I-telangiectasia eyopha ifa

I-hereditary hemorrhagic telangiectasia (HHT) yisifo esizuzwe njengefa semithambo yegazi engadala ukopha ngokweqile.

I-HHT idluliselwa emindenini ngephethini ephezulu ye-autosomal. Lokhu kusho ukuthi isakhi sofuzo esingajwayelekile sidingeka kumzali oyedwa kuphela ukuze kuzuze lesi sifo njengefa.

Ososayensi bathole izakhi zofuzo ezine ezihilelekile kulesi simo. Zonke lezi zofuzo zibukeka zibalulekile ukuze imithambo yegazi ikhule kahle. Ukuguqulwa kokunye kwalokhu kufakwa kubhekele i-HHT.

Abantu abane-HHT bangakha imithambo yegazi engajwayelekile ezindaweni eziningi zomzimba. Le mikhumbi ibizwa ngama-arteriovenous malformations (AVMs).

Uma zisesikhumbeni, zibizwa ngokuthi ama-telangiectasias. Izindawo ezivame kakhulu zifaka izindebe, ulimi, izindlebe, neminwe. Imithambo yegazi engajwayelekile nayo ingakhula ebuchosheni, emaphashini, esibindini, emathunjini, noma kwezinye izindawo.

Izimpawu zalesi sifo zifaka:

• Ukuphuma kaningi emakhaleni ezinganeni
• Ukopha emgodini wamathumbu (GI), kufaka phakathi ukulahleka kwegazi esitokisini, noma indle emnyama noma emnyama
• Ukuquleka noma okungaqondakali, imivimbo emincane (kusuka ekopheni kuya ebuchosheni)
• Ukuphelelwa umoya
• Isibindi esandisiwe
• Ukwehluleka kwenhliziyo
• Ukushoda kwegazi okubangelwa insimbi ephansi

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba abuze ngezimpawu zakho. Umhlinzeki onolwazi angathola ama-telangiectases ngesikhathi sokuhlolwa komzimba. Imvamisa kunomlando womndeni walesi simo.

Izivivinyo zifaka:

• Ukuhlolwa kwegesi yegazi
• Ukuhlolwa kwegazi
• Ukulingisa ukuhlolwa kwenhliziyo okubizwa nge-echocardiogram
• I-Endoscopy, esebenzisa ikhamera encane enamathiselwe kushubhu elincanyana ukubheka ngaphakathi komzimba wakho
• I-MRI ukuthola ama-AVM ebuchosheni
• I-CT noma i-ultrasound scan ukuthola ama-AVM esibindi

Ukuhlolwa kofuzo kuyatholakala ukubheka ushintsho kuzakhi zofuzo ezihambisana nalesi sifo.

Ukwelashwa kungafaka:

• Ukuhlinzwa ukwelapha ukopha kwezinye izindawo
• I-Electrocautery (ukushisa izicubu ngogesi) noma ukuhlinzwa nge-laser ukwelapha ukopha kaningi noma okusindayo
• I-Endovascular embolization (ukujova into ngoshubhu omncane) ukwelapha imithambo yegazi engajwayelekile ebuchosheni nakwezinye izingxenye zomzimba

Abanye abantu baphendula ekwelashweni kwe-estrogen, okunganciphisa iziqephu zokopha. Insimbi inganikezwa futhi uma kukhona ukulahleka kwegazi okuningi, okuholela ekushoneni kwegazi. Gwema ukuthatha imithi enciphisa igazi. Eminye imishanguzo ethinta ukukhula kwemithambo yegazi iyafundwa njengezindlela zokwelashwa ezizayo.

Abanye abantu bangadinga ukuthatha ama-antibiotic ngaphambi kokuthola umsebenzi wamazinyo noma ukuhlinzwa. Abantu abane-AVM yamaphaphu kufanele bagweme ukushushuluza nge-scuba ukuvikela ukugula kwe-decompression (ama-bend). Buza umhlinzeki wakho ukuthi yiziphi ezinye izinyathelo okufanele uzithathe.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-HHT:

• Izikhungo Zokulawulwa Nokuvikelwa Kwezifo - www.cdc.gov/ncbddd/hht
• Lapha i-HHT - curehht.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/redited-hemorrhagic-telangiectasia

Abantu abanalesi sifo bangaphila impilo ejwayelekile ngokuphelele, kuya ngokuthi umzimba utholakalaphi kuma-AVM.

Lezi zinkinga zingenzeka:

• Ukwehluleka kwenhliziyo
• Umfutho wegazi ophezulu emaphashini (umfutho wegazi ophakeme wamaphaphu)
• Ukopha ngaphakathi
• Ukuphelelwa umoya
• Unhlangothi

Shayela umhlinzeki wakho uma wena noma ingane yakho uphuma igazi kaningi emakhaleni noma ezinye izimpawu zalesi sifo.

Ukwelulekwa ngofuzo kunconyelwe imibhangqwana efuna ukuba nezingane futhi enomlando womndeni we-HHT. Uma unalesi simo, ukwelashwa kungavimbela izinhlobo ezithile zohlangothi nokuhluleka kwenhliziyo.

HHT; I-Osler-Weber-Rendu syndrome; Isifo sika-Osler-Weber-Rendu; Isifo sikaRendu-Osler-Weber

• Uhlelo lokujikeleza kwegazi
• Imithambo yegazi yobuchopho

UBrandt LJ, Aroniadis OC. Ukuphazamiseka kwemithambo yegazi emathunjini. Ku: Feldman M, Friedman LS, Brandt LJ, ama-eds. Sleisenger kanye neFordtran's Gastrointestinal and Liver Disease. Umhlaka 10. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 37.

UCappell MS, uLebwohl O. I-telangiectasia ene-hemorrhagic hemorrhagic Ku: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Ukwelashwa Kwezifo Zesikhumba: Amasu Wokwelashwa Okuphelele. Umhla wesi-4. IPhiladelphia, PA: Elsevier Saunders; 2014: isahluko 98.

UMcDonald J, uPyeritz RE. I-telangiectasia eyopha ifa. Ku: Adam MP, Ardinger HH, Pagon RA, et al, ama-eds. I-GeneReviews [i-Intanethi]. Seattle, WA: University of Washington, Seattle; 1993-2019. Kubuyekezwe uFebhuwari 2, 2017. Kufinyelelwe ngoMeyi 6, 2019.