Yu kin gɛt blɔd na yu nos ɔltɛm bak? I kin bi HHT (Hɛritɛy Ɛmorajik Telangiɛktasia)!

Bɔku tɛm yu kin gɛt blɔd na yu nos? Ɔ yu dɔn notis smɔl smɔl rɛd spat dɛn na sɔm pat dɛn na yu bɔdi, fɔ ɛgzampul, na yu fes, yu lip, ɔ yu finga dɛn? Sɔntɛnde wi nɔr kin tink bɔt dɛn tin ya as nɔmal tin, bɔt biɛn dɛn kin gɛt wan mɛrɛsin we nid sɔm atɛnshɔn. Na dat HHT bi, bɔt nɔto bɔku pipul dɛn no bɔt am. Tide wi de tɔk bɔt dis HHT, ɔ insay mɛrɛsin, `(Hereditary Hemorrhagic Telangiectasia)`, we na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa. Sɔm pipul dɛn kin kɔl am bak `(Osler-Weber-Rendu syndrome)`.

Wetin na HHT rili?

Fɔ tɔk am simpul wan, HHT na wan sik we pɔsin kin gɛt we i de afɛkt di blɔd vesel dɛn na wi bɔdi. Yu no, wi gɛt dɛn smɔl smɔl tiub ya we de kɛr blɔd ɔlsay na wi bɔdi, we wi kɔl blɔd vesel. pan dis kכndishכn, wetin kin apin na dat dεn bכdi vεsul dεm ya, spεshal wan dεm we dεn kכl kapilari dεm, nכ de divεlכp fayn fayn wan. wi kכl dεn kapilari dεm ya we nכ fכm ``telangiectasias''.

Tink bɔt dis, wi gɛt big big at dɛn we de kɛr blɔd kɔmɔt na wi at to di ɔda pat dɛn na wi bɔdi, ɛn vein dɛn we de kɛr da blɔd de go bak na di at. di kכnεkshכn bitwin dεn tu ya de mek bay wetin dεn kכl kapilari dεm. insay HHT, sכmtεm dεn at εn vein dεm kin gεt abnכmal kכnεkshכn dεm dεn wan dεm, we dεn nכ de go tru di kapilari dεm. wi kin kכl dεn arteriovenous malformations, כ AVM fכ sכt.

Dɛn abnɔmal blɔd vesel ya kin rili wik ɛn dɛn kin brok. Dɛn kin bɔs ɔ brok izi wan, we kin mek yu blɔd (blɔd kɔmɔt). Di simptom ɛn kɔmplikeshɔn dɛn de dipen pan usay di blɔd de kɔmɔt.

Udat kin gɛt HHT?

Dis sik we dɛn kɔl HHT kin afɛkt uman, man, ɛn ivin yɔŋ pikin dɛn . Ras, rilijɔn, ɛn kɔlɔ nɔ gɛt natin fɔ du wit dis. Mainly bikos e de pas dכn frכm jεnereshכn to jεnereshכn tru jin, if pכsin na di famili gεt am, כda pipul dεm gεt chans fכ divεlכp am tu.

Dɛn kin tek dis as tin we nɔ kin apin so ɔltɛm . Bɔt bɔku tɛm, dɛn nɔ kin no se i gɛt am. Dis min se, pan ɔl we dɛn se na lɛk wan pan ɛvri 5,000 pipul dɛn na di wɔl gɛt dis sik, bɔku pan dɛn nɔ no se dɛn gɛt dis sik.

Wetin kin mek pɔsin gɛt HHT?

As a bin dɔn tɔk, HHT na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks . Dis min se na mama ɛn papa kin gɛt am to pikin dɛn. Dɛn kin tek am se na ``dominant disorder``. Fɔ tɔk am simpul wan, pikin kin gɛt dis sik ilɛksɛf na wan mama ɔ papa nɔmɔ, we na di mama ɔ di papa, gɛt di jin we nɔ fayn .

Sayɛnsman dɛn dɔn no bɔku bɔku difrɛn chenj dɛn we de apin na siks jin dɛn we gɛt fɔ du wit HHT. כltu, naw, di mכst kכmכn mכtεshכn dεm de insay tu jin dεm we dεn kכl ENG εn ACVRL1. Sayɛnsman dɛn stil de du risach bɔt dis.

Wetin na di sayn dɛm fɔ HHT?

Di sayn dɛm fɔ HHT kin difrɛn bad bad wan frɔm wan pɔrsin to ɔda pɔrsin. I dipen pan usay na di bɔdi di abnɔmal blɔd vesel dɛn we a bin tɔk bɔt de. Sɔm pipul dɛn nɔ kin gɛt ɛni big big sayn. Bɔt ɔda pipul dɛn kin gɛt siriɔs sik dɛn we rili bad.

Bɔt di tin we kin apin to pipul dɛn we gɛt HHT na we dɛn kin gɛt blɔd na dɛn nos ɔltɛm (epistaxis) . Sɔm pipul dɛn kin gɛt blɔd na dɛn nos bɔku tɛm insay di de. Dis prɔblɛm kin dɔn de frɔm we i smɔl.

Apat frɔm dat, sɔm pipul dɛn we gɛt HHT kin notis smɔl smɔl rɛd spat (telangiectasias) na dɛn bɔdi. Dɛn tin ya kin tan lɛk se dɛn kɔlɔ dɔn chenj smɔl to yu. Dɛn kin si dɛn tin ya mɔ pan:

• Na di fes
• Insay di finga dɛn ɔ di finga dɛn
• Na di an dɛn
• insay di mכt (na di mכkus mεmbran) .
• Na di lip dɛn
• Arawnd di nos

Apat frɔm dɛn tin ya, sɔm pipul dɛn we gɛt HHT kin gɛt bak:

• Anemia : Dis min se di rεd bכdi sεl dεm nכ de na di bכdi. Dis kin apin bikɔs ɔf di blɔd we de kɔmɔt ɔltɛm.
• Blɔd we de kɔmɔt na di bɛlɛ ɔ di insay : Dis kin bi se yu nɔ go si am, bɔt blɔd kin de na di stɔl ɔ di stɔl kin blak.

Arteriovenous Malformations (AVM) ɛn dɛn ifɛkt dɛn

Sɔmtɛm pipul dɛm wae gɛt HHT kin gɛt aneurism (AVM) na big blɔd vesel dɛm. dis AVM dεm kin mεntal divεlכp insay כgan dεm lεk di lכng, bren, spεnal kכd, εn liva. Dɔn dɛn kin mek difrɛn sayn dɛn we gɛt fɔ du wit ɛni ɔgan.

• If yu gɛt AVM dɛn na yu lɔng dɛn:
• Bluish diskɔlɔreshɔn na di skin (espɛshali di lip, finga nel) .
• We yu de kɔf blɔd (ɛmoptaysis) .
• Fɔ fil taya kwik kwik wan
• I nɔ izi fɔ blo (dyspnea) .
• If yu gɛt `(AVM)` na yu bren: Dɛn wan ya we denja smɔl. Bikɔs if wan pan dɛn `(AVM)` ya bɔs insay di bren, i rili siriɔs.
• Diziz we pɔsin kin gɛt
• Dabl vishɔn
• Di sik dɛn we kin mek pɔsin sik
• Kɔndishɔn dɛn we tan lɛk strok kin apin.
• If yu gɛt liva AVM dɛn:
• di hat kin go insay wan stet we ``Hat fεil'' biכs we bכdi de rכsh tru di ``(AVM)'' na di liva, di at gεt fכ wok tranga wan fכ gi bכdi to di כl bכdi.
• If yu gɛt spɛshal AVM dɛn:
• Bak pen
• Di an ɔ fut kin swɛla ɔ nɔ kin fil fayn.

Impɔtant: If dɛn ``(AVM)`` ya brok ɛn blɔd, na rili siriɔs imejensi. So, if yu gɛt ɛni wan pan di sik dɛn we wi dɔn tɔk bɔt, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm.

Mi pikin dɛnsɛf kin gɛt HHT?

Yes, if yu gɛt HHT, ɛni wan pan yu pikin dɛn gɛt 50% chans fɔ gɛt di sik.Yɛs. Dat min se ɛvri tɛm we dɛn bɔn pikin, 50% chans de fɔ mek di pikin gɛt HHT ɛn 50% chans de fɔ mek i nɔ gɛt am. I tan lɛk se yu de flip kɔyn ɛn gɛt ed ɔ tel.

Aw dɛn kin no se pɔsin gɛt HHT?

Dɛn kin du jɛnɛtik tɛst fɔ kɔnfɔm HHT. Bɔt bɔku tɛm, dɔktɔ dɛn kin no bɔt am bay we dɛn de fala di klinik infɔmeshɔn, lɛk di sayn dɛn we i gɛt ɛn di famili histri. We yu go to dɔktɔ, bɔku tɛm dɛn go du dɛn tin ya:

• Dɛn go aks yu ditayla kwɛstyɔn bɔt yu pasɔnal mɛdikal histri (e.g. aw lɔng yu dɔn gɛt blɔd na yu nos, aw ɔltɛm, ɛn us ɔda prɔblɛm yu dɔn gɛt).
• Aks bɔt di mɛdikal histri fɔ yu fambul dɛm we de nia yu (mama ɛn papa, brɔda ɛn sista, pikin dɛm) bikɔs dis kin rɔn na famili.
• Dɛn go chɛk yu bɔdi (fɔ si if ɛni rɛd spat de ɔ dɛn kayn tin ya).
• if nid de, rifer fכ tεst dεm (e.g. `(scan)` tכp dεm, `(Endoscopy)`) fכ chεk di kכndishכn fכ di intanεt כgan dεm .

Dɔktɔ kin sɔprayz ɔ disayd se yu gɛt HHT if yu gɛt at le tri pan dɛn sayn ya:

• Blɔd we de kɔmɔt na yu nos ɔltɛm.
• di prεsεns fכ sεvεra telangiectasias na di εria dεm we dεn kin si dεm na di skin (lεk di fes, lip, finga dεm).
• di prεsεns fכ ``telangiectasias'' כ ``AVM'' insay intanεt כgan dεm (e.g. lכng, bren, bεlε, intestines) (dεn kin כnli fכn dεn tin ya tru tεst).
• Fɔ gɛt tayt famili mɛmba wit HHT.

Wetin na di tritmɛnt dɛm fɔ HHT?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ HHT. Bɔt sɔm tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik, fɔ ridyus di sik, ɛn fɔ ridyus di risk fɔ gɛt siriɔs prɔblɛm. Sayɛnsman dɛn stil de wok fɔ fɛn tritmɛnt fɔ HHT, mɔ wit di divɛlɔpmɛnt fɔ anti-angiogenic mɛdikal tritmɛnt.

We yu dɔktɔ de trit di sik dɛn we dɔn de, i go chɛk bak fɔ ɛni prɔblɛm we gɛt fɔ du wit HHT we nɔ gɛt di sayn dɛn yet.

Di tritmɛnt kin inklud dɛn tin ya:

• Laser tritmɛnt (`(Ablation)`): Na smɔl ɔpreshɔn we dɛn kin yuz laser bim fɔ stɔp di say dɛn we blɔd de kɔmɔt (telangiectasias) we kin mek blɔd kɔmɔt.
• Embolization: Na smɔl ɔpreshɔn we de blok blɔd vesel we de go na say we blɔd de kɔmɔt ɔ AVM we de pan denja fɔ blɔd.
• Tritmɛnt fɔ blɔd we nɔ gɛt bɛtɛ blɔd: Dɛn kin gi dɛn ayɔn tablɛt, ɛn gi dɛn blɔd (blɔd transfyushɔn) if nid de.
• Fɔ kɔntrol di blɔd we de kɔmɔt na yu nos: Yuz tin dɛn lɛk ɔntmɛnt ɛn salin sprɛy fɔ mek di insay pat na di nos wet.
• Fɔ pul AVM dɛn: Dɛn kin pul sɔm AVM dɛn wit redyushɔn tɛrapi ɔ ɔpreshɔn.
• Anti-angiogenic medical therapies: Dɛn kin gi dɛn tin ya as infushɔn ɔ as pils.

Yu kin go bak to spɛshal pipul dɛn fɔ trit sɔm patikyula bɔdi sistɛm dɛn lɛk di liva, lɔng, bɛlɛ, ɛn bren.

Yu tink se dɛn kin mek dɛn nɔ gɛt HHT?

Bikɔs na sik we pɔsin kin gɛt frɔm yu jɛnɛtiks, no we nɔ de fɔ mek yu nɔ gɛt HHT ɔ fɔ mek yu nɔ gɛt am. Bɔt if yu mama ɛn papa, brɔda ɛn sista, ɔ pikin dɛn gɛt HHT, i impɔtant fɔ tɛl yu dɔktɔ. Dis kin ɛp yu fɔ no if yu gɛt dis sik kwik kwik wan, bigin tritmɛnt kwik, ɛn nɔr gɛt prɔblɛm.

Wetin na de luk fɔ pipul dɛm wae gɛt HHT?

Pipul wae gɛt HHT kin liv lɛk nɔrmal layfspan. Bɔt di AVM ɛn di blɔd we de kɔmɔt ɔltɛm na di lɔng ɛn bren na siriɔs tin ɛn i nid fɔ gɛt tritmɛnt. If dɛn de manej dɛn fayn fayn wan, bɔku pipul dɛn kin liv nɔmal layf.

Wetin fɔ du fɔ nos blɔd bikɔs ɔf HHT?

Nɔs blɔd kin rili bɔku pan HHT, so sɔm tin dɛn de we yu kin du fɔ ɛp fɔ mek yu nɔ gɛt am:

• Nɔ yuz sɔm mɛrɛsin dɛn, mɔ di mɛrɛsin dɛn we de mek pɔsin fil pen lɛk aspirin ɛn NSAID (e.g. ibuprofen, diclofenac). Dɛn tin ya kin mek di blɔd nɔ klɔt ɛn i kin mek di blɔd bɔku. Aks yu dɔktɔ bifo yu tek ɛni mɛrɛsin.
• Kip wan dayari. Rayt us it dɛn yu de it ɛn us tin dɛn yu de du we de mek yu nos blɔd. Dɔn yu kin avɔyd dɛn tin dɛn de.
• Kip di insay pat na yu nos wet ɛn gɛt lɔbrik. Yu kin du dis bay we yu yuz humidifier, put ɔntmɛnt dɛn we yu dɔktɔ tɛl yu fɔ du, ɔ yuz saline nasal spray. If yu nos dray, i kin mek yu blɔd kɔmɔt.

Wetin ɔda tin a kin aks mi dɔktɔ bɔt HHT?

If dɛn no se yu gɛt HHT, i fayn fɔ aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Yu tink se dɛn fɔ tɛst di ɔda pipul dɛn na mi famili fɔ si dis?
• A kin ebul fɔ ple spɔt? Us kayn spɔt dɛn fayn ɛn wetin nɔ fayn?
• Ɛni patikyula tin dɛn de we a fɔ avɔyd?
• Ɛni rɔm, spɛshal it dɛn, ɔ ɔda mɛrɛsin dɛn de we a fɔ avɔyd?
• Wetin a kin du fɔ mek a nɔ gɛt blɔd na mi nos ɔ fɔ stɔp am kwik kwik wan?
• I sef fɔ mek a gɛt bɛlɛ? Ɛni spɛshal tin dɛn de we a nid fɔ no bɔt?
• If a gɛt blɔd, ustɛm a fɔ go to dɔktɔ wantɛm wantɛm?

Fɔ dɔn, wetin fɔ mɛmba

HHT na wan jenɛtik kɔndishɔn we bɔku tɛm dɛn nɔ kin no bɔt am. Di sayn dɛm kin kɔmɔt frɔm we yu nos kin blɔd bɔku tɛm to siriɔs prɔblɛm dɛm we kin afɛkt bɔku bɔku bɔdi sistɛm dɛm. If yu sɔspɛkt se yu ɔ sɔmbɔdi na yu famili gɛt HHT, duya tɔk to dɔktɔ.If yu trit yu kwik kwik wan, dat kin ɛp fɔ mek yu nɔ gɛt prɔblɛm dɛn. We dɛn de tɛst dɛn jɛnɛtiks, dat kin ɛp bak fɔ no if ɔda pipul dɛn na di famili gɛt dis sik. Fɔ no mɔ na di tin we impɔtant pas ɔl pan dis kayn tin.

` HHT, Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu sindrom, nos blɔd, blɔd vesel, jɛnɛtik sik, AVM, telangiectasia