Matenda otchedwa telangiectasia, kapena HHT, ndi matenda omwe amachititsa mitsempha ya magazi. Matenda otchedwa Osler-Weber-Rendu, HHT amachititsa zizindikiro ndi mawonetseredwe omwe angasinthe kwambiri munthu ndi munthu.
N'zotheka kukhala ndi HHT komanso osadziwa kuti muli nawo, ndipo anthu ena amayamba kupezeka atakhala ndi mavuto aakulu chifukwa cha HHT.
Pafupifupi 90 peresenti ya anthu omwe ali ndi HHT adzakhala ndi mphuno zowonongeka, koma zovuta zambiri zimakhalanso zofala. Mavuto akuluakulu amadalira paliponse pamene mitsempha yambiri yamagazi imapezeka ndipo imakhala ndi magazi enieni komanso kupwetekedwa, koma HHT ikhoza kukhala chete kwa zaka zambiri.
Kodi HHT N'chiyani?
HHT ndi mkhalidwe wobadwa nawo umene umakhudza mitsempha yanu ya magazi m'njira zomwe zingayambitse zolakwika zomwe zingakhale zosalakwa kwambiri kuti zitha kupha moyo pamene mutenga moyo wanu wonse. Ngakhale zizindikiro ndi zizindikiro zingakhalepo msanga, nthawi zambiri zimakhala zovuta kwambiri kuti zisapitirire mpaka atakwanitsa zaka 30.
Pali mitundu iwiri yambiri ya mavuto a mitsempha yomwe ingakhudze anthu omwe ali ndi HHT:
- Telangiectasias
- Maganizo olakwika, kapena AVMs.
Telangiectasia
Mawu akuti telangiectasia amatanthauza gulu la mitsempha yaing'ono yamagazi (capillaries ndi tizilombo ting'onoting'ono) zomwe zasokonezeka kwambiri.
Ngakhale kuti zimatha kupanga mbali zosiyanasiyana za thupi, ma telangiectasias amawoneka mosavuta, ndipo ambiri amaganiza kuti amawoneka pafupi ndi khungu, nthawi zambiri pamaso kapena pa ntchafu, nthawi zina amatchedwa "mitsempha yamagulu" kapena "mitsempha yosweka."
Zitha kuonanso pamagulu amtundu wambiri, monga m'kati mwa pakamwa pamasaya, m'kamwa, ndi pamilomo.
Zimakhala zofiira kapena zowonongeka m'ng'oma, ndipo zikuwoneka ngati zowomba, ulusi wophimba, kapena mawonekedwe azitsamba.
Mphamvu ndi Utsogoleri wa Telangiectasia
Mankhwala a telangiectasia a khungu ndi mazira (mchere wonyezimira wa pakamwa ndi milomo) ndi ofala pakati pa odwala omwe ali ndi HHT. The telangiectasias zimakhala zikuchitika pamene munthu ali wamng'ono ndikukula ndi ukalamba. Kutsekemera kumachitika kumalo amenewa, koma kawirikawiri kumakhala kofatsa komanso kosavuta. Nthawi zina amagwiritsira ntchito laser ablation therapy ngati akufunika.
Mankhwala a Telangiectasias a m'mphuno-m'makina a mphepo-ndi chifukwa chake nosebleeds amapezeka kwambiri kwa anthu omwe ali ndi HHT. Pafupifupi 90 peresenti ya anthu omwe ali ndi HHT ali ndi mphuno zowonongeka. Nosebleeds ikhoza kukhala yofatsa kapena yowopsya komanso yowonjezereka, yomwe imayambitsa kuchepa kwa magazi ngati sichilamuliridwa. Anthu ambiri omwe ali ndi HHT amapanga nosebleeds asanakwanitse zaka 20, koma msinkhu wawo umatha kusiyana pang'ono, monga momwe kungakhalire kovuta.
M'matumbo a m'mimba, telangiectasias amapezeka pafupifupi 15 mpaka 30 peresenti ya anthu omwe ali ndi HHT. Zitha kukhala magwero a kutuluka m'magazi, komabe izi zimachitika kawirikawiri asanakwanitse zaka 30. Zochizira zimasiyana malinga ndi kuuma kwa magazi komanso wodwalayo. Iron supplementation ndi kuikidwa magazi monga momwe zingakhalire zingakhale gawo la ndondomeko; mankhwala otchedwa estrogen-progesterone ndi mankhwala a laser angagwiritsidwe ntchito kuchepetsa kuopsa kwa magazi ndi kufunikira kwa kuikidwa magazi.
Matenda osokoneza bongo (AVM)
Mavuto olakwika, kapena AVMs, amaimira mtundu wina wa misampha ya mitsempha ya magazi, yomwe imachitika m'katikati mwa mitsempha, m'mapapo, kapena chiwindi. Angakhalepo pakubalidwa ndi / kapena pakapita nthawi.
Ma AVM amaonedwa kuti alibe malingaliro chifukwa amatsutsana motsatira dongosolo lomwe mitsempha ya mthupi imatsatira nthawi zambiri kuti apereke oxygen kumatenda ndi kutulutsa carbon dioxide m'mapapo, kuti athe kutuluka: Magazi a okosijeni amachokera m'mapapo ndi mtima, aorta, mpaka mitsempha yambiri, mitsempha yaing'ono ya arterioles komanso mabomba ang'onoang'ono mpaka pamtunda wazing'ono kwambiri; ndiye, magazi otuluka m'magazi amapita m'mitsempha yaing'ono kupita ku mitsempha yaying'ono kupita ku mitsempha yayikulu mpaka pamtunda waukulu, monga vena cava wamkulu, ndi kubwerera kumtima, ndi zina zotero.
Mosiyana ndi zimenezi, pamene AVM ikukula, pali mitsempha yambiri ya mitsempha yomwe imayambitsa mitsempha ya mitsempha, mbali ina ya thupi, ndipo izi zikhoza kusokoneza kayendedwe ka magazi ndi mpweya wabwino. Zili ngati kuti msewu wodutsa mumsewu mwadzidzidzi umalowetsa magalimoto, pomwe magalimoto amayendayenda kwa kanthawi asanabwerere kumbali, mwina kuti ayende molakwika.
Mphamvu ndi Utsogoleri wa AVMs
Kwa anthu omwe ali ndi HHT, ma AVM angathe kuchitika m'mapapu, m'maganizo ndi pakatikati pa mitsempha, ndi chiwindi. Ma ARV amatha kuphulika kuti awononge magazi, omwe amachititsa kudwala, kutuluka m'magazi, ndi / kapena kuchepa kwa magazi m'thupi (osati maselo ofiira amagazi okwanira, omwe amachititsa kufooka, kufooka, ndi zizindikiro zina).
Pamene ma AVM amapanga m'mapapo mwa anthu omwe ali ndi HHT, vutoli silingadwale mpaka munthuyo ali ndi zaka 30 kapena kuposerapo. Munthu akhoza kukhala ndi AVM m'mapapu awo ndipo sakudziwa chifukwa alibe zizindikiro. Mwinanso, anthu omwe ali ndi AVM mapapu angathe kukudziwitsani mwadzidzidzi kutuluka kwa magazi kwakukulu, kukakamira magazi. Mawonekedwe a AVM angayambitsenso mowonjezereka, komwe kutuluka kwa mpweya ku thupi kumakhala kochepa, ndipo munthuyo amamva ngati sangathe kupeza mpweya wokwanira pamene agona usiku (chizindikirochi chimakhala chofala chifukwa chosagwirizana ndi HHT zinthu, monga mtima wosagonjetsa, komabe). Chinachake chotchedwa paradoxical emboli, kapena magazi omwe amachokera m'mapapu koma kupita ku ubongo, angayambitse khunyu kwa munthu yemwe ali ndi HHT yemwe ali ndi mapiritsi.
Ma ARV amatha kuchiritsidwa ndi chinthu china chotchedwa embolization, chomwe chimapangidwira mwachangu mitsempha yambiri yamagazi, kapena opaleshoni, kapena pangakhale kuphatikiza kwa njira ziwirizo.
Odwala omwe ali ndi mapiritsi a mapapu ayenera kulandira chifuwa cha CT nthawi zonse kuti azindikire kukula kapena kubwezeretsanso malo odziwika bwino a malformation komanso kupeza ma AVM atsopano. Kuyeza ma ARV a mapapu kumalimbikitsidwanso musanakhale ndi pakati chifukwa kusintha kwa thupi la mayi omwe ali gawo labwino la mimba kumakhudza AVM.
Ambiri mwa anthu 70 pa 100 alionse omwe ali ndi HHT amapanga ma AVM pachiwindi. Kawirikawiri AVM izi zimakhala chete ndipo zidzangowonongeka pokhapokha ngati kuthandizira kwachitika chifukwa china. Ma AVM pachiwindi amakhalanso ovuta nthawi zina, komabe amatha kuyambitsa mavuto ndi mtima, ndipo kawirikawiri, chiwindi choperewera chimafuna kusuntha.
Ma AVM kwa anthu omwe ali ndi HHT amachititsa mavuto mu ubongo ndi mitsempha mwa magawo 10 mpaka 15 pa milandu, ndipo mavutowa amayamba pakati pa anthu okalamba. Apanso, apo pali kuthekera kwa kuuma, kumene ubongo ndi AVMs zamkati zimatha kuyambitsa mliri wowonongeka ngati ataphulika.
Ndani Amakhudzidwa?
HHT ndi matenda a chibadwa omwe amachokera kwa makolo kupita kwa ana mwachangu, kotero aliyense angalandire matendawa, koma ndi ochepa. Nthawi zambiri amafanana ndi amuna ndi akazi.
Zonsezi, zikuyembekezeka kuti zikuchitika pafupifupi 1 pa anthu 8000, koma malingana ndi mtundu wanu ndi maonekedwe anu, mabala anu akhoza kukhala apamwamba kapena otsika kwambiri. Mwachitsanzo, kuchuluka kwa chiwerengero cha anthu a Afro-Caribbean makolo ku Netherlands Antilles (zilumba za Aruba, Bonaire, ndi Curaçao) zili ndi mitengo yapamwamba kwambiri, ndi chiwerengero cha 1 mwa anthu 1,331, pamene ali kumpoto kwa England. malire amayerekeza pa 1 pa 39,216.
Kudziwa
Zomwe amagwiritsira ntchito Curaçao, zomwe zimatchulidwa pachilumba cha Caribbean, zimagwiritsa ntchito ndondomeko yomwe ingagwiritsidwe ntchito pofuna kupeza mwayi wokhala ndi HHT. Malingana ndi momwe ziriri, kuti matenda a HHT ndi otsimikizika ngati 3 mwazifukwa izi zilipo, zingatheke kapena zikuwoneka ngati 2 alipo, ndipo zikutheka ngati osachepera 2 alipo:
- Mwachidziwitso, mphuno yatsopano imachotsedwa
- Mankhwala a Telangiectasias: mazenera ambirimbiri, omwe amawoneka pamasitomawa, milomo, mkati, pakamwa ndi pamphuno
- Matenda a telangiectasias ndi ziphuphu: ziwalo za m'mimba telangiectasias (kapena popanda kutuluka magazi) ndi ziphuphu zoopsa (mapapo, chiwindi, ubongo ndi msana)
- Mbiri ya banja: chiwerengero cha digiri yoyamba ndi telakectasia yobadwa mwachibadwa
Mitundu
Malinga ndi ndemanga ya 2018 pa nkhaniyi ndi Kroon ndi anzake, mitundu 5 ya majeremusi ya HHT ndi imodzi ya ana a polyposis syndrome ndi HHT amadziwika.
Mwachikhalidwe, mitundu iwiri ikuluikulu yakhala ikufotokozedwa: Mtundu Woyamba umagwirizanitsidwa ndi kusintha kwa jini mumtundu wotchedwa endoglin gene. Mtundu uwu wa HHT umakhalanso ndi ma high AVMs m'mapapo kapena AVMs. Mtundu 2 umagwirizanitsidwa ndi kusintha kwa jini mumtundu wotchedwa activin receptor-like kinase-1 jini (ACVRL1). Mtundu umenewu uli ndi ma ARV ochepa kwambiri kuposa a HHT1, koma apamwamba kwambiri a AVMs pachiwindi.
Kusintha kwa jini pamtundu wa chromosome 9 (HHT mtundu 1) ndi mu ACVRL1 jini pa chromosome 12 (HHT mtundu 2) onsewa akugwirizana ndi HHT. Mankhwalawa amakhulupirira kuti ndi ofunikira momwe thupi limakhalira ndi kukonzanso mitsempha yake ya magazi. Sizophweka ngati majini awiri, komatu, sikuti zonse zomwe zimachitika mu HHT zimachokera kusintha komweko. Mabanja ambiri omwe ali ndi HHT ali ndi kusintha kosiyana. Malinga ndi kafukufuku wa Prigoda ndi anzako, omwe panopa angakhale nawo, kusintha kwapadera 168 mu endoglin gene ndi 138 kusintha kosiyana kwa ACVRL1 kunanenedwa.
Kuphatikiza pa endoglin ndi ACVRL1, majini ena ambiri agwirizanitsidwa ndi HHT. Zosinthika m'magulu a SMAD4 / MADH4 zakhala zikugwirizana ndi matenda ophatikizana a chinachake chomwe chimatchedwa mwana wa polyposis ndi HHT. Matenda aang'ono a polyposis, kapena JPS, ndilo cholowa chodziwika ndi kukhalapo kosakhala ndi khansa, kapena mapiritsi, m'matumbo a m'mimba , omwe amapezeka m'matumbo. Zowonjezereka zimatha kupezeka m'mimba, m'mimba mwazing'ono komanso m'matumbo. Kotero, nthawi zina, anthu ali ndi HHT ndi polyposis syndrome, ndipo izi zikuwoneka kuti zikugwirizana ndi kusintha kwa SMAD4 / MADH4.
Kuwunika ndi Kuteteza
Kuwonjezera pa chithandizo cha telangiectasias ndi ma AVM ngati n'kofunika, ndikofunikira kuti anthu omwe ali ndi HHT ayang'anire, ena mochuluka kuposa ena. Dokotala Grand'Maison anamaliza bwino kuwonetsa HHT mu 2009 ndipo adalongosola njira yaikulu yowunika:
Chaka ndi chaka, payenera kukhala cheke ya telangiectasias yatsopano, mphuno zakumphuno, kutuluka kwa m'mimba, zizindikiro za chifuwa monga kupuma pang'ono kapena kukhetsa magazi, ndi zizindikiro za m'mimba. Kufufuza magazi mu choponderetsanso kuyenera kuchitidwa pachaka, momwemonso kuwerengera kwa magazi kwathunthu kudzazindikira kuchepa kwa magazi.
Zimalimbikitsidwa kuti zaka zingapo zilizonse zaunyamata zitha kuchitidwa kuti ziwonetsere ma AVM amapapu, zotsatiridwa ndi ziganizo ngati ma okosijeni m'magazi ali otsika. Ndili ndi zaka 10, kupweteka kwa mtima kumalimbikitsa kuyang'ana ma AVM akuluakulu omwe angakhudze mphamvu ya mtima ndi mapapo kuti achite ntchito zawo.
Kwa omwe ali ndi ma AVM okhazikika m'mapapu, kuyang'anitsitsa kotereku kumachitika mobwerezabwereza. Kuwonetsa chiwindi kwa AVMs sikupangidwe kwambiri koma kungathe kuchitidwa, pamene ubongo wa MRI umachotsa ma AVM akuluakulu mwakachetechete kamodzi kokha pambuyo poti matenda a HHT apangidwa.
Mankhwala Ofufuza
Bevacizumab wakhala akugwiritsidwa ntchito ngati khansa yothandizira chifukwa ndi chotupa cha njala, kapena chithandizo chotsutsana ndi angiogeni; Zimalepheretsa kukula kwa mitsempha yatsopano, ndipo izi zimaphatikizapo mitsempha yambiri yamagazi ndi mitsempha ya magazi yomwe imadyetsa zotupa.
Mu kafukufuku waposachedwa ndi Steineger ndi anzake, odwala 33 omwe ali ndi HHT anaphatikizidwa kuti afufuze zotsatira za bevacizumab kwa anthu okhala ndi mphuno ya telangiectasia. Pafupipafupi, wodwala aliyense anali ndi jekeseni 6 wa intraasal ya bevacizumab (range, 1-16), ndipo amawonetsedwa kwa pafupifupi zaka zitatu mu phunziro lino. Odwala anayi sanawonetsere kusintha pakapita chithandizo. Odwala khumi ndi anayi adayamba kusintha (zochepa zozizwitsa komanso zochepa zowonjezera kuikidwa magazi), koma chithandizocho chinatha chisanafike mapeto a phunziro chifukwa zotsatirazi zinayamba pang'onopang'ono ngakhale kukhala ndi jekeseni mobwerezabwereza. Odwala khumi ndi awiri adapitirizabe kulandira chithandizo pa mapeto a phunziroli.
Palibe zotsatira zowonongeka zowonongeka, koma wodwala wina anapanga osteonecrosis (matenda a mafupa omwe angachepetse ntchito zolimbitsa thupi) m'mawondo onse awiri pa nthawi ya chithandizo. Olembawo anapeza kuti jekeseni wa bevacizumab yosafunikira kwambiri ndi mankhwala othandiza kwambiri m'mapiritsi ambiri omwe amadziwika bwino a HHT. Kutha kwa zotsatira za chithandizochi kunasiyana pakati pa wodwala ndi wodwala, komabe, komanso kukula kwa kukana mankhwalawo kunkawoneka ngati kofala.
Kuwunika
Kuwunika kwa matendawa ndi dera lomwe likukula. Posachedwapa Kroon ndi anzake adalimbikitsa kuti kuyang'ana mwachidwi kuchitidwe kwa odwala omwe akuganiza kuti ndi HHT. Amapereka chithandizo cha ma ARV ndi odwala omwe amawoneka kuti ali ndi HHT kuti atsimikizidwe kuti ali ndi matendawa komanso kuti athetse mavuto okhudzana ndi HHT.
> Zotsatira:
> Grand'Maison A. Hereditary hemorrhagic telangiectasia. CMAJ. 2009; 180 (8): 833-835.
> Kroon S, Snijder RJ, Faughnan ME, ndi al. Kuwunika mwatsatanetsatane ku telangiectasia yachilengedwe yosautsa. Curr Opin Pulm Med . Feb 20; 2018. do: 10.1097 / MCP.0000000000000472. [Epub patsogolo pa kusindikiza].
> Kupitiliza NL, Savas S, Abdalla SA, et al. Matenda a telangiectasia omwe ali ndi hadeorasitic: kutulukira kusinthika, kuyesa kuyesa ndi kusintha kwasintha. J Med Genet. 2006; 43 (9): 722-728.
> Steineger J, Osnes T, Heimdal K, ndi al. Zomwe zimakhalapo kwa nthawi yayitali ndi mankhwala a intranasal bevacizumab. Laryngoscope. 2018; Feb 22. Chitani: 10.1002 / lary.27147. [Epub patsogolo pa kusindikiza].