Telangectasia hemorrhagic hoʻoiho

ʻO ka herangi hemorrhagic telangiectasia (HHT) kahi maʻi hoʻoilina o nā kīʻaha koko i hiki ke kumu i ke kahe nui.

Hoʻoholo ʻia ʻo HHT ma waena o nā ʻohana i kahi kumumanaʻo autosomal. ʻO kēia ka mea e pono ai ka gen abnormal mai hoʻokahi makua wale nō i mea e ili ai ka maʻi.

Ua ʻike nā ʻepekema ʻehā mau gen i pili i kēia ʻano. ʻO kēia mau ʻāpana āpau he mea nui i nā kīʻaha koko e hoʻomohala pono. ʻO kahi mutation i kekahi o kēia mau ʻāpana ke kuleana no HHT.

Hiki i nā poʻe me HHT ke hoʻomohala i nā kīʻaha koko ʻokoʻa ma nā wahi he nui o ke kino. Kapa ʻia kēia mau moku i nā malformations arteriovenous (AVMs).

Inā lākou ma ka ʻili, ua kapa ʻia lākou he telangiectasias. ʻO nā pūnaewele maʻamau ka lehelehe, alelo, pepeiao, a me nā manamana lima. Hiki i nā kīʻaha koko ʻokoʻa ke hoʻomohala i ka lolo, akemāmā, ate, ʻōpū, a i ʻole nā ​​wahi ʻē aʻe.

ʻO nā ʻōuli o kēia maʻi pū kekahi:

• ʻO nā nosebleeds pinepine i nā keiki
• Kahe i ka gastrointestinal tract (GI), me ka nalowale ʻana o ke koko i ka pahu, a i ʻole nā ​​ʻeleʻele ʻeleʻele a ʻeleʻele paha.
• ʻO ka hopu ʻana a i ʻole wehewehe ʻole ʻia, nā kaha liʻiliʻi (mai ke kahe ʻana o ke kahe i ka lolo)
• Pokole o ka hanu
• Ake akea
• Hewa puʻuwai
• Hoʻokumu ʻia ka anemia e ka hao haʻahaʻa

E hana ka mea mālama ola i kahi hoʻokolokolo kino a nīnau e pili ana i kāu mau hōʻailona. Hiki i kahi mea hoʻolako ʻike ʻike i nā telangiectases i ka wā o ka hoʻokolokolo kino. Aia pinepine kahi moʻolelo ʻohana o kēia ʻano.

Loaʻa i nā hoʻāʻo:

• Nā hoʻokolohua kinoea koko
• Nā hoʻāʻo koko
• Hōʻike kiʻi o ka puʻuwai i kapa ʻia he echocardiogram
• ʻO Endoscopy, kahi e hoʻohana ai i kahi kāmela liʻiliʻi i hoʻopili ʻia i kahi paipu lahilahi e nānā i loko o kou kino
• MRI e ʻike i nā AVM i ka lolo
• ʻImi ʻia ka CT a me ka ultrasound e ʻike ai i nā AVM i ke akepaʻa

Loaʻa ka hoʻāʻo genetic e nānā no nā loli i nā genes e pili ana i kēia maʻi.

Hiki i nā mālama ke hoʻopili:

• ʻOki kino e mālama i ke kahe ʻana o ke koko i kekahi mau wahi
• Electrocautery (hoʻomehana pumehana me ka uila) a i ʻole ke kahakaha laser e mālama ai i nā nosebleeds pinepine a kaumaha paha
• Hoʻopili endotherapy (e hoʻokomo i kahi mea ma o kahi paipu lahilahi) e mālama ai i nā kīʻaha koko ʻole ma ka lolo a me nā ʻāpana ʻē aʻe o ke kino.

Pane kekahi poʻe i ka estrogen therapy, hiki ke hōʻemi i nā hanana kahe. Hāʻawi ʻia ka hao inā nui ka nui o ke kahe o ke koko, e alakaʻi ana i ka anemia. Hōʻalo i ka lawe ʻana i nā lāʻau lapaʻau hoʻoemi koko. Ke aʻo ʻia nei kekahi mau lāʻau e pili ana i ka hoʻomohala ʻana o ke kīʻaha koko ma ke ʻano he hiki ke mālama ʻia i ka wā e hiki mai ana.

Pono paha kekahi poʻe e lawe i nā lāʻau ʻaloʻalo ma mua o ka hana ʻana o ka niho a me ke ʻoki ʻana. Pono nā poʻe me nā AVM māmā e hōʻalo i ka luʻu scuba e pale ai i ka maʻi decompression (nā lena). E nīnau i kāu mea hāʻawi i nā mālama ʻē aʻe āu e pono ai.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku ma HHT:

• Nā kikowaena no ka kaohi ʻana a me ka Kāohi ʻana i ka maʻi - www.cdc.gov/ncbddd/hht
• Cure HHT - curehht.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/hereditary-hemorrhagic-telangiectasia

Hiki i nā poʻe me kēia maʻi ke ola i ke ola maʻamau āpau, kaukaʻi ʻia ma kahi o ke kino i loaʻa ai nā AVM.

Hiki ke hana i kēia mau pilikia:

• Hewa puʻuwai
• ʻO ke koko kiʻekiʻe i loko o nā māmā (hypertension pulmonary)
• Koko kūloko
• Pokole o ka hanu
• Hahau

Kāhea i kāu mea hāʻawi inā loaʻa ʻoe a i ʻole paha i kāu keiki i ke koko ihu a i ʻole nā ​​hōʻailona ʻē aʻe o kēia maʻi.

Paipai ʻia ka ʻōlelo aʻo genetic no nā kāne e makemake ana e hānau keiki a he moʻolelo ʻohana ko lākou o HHT. Inā loaʻa iā ʻoe kēia ʻano, hiki i nā lāʻau lapaʻau ke pale i kekahi ʻano o nā hahau a me ka puʻuwai ʻole.

HHT; ʻO Osler-Weber-Rendu maʻi; ʻO Osler-Weber-Rendu maʻi; ʻO Rendu-Osler-Weber Syndrome

• ʻŌnaehana puni
• Nā aʻa o ka lolo

Brandt LJ, Aroniadis OC. Nā maʻi kīnā o ka gastrointestinal tract. I: Feldman M, Friedman LS, Brandt LJ, eds. ʻO Sleisenger a me Fordtran's Gastrointestinal a me ka maʻi ate. 10 o ka lā. Piladelapia, PA: Elsevier Saunders; 2016: chap 37.

Cappell MS, Lebwohl O. Hereditary hemorrhagic telangiectasia In: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Ka mālama ʻana i ka maʻi ʻili: nā ʻōnaehana Therapyutic Comprehensive. ʻEhā ed. Piladelapia, PA: Elsevier Saunders; 2014: chap 98.

ʻO McDonald J, Pyeritz RE. Telangectasia hemorrhagic hoʻoiho. I: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Pūnaewele]. Seattle, WA: Kulanui o Wakinekona, Seattle; 1993-2019. Hoʻohou i Pepeluali 2, 2017. Loaʻa iā Mei 6, 2019.