kuba byinshi kandi bigorana guhagarika
• Ibicupa by'umutuku cyangwa umukara bito ku minwa, ururimi, intoki, cyangwa mu maso
• Guhumeka nabi mu gihe cy'imikino
• Uburwayi butari bwo mu gihe cy'imikino
• Ubuke bw'amaraso kubera kubura amaraso buhoraho

Bamwe bashobora kugira ibimenyetso bifitanye isano na AVMs mu ngingo zimwe na zimwe. Niba ufite AVMs mu mifuka, ushobora guhumeka nabi cyangwa kubabara mu kifuba. AVMs mu bwonko, nubwo bidafite akenshi, bishobora gutera ububabare bw'umutwe, guta ubwenge, cyangwa gutakaza ubwenge gato.

Ni ngombwa kumva ko ibimenyetso bya HHT bishobora gutandukana cyane hagati y'abantu bo mu muryango umwe, ndetse n'abafite ubwoko bumwe bwa gène. Bamwe bagira ibimenyetso bito bidakora ku buzima bwabo bwa buri munsi, abandi bashobora gukenera ubuvuzi bukomeye.

Ni Ibihe Bwoko bya HHT?

HHT ifite ubwoko butandukanye bwa gène, ubwoko bubiri busanzwe ari HHT1 na HHT2. Buri bwoko buterwa n'impinduka z'imiterere ya gène zitandukanye, ariko zigira ibimenyetso bimwe na bimwe bifitanye isano.

HHT1, iterwa n'impinduka z'imiterere ya gène ENG, ikunda gutera AVMs mu mifuka no mu bwonko. Abantu bafite ubu bwoko bakunda kugira ibimenyetso bikomeye byo guhumeka nabi kandi bafite amahirwe menshi yo kugira AVMs mu mifuka zisaba gukurikiranwa no kuvurwa.

HHT2, ifitanye isano n'impinduka z'imiterere ya gène ACVRL1, ikunda kugira ingaruka ku mwijima kandi ikunda gutera AVMs mu mwijima. Ariko kandi, abantu bafite HHT2 bashobora kugira AVMs mu mifuka, ariko bike kurusha abafite HHT1.

Hariho kandi ubwoko buke, harimo HHT3 na HHT4, ndetse na bimwe mu bihe aho intandaro ya gène itaramenyekana. Ibi bigize igipimo gito cy'ibibazo bya HHT ariko bishobora kugira imico yabyo bwite.

Ni Iki Gitera HHT?

HHT iterwa n'impinduka z'imiterere ya gène zifasha kugenzura uko imitsi y'amaraso ikura kandi ikomeza. Aya magène asanzwe akora nk'amabwiriza yo kubaka imitsi y'amaraso ikozwe neza, ariko iyo ahinduwe, amabwiriza ahinduka.

Iyi ndwara ikurikiza icyo abaganga bita autosomal dominant inheritance pattern. Ibi bivuze ko ukeneye gusa guherwa kopi imwe ya gène yahindutse kuva ku mubyeyi umwe kugira ngo ugire HHT. Niba umwe mu babyeyi bawe afite HHT, ufite amahirwe 50% yo kuyiherwa.

Rimwe na rimwe, HHT ishobora kuba impinduka nshya, bivuze ko nta mubyeyi ufite iyo ndwara ariko impinduka ya gène yabaye mu gihe cy'ubuto. Aya mashoka adasanzwe ni make ariko abaho, agize hafi 20% by'ibibazo bya HHT.

Magène akunze kugaragara harimo ENG, ACVRL1, na SMAD4. Aya magène asanzwe afasha uturemangingo gutumanaho neza mu gihe cyo gukura kw'imitsi y'amaraso, bityo imitsi itwara amaraso ava mu mutima, capillaries, n'imitsi imugarura mu mutima bihuze neza.

Ni Ryari Wagomba Kubona Muganga kubera HHT?

Wagomba gutekereza kubona muganga niba ufite kurakara kenshi kw'amazuru, cyane cyane niba bigenda bikomeye cyangwa biba inshuro nyinshi mu cyumweru. Nubwo kurakara kw'amazuru rimwe na rimwe ari ibisanzwe, kurakara kenshi kudakora ku buzima bwawe bwa buri munsi bisaba ubuvuzi.

Shaka ubuvuzi niba ubona ibicupa by'umutuku cyangwa umukara bito bigenda bigaragara ku minwa, ururimi, cyangwa intoki, cyane cyane niba ufite amateka y'umuryango afite ibimenyetso nk'ibyo. Aya telangiectasias, hamwe no kurakara kenshi kw'amazuru, ni ibimenyetso byambere bya HHT.

Wagomba gushaka ubuvuzi bwihuse niba ufite guhumeka nabi kudasanzwe, kubabara mu kifuba, ububabare bukomeye bw'umutwe, cyangwa ibindi bimenyetso by'ubwonko nk'impinduka z'ubuhumekero cyangwa intege nke. Ibi bishobora kugaragaza ingaruka za AVMs mu mifuka cyangwa mu bwonko bisaba isuzuma ryihuse.

Niba ufite amateka y'umuryango wa HHT, ni byiza kuganira n'umuganga wawe ku bijyanye n'ubuvuzi bwa gène no gusuzuma, nubwo udafite ibimenyetso bigaragara. Kumenya hakiri kare bishobora gufasha kwirinda ingaruka binyuze mu gukurikirana neza no kwitaho kwirinda.

Ni Ibihe bintu byongera ibyago bya HHT?

Ikintu nyamukuru cyongera ibyago bya HHT ni ukugira amateka y'umuryango w'iyo ndwara. Kubera ko HHT ikurikiza autosomal dominant inheritance pattern, kugira umubyeyi umwe urwaye biguha amahirwe 50% yo kuyiherwa.

Ibyago byawe byiyongera cyane niba abantu benshi bo mu muryango wawe baragize kurakara kenshi kw'amazuru, ubuke bw'amaraso budasobanuka, cyangwa barwaye AVMs mu mifuka, umwijima, cyangwa ubwonko. Rimwe na rimwe, abantu bo mu muryango bashobora kuba baragize ibimenyetso ariko ntibabone ubuvuzi bukwiye.

Imyaka ishobora kugira uruhare mu gihe ibimenyetso bigaragara. Nubwo HHT ibaho kuva umuntu avutse, ibimenyetso bikunda kuba bibi uko umuntu akura. Kurakara kw'amazuru bishobora gutangira mu bwana, mu gihe AVMs mu ngingo zishobora kutazigaragaza ibimenyetso kugeza mu bukure.

Gutwita rimwe na rimwe bishobora kongera ibimenyetso bya HHT kubera kwiyongera kw'amaraso n'impinduka z'imisemburo. Abagore bafite HHT bashobora kugira kurakara kenshi cyangwa bikomeye kw'amazuru mu gihe cyo gutwita kandi bashobora gukenera gukurikiranwa hafi.

Ni Izihe ngaruka zishoboka za HHT?

Nubwo abantu benshi bafite HHT babayeho ubuzima busanzwe, iyi ndwara ishobora gutera ingaruka nyinshi zisaba ubuvuzi buhoraho. Kumva ibyo bishoboka bishobora kugufasha gukorana n'itsinda ryawe ry'abaganga kugira ngo ubirinde cyangwa ubigenzure neza.

Ingaruka zisanzwe harimo:

• Ubuke bw'amaraso kubera kubura amaraso buhoraho binyuze mu kurakara kw'amazuru
• AVMs mu mifuka bishobora gutera guhumeka nabi cyangwa, gake, gutakaza ubwenge
• AVMs mu mwijima bishobora kugira ingaruka ku mikorere y'umwijima uko umuntu akura
• AVMs mu bwonko bishobora gutera ububabare bw'umutwe, guta ubwenge, cyangwa ibimenyetso by'ubwonko
• Gutakaza imbaraga z'umutima kubera AVMs mu mwijima mu bihe bikomeye

AVMs mu mifuka zikwiye kwitabwaho cyane kuko zishobora kureka amaraso cyangwa udukoko guca mu nzira y'umwuka idaciye mu nzira isanzwe y'umwuka. Ibi bituma hari ibyago bike byo gutakaza ubwenge cyangwa indwara y'ubwonko, niyo mpamvu abantu bafite AVMs mu mifuka bakunda guhabwa imiti irinda indwara mbere y'ibikorwa by'amenyo.

Mu bihe bidafite akenshi, AVMs nini mu mwijima zishobora gutuma umutima ukora cyane, bishobora gutera gutakaza imbaraga z'umutima nyuma y'imyaka myinshi. AVMs mu bwonko, nubwo bidafite akenshi, rimwe na rimwe zishobora kwangirika kandi zigatera amaraso mu bwonko, nubwo ibi bidafite akenshi.

HHT Ishobora Kwibwa Gute?

Kubera ko HHT ari indwara iherwa mu miryango, ntushobora kuyirinda niba uherwa magène yahindutse. Ariko kandi, ushobora gufata ingamba zo kwirinda ingaruka no gucunga ibimenyetso neza umaze kumenya ko ufite iyo ndwara.

Niba uteganya kubyara kandi ufite HHT cyangwa amateka y'umuryango w'iyo ndwara, ubuvuzi bwa gène bushobora kugufasha kumva ibyago n'amahirwe. Ibizamini bya gène mbere y'uko umwana avuka bihari niba ushaka kumenya niba umwana wawe azaherwa iyo ndwara.

Mu gucunga HHT iriho, kwirinda byibanda ku kwirinda ibikorwa bishobora gutera kurakara bikomeye kw'amazuru no kugira ubuzima bwiza muri rusange. Ibi birimo gukoresha umwuka w'ubushyuhe, kwirinda gukura amazuru, no kwitonda mu gihe ukoresha ijisho.

Gukurikirana buri gihe ubuvuzi ni ingenzi mu kwirinda ingaruka zikomeye. Ibi bisanzwe birimo isuzuma ry'amashusho buri gihe kugira ngo harebwe AVMs nshya no gukurikirana urwego rw'amaraso kugira ngo hirindwe ubuke bukabije bw'amaraso.

HHT Imenyekana Gute?

Abaganga bamenya HHT bakoresheje ibimenyetso by'abaganga n'ibizamini bya gène. Imenyezwa ry'indwara rikunze gutangira no kumenya ibimenyetso, cyane cyane ihuriro rya kurakara kenshi kw'amazuru na telangiectasias zidasanzwe.

Curacao Criteria ikoreshwa mu kumenya HHT ishingiye ku bintu bine by'ingenzi: kurakara kenshi kw'amazuru, telangiectasias ahantu hasanzwe, AVMs mu ngingo z'imbere, n'amateka y'umuryango wa HHT. Kugira ibintu bitatu cyangwa birenga bigaragaza ko indwara ihamye.

Ibizamini bya gène bishobora kwemeza indwara no kumenya ubwoko bwa HHT ufite. Aya makuru afasha abaganga kumva ingaruka ushobora kugira kandi bategura gahunda yo gusuzuma.

Muganga wawe ashobora kandi gutegeka isuzuma ry'amashusho nka CT scans cyangwa MRI kugira ngo arebe AVMs mu mifuka, umwijima, cyangwa ubwonko. Echocardiogram hamwe n'isuzuma ry'imyuka ikoreshwa cyane mu gusuzuma AVMs mu mifuka, kuko ari isuzuma ryiza kandi ridafite ingaruka.

Ni iki kivura HHT?

Ubuvuzi bwa HHT bugamije gucunga ibimenyetso no kwirinda ingaruka aho kugira ngo ikire. Gahunda yawe y'ubuvuzi izahujwa n'ibimenyetso byawe n'aho AVMs ufite ziri.

Kubera kurakara kw'amazuru, ubuvuzi butangira ku buryo bworoshye bwo gutera amazi kugeza ku buryo bukomeye. Amahitamo harimo amazi ya saline mu mazuru, umwuka w'ubushyuhe, imiti yo hanze, laser therapy, cyangwa gufunga amazuru mu bihe bikomeye.

Dore uburyo nyamukuru bwo kuvura:

• Kongerera ibyuma n'amaraso kubera ubuke bw'amaraso
• Embolization procedures kugira ngo dufungure AVMs zituma haboneka ibibazo
• Kubaga kugira ngo hakurweho AVMs zishobora kubagwa
• Imiti igabanya amaraso
• Imiti irinda indwara mbere y'ibikorwa by'amenyo cyangwa ibindi bikorwa by'abaganga

AVMs nini mu mifuka zivurwa cyane na embolization, uburyo bukoreshwa imigozi mito cyangwa ibintu bito bifunga uhuza butari bwo. Ibi bikorwa nk'ubuvuzi butari ubwo mu bitaro kandi bishobora kugabanya cyane ibyago byo gutakaza ubwenge cyangwa izindi ngaruka.

AVMs mu mwijima zikurikiranwa aho kuvurwa keretse ziterwa n'ibibazo by'umutima. AVMs mu bwonko zisaba isuzuma ry'inzobere mu kubaga ubwonko kugira ngo hamenyekane niba ubuvuzi bukenewe kandi butekanye.

Uburyo bwo gucunga HHT murugo?

Kubaho neza ufite HHT bisobanura kugira imyifatire ya buri munsi igabanya ibimenyetso kandi ikagabanya ibyago by'ingaruka. Abantu benshi basanga impinduka nto mu buzima zishobora kugira uruhare rukomeye mu mibereho yabo.

Mu gucunga kurakara kw'amazuru, komeza amazuru yawe ashyushye ukoresheje amazi ya saline cyangwa umwuka w'ubushyuhe, cyane cyane mu gihe cy'imbeho. Shyiraho uruhu rwo hanze rw'amavuta cyangwa gel mu mazuru mbere yo kuryama kugira ngo wirinde gukama no gucika.

Iyo amaraso ava mu mazuru, kanda igice cyoroheje cy'amazuru iminota 10-15. Irinde kumanika umutwe inyuma, kuko ibi bishobora gutuma amaraso amanuka mu muhogo kandi bigatera isereri.

Kora isuzuma ry'imbaraga zawe kandi urebe ibimenyetso by'ubuke bw'amaraso nk'uburwayi budasanzwe, guhumeka nabi, cyangwa uruhu rwera. Kora isuzuma ry'ubwinshi n'uburemere bwa kurakara kw'amazuru kugira ngo ubiganireho n'abaganga bawe mu gihe cy'ibisuzumwa.

Komeza ubuzima bwiza, harimo no gusukura amenyo n'isuzuma ry'amashusho ryateganijwe. Niba ufite AVMs mu mifuka, ibuka gufata imiti irinda indwara mbere y'ibikorwa by'amenyo kugira ngo wirinda kwandura.

Uburyo bwo kwitegura gusura muganga?

Kwitegura gusura muganga kubera HHT bishobora gufasha kugira ngo ubone ubuvuzi burambuye. Tangira ukora ibitabo by'ibimenyetso byawe, harimo ubwinshi, igihe, n'uburemere bwa kurakara kw'amazuru.

Kora isuzuma ry'amateka y'ubuzima bw'umuryango wawe, cyane cyane abantu bo mu muryango wawe bagize kurakara kenshi kw'amazuru, ubuke bw'amaraso budasobanuka, ibibazo by'imifuka, cyangwa gutakaza ubwenge mu myaka mito. Aya makuru ashobora kuba ingenzi mu kumenya indwara no mu buvuzi bwa gène.

Zana urutonde rw'imiti yose ukoresha ubu, harimo imiti yo hanze n'imiti y'imiti. Imiti imwe ishobora kugira ingaruka ku maraso, bityo muganga wawe akeneye kumenya neza ibyo ukoresha.

Andika ibibazo byose ufite ku bijyanye n'indwara yawe, uburyo bwo kuvura, cyangwa impinduka mu buzima. Ntugatinye kubabaza ibibazo ku bijyanye n'ubuvuzi bwa gène niba uteganya kubyara cyangwa niba abandi bantu bo mu muryango wawe bashobora kugira ingaruka.

Icyo ukwiye kumenya kuri HHT?

HHT ni indwara iherwa mu miryango ishobora gucungwa igira ingaruka ku gukura kw'imitsi y'amaraso mu mubiri wose. Nubwo ishobora gutera ibimenyetso bibi nk'kurakara kenshi kw'amazuru kandi isaba gukurikiranwa buri gihe, abantu benshi bafite HHT babayeho ubuzima buhamye, bufite ubuzima bwiza.

Ikintu nyamukuru cyo kubaho neza ufite HHT ni ukumenya indwara hakiri kare, gukurikirana buri gihe ingaruka, no gukorana n'itsinda ry'abaganga bamenyereye iyo ndwara. Ibimenyetso byinshi bishobora gucungwa neza hifashishijwe ubuvuzi bukwiye n'impinduka mu buzima.

Niba ukekako ushobora kuba ufite HHT ishingiye ku bimenyetso cyangwa amateka y'umuryango, ntutinye kubiganiraho n'umuganga wawe. Kumenya hakiri kare no gucunga neza bishobora kwirinda ingaruka zikomeye kandi bikongera ubuzima bwawe.

Ibuka ko kugira HHT bidategeka uko ubuzima bwawe bugenda. Hamwe n'ubuvuzi bukwiye n'uburyo bwo kwicunga, ushobora gukora ibyo wifuza kandi ukagira ubuzima bwiza muri rusange mu gihe ugenzura iyi ndwara.

Ibibazo byakenshi bibazwa kuri HHT

HHT itera urupfu?

Ku bantu benshi, HHT ntiterwa urupfu, ariko isaba gucungwa buri gihe. Ibyago nyamukuru bivuye ku ngaruka zishoboka nk'AVMs nini mu mifuka cyangwa AVMs mu bwonko, zigira ingaruka ku gice gito cy'abantu bafite HHT. Hamwe no gukurikirana neza no kuvura, abantu benshi bafite HHT bagira ubuzima busanzwe.

Ibimenyetso bya HHT bishobora kuba bibi uko umuntu akura?

Yego, ibimenyetso bya HHT bikunda kwiyongera uko umuntu akura. Kurakara kw'amazuru bishobora kuba byinshi cyangwa bikomeye uko umuntu akura, kandi AVMs nshya zishobora kugaragara mu ngingo zitandukanye. Niyo mpamvu gukurikirana buri gihe ari ingenzi, kuko kumenya hakiri kare AVMs nshya bituma ubuvuzi buhabwa igihe.

Ndagomba kwirinda ibikorwa bimwe na bimwe niba mfite HHT?

Abantu benshi bafite HHT bashobora gukora ibikorwa bisanzwe, ariko bamwe mu myitwarire ishobora kugirwa inama. Niba ufite AVMs mu mifuka, muganga wawe ashobora kugira inama yo kwirinda koga mu mazi adafite umwuka kubera impinduka z'umuvuduko. Imikino ikomeye ishobora kudakurwaho niba ufite AVMs mu bwonko, ariko ibyo bibazo bigenwa n'umuntu ku giti cye.

Gutwita bishobora kugira ingaruka ku bimenyetso bya HHT?

Gutwita bishobora kongera ibimenyetso bya HHT by'igihe gito kubera kwiyongera kw'amaraso n'impinduka z'imisemburo. Kurakara kw'amazuru bishobora kuba byinshi, kandi AVMs iriho ishobora kuba nini. Ariko kandi, hamwe n'ubuvuzi bwiza bw'abagore batwite no gukurikirana, abagore benshi bafite HHT bagira gutwita neza.

Ibizamini bya gène ni ngombwa ku bantu bo mu muryango?

Ibizamini bya gène bishobora gufasha abantu bo mu muryango, cyane cyane niba bafite ibimenyetso cyangwa bateganya kubyara. Ariko kandi, icyemezo ni icy'umuntu ku giti cye kandi kigomba kuba kirimo ubuvuzi bwa gène kugira ngo hamenyekane inyungu n'ibyago byo gusuzuma. Bamwe mu bantu bakunda kwibanda ku gukurikirana ibimenyetso aho gukora ibizamini bya gène.