Totoina o le hemandhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) o se tupuʻaga faʻaletonu o ala toto e mafai mafua mafua tele toto.

O le HHT e faʻasolo atu i aiga i se autosomal domant pattern. O lona uiga o le kenera kenera e manaʻomia mai naʻo le tasi matua ina ia mafai ai ona mautofi i le faʻamaʻi.

Ua faʻailoa mai e saienitisi genes e fa o loʻo aʻafia i lenei tulaga. O nei genes uma e foliga mai e taua mo toto toto e atiaʻe lelei. O le fesuiaʻiga i soʻo se tasi o nei genes e nafa ma le HHT.

Tagata e iai le HHT e mafai ona tupu aʻe ni toto le masani ai ile tele o vaega ole tino. O nei vaʻa ua faʻaigoaina o le faaletonu o le tino (AVMs).

Afai latou te i luga o le paʻu, e taʻua latou o telangiectasias. O nofoaga masani e aofia ai laugutu, laulaufaiva, taliga ma tamailima. E mafai foi ona tupu le toto e le masani ai ile faiʻai, mama, ate, manava, poʻo isi vaega.

Faʻailoga o lenei faʻamaʻi aofia ai:

• Foaifoa soʻo i tamaiti
• Toto i le gastrointestinal tract (GI), e aofia ai le leiloa o le toto i le nofoa, poʻo pogisa pe uliuli sitepu
• Faoa po o le le faʻamatalaina, laʻitiiti (mai le tafe toto i le faiʻai)
• Manava le mānava
• Faʻateleina le ate
• Le lava le fatu
• Anemia mafua mai i le maualalo uʻamea

O le tausi soifua maloloina o le a faia se faʻataʻitaʻiga tino ma fesili e uiga i ou faʻailoga. E mafai e se tautua tuʻuina atu ona mauaina telangiectases i le taimi o se faʻataʻitaʻiga tino. E masani ona i ai se aiga talaʻaga o lenei tulaga.

O suʻega e aofia ai:

• Toto kasa kesi
• Tofotofoga toto
• Faʻataʻitaʻiga faʻataʻitaʻi o le fatu ua taʻua o le echocardiogram
• Endoscopy, o loʻo faʻaaogaina ai se tamaʻi mea puʻe ata puʻe faʻapipiʻi i se paipa manifinifi e vaʻai i totonu o lou tino
• MRI e iloa ai AVM i le faiʻai
• CT poʻo ultrasound suʻesuʻe e faʻailoa AVMs i le ate

O loʻo avanoa le suʻega ole genetic e vaʻai ai mo suiga i genes e fesoʻotaʻi ma lenei faʻamaʻi.

Togafitiga mafai ona aofia ai:

• Taotoga e togafitia ai le toto i nisi eria
• Electrocautery (faʻamafanafana aano i le eletise) poʻo leisa taotoga e togafitia ai soo po o mamafa mamafa isu
• Endolar embolization (tuiina o se vailaʻau ala i se manifinifi paipa) e togafitia faaletonu toto toto i le faiai ma isi vaega o le tino

Nisi tagata tali atu i estrogen togafitiga, lea e mafai ona faʻaititia vaega toto. E mafai foi ona tuʻuina atu le uʻamea pe a fai e tele le leiloa o le toto, e oʻo atu i le le lava o le toto. Aloese mai le inuina o fualaʻau faʻapalapala le toto. O ni vailaʻau e afaina ai le atinaʻeina o le toto, o loʻo suʻesuʻeina pe a fai o ni togafitiga i le lumanaʻi

Nisi tagata ono manaʻomia le tagofia o vailaʻau faʻafomaʻi oona i luma o faia nifo poʻo taʻotoga. Tagata e iai AVM mama e tatau ona 'aloʻalo i le suavaia o le vai e puipuia ai faʻamaʻi o le decompression (o le loloʻu). Fesili i lau tautua poʻo a nisi faʻatonuga e tatau ona e faia.

O nei fesoasoani e mafai ona maua ai nisi faʻamatalaga i luga o le HHT:

• Nofoaga autu mo le Faʻatonutonuina ma Faʻamaʻi Faamaʻi - www.cdc.gov/ncbddd/hht
• Fofo HHT - curehht.org
• Faʻalapotopotoga a le Atunuʻu mo gasegase seasea - rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia

Tagata e maua i lenei faʻamaʻi e mafai ona ola i se olaga atoa masani, fuafua i le mea i le tino o loʻo tu ai AVM.

O nei faʻalavelave e mafai ona tupu:

• Le lava le fatu
• Toto maualuga i le māmā (toto pulmonary)
• Toto i totonu
• Manava le mānava
• Pa

Valaʻau lau tautua pe a fai o oe poʻo lau tama e tele taimi e tafetoto ai lou isu poʻo isi faʻailoga o lenei faʻamaʻi.

Ole faufautua faufautua e fautuaina mo ulugaliʻi e manaʻo e fai se fanau ma o loʻo iai se talafaʻasolopito ole aiga ole HHT. Afai o loʻo ia te oe lenei tulaga, togafitiga faʻafomaʻi mafai ona puipuia nisi ituaiga o stroke ma le fatu faʻaletonu.

HHT; Osler-Weber-Rendu syndrome; Osler-Weber-Rendu faʻamaʻi; Rendu-Osler-Weber syndrome

• Faiga faʻasolosolo
• Alatoto o le faiʻai

Brandt LJ, Aroniadis OC. Faʻaletonu vaskular o le gastrointestinal tract. I totonu: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger ma Fordtran's Gastrointestinal ma le Maʻi o le ate. 10 ed. Filatelefaia, PA: Elsevier Saunders; 2016: mata 37.

Cappell MS, Lebwohl O. Hereditary hemorrhagic telangiectasia I: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Togafitiga o le Paʻu Faamai: Auiliili togafitiga togafitiga. 4th ed. Filatelefaia, PA: Elsevier Saunders; 2014: mata 98.

McDonald J, Pyeritz RE. Totoina o le hemandhagic telangiectasia. I: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Initaneti]. Seattle, WA: Iunivesite o Uosigitone, Seattle; 1993-2019. Faʻafouina Fepuari 2, 2017. Avanoa ia Me 6, 2019.