Yu veins dɛn kin brus izi wan? Yu skin rili tan? Lɛ wi no bɔt di denja Vascular Ehlers-Danlos Syndrome (vEDS)!

Sɔntɛnde yu kin gɛt big blu spat na yu bɔdi ivin afta yu dɔn gɛt smɔl bɔmp? Ɔ yu skin kin tan lɛk se yu vein dɛn kin si? Sɔmtɛm dɛn tin ya kin bi sayn fɔ wan sik wae nɔr kin bɔrku bɔt wae kin rili siriɔs, pan ɔl wae sɔmtɛm wi nɔr kin pe atɛnshɔn to dɛn pasmak. Tide wi go tɔk bɔt jɔs dis kayn sik, sik we de mek di kɔnektiv tisu dɛn na di bɔdi wik, mɔ di blɔd vesel dɛn. Dɛn kɔl dis Vascular Ehlers-Danlos Syndrome , ɔ (vEDS) fɔ shɔt tɛm. Pan ɔl we dis kin tan lɛk se i kɔmplikt smɔl, lɛ wi ɔndastand am simpul wan.

Wetin na di sik we dɛn kɔl Ehlers-Danlos Syndrome (EDS)? Yu tink se di vaskul tayp denja?

Fɔ tɔk am simpul wan, Ehlers-Danlos Syndrome (EDS) na wan grup we gɛt sik dɛn we de ambɔg di kɔnektiv tisu dɛn na wi bɔdi. Naw yu kin de wɔnda wetin na di kɔnɛktiv tisu dɛn. Na dɛn tin ya de kɔnɛkt wi bɔdi togɛda ɛn gi dɛn trɛnk. Fɔ ɛgzampul, tin dɛn lɛk di ligamɛnt, di tɛndon, ɛn di katilej. Na dɛn tin ya kin mek wi bɔdi shep, trɛnk, ɛn ebul fɔ chenj.

Na lɛk 13 kayn EDS dɛn de. di vaskulεr EDS (vEDS) we wi de tכk bכt tide na di fכs tכp (`(Type IV)`). Dis na di wan we nɔ bɔku ɛn we siriɔs pas ɔl pan dɛn kayn EDS ya. Pipul dεm we gεt dis kכndyushכn gεt bכku bכku bכku bכdi, dat na di at dεm we de kכri bכdi, εn di כgan dεm we de insay dεm (`(internal organs)`) we rili wik εn i kin izi fכ pwεl. I tan lɛk tin glas, we kin brok wit ivin di smɔl tin.

Udat kin gɛt dis sik? Aw i kɔmɔn?

Bikɔs dis na sik we pɔsin kin gɛt frɔm in jɛnɛtiks , bɔku tɛm na wan mama ɔ papa ɔ ɔl tu in mama ɛn papa kin gɛt am. Dat min se na tin we pɔsin kin gɛt frɔm in mama ɛn papa. Bɔt sɔntɛnde, ivin if nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo, sɔmbɔdi kin gɛt dis sik tru wan chenj we de apin to dis jin bay insɛf.

EDS na sik we nɔ kin apin so ɔltɛm. I kin afɛkt lɛk wan pan ɛvri 5,000 pipul dɛn. Imajin aw dis kayn EDS (vEDS) nɔ kin bɔku. I kin afɛkt lɛk wan pan ɛvri 200,000 ɔ 250,000 pipul dɛn . So i nɔ wɔnda we bɔku pipul dɛn nɔ no bɔt am.

Aw dis kin afɛkt di bɔdi?

Vascular Ehlers-Danlos Syndrome (vEDS) na wan sik we kin mek di bɔdi in tisu dɛn, mɔ di blɔd vesel dɛn (arteries) ɛn di ɔgan dɛn we de insay di bɔdi, nɔ gɛt trɛnk ɛn di elastik . Dis kin mek pipul dɛn brus izi wan ɛn gɛt ay risk fɔ blɔd insay dɛn bɔdi bikɔs ɔf injury.

Tink bɔt am, smɔl bɔmp na di ed nɔto big tin fɔ nɔmal pɔsin. Bɔt fɔ pɔsin we gɛt dis sik, wan blɔd vesel we de insay kin bɔs, ɔ di wɔl kin split (arterial dissection). I tan lɛk wan ol rɔba tiub, we rɛdi fɔ bɔs we yu prɛs am smɔl.

Wetin na di sayn dɛm fɔ Vascular EDS?

Pan ɔl we de sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, sɔm kɔmɔn sayn dɛm de wae yu kin si. Lɛ wi tek wan luk pan wetin dɛn bi:

• Di chenj dɛn we de apin na di skin:
• Di skin kin rili tan, translucent, ɛn dilik , we kin mek di vein dɛn na di bɔdi klia klia wan.
• Di skin na sɔm ples, mɔ na di an ɛn fut, kin tan lɛk se i dɔn ol kwik pas ɔda say dɛn.

• Di difrɛn tin dɛn we pɔsin kin si na in fes:
• Dɛn lip ɛn nos fɔ pipul dɛn we gɛt dis sik kin tan lɛk tin we nɔ kɔmɔn .
• Smɔl chin .
• Di yay dɛn big ɛn dɛn de apat smɔl .
• Sɔm pipul dɛn nɔ kin gɛt bɛtɛ aylash, ɔ dɛn nɔ kin gɛt ɛni wan atɔl .
• Di yes dɛn kin rili smɔl, ɔ i kin lɛf smɔl fɔ lɛ dɛn nɔ de . Dɛn tu yes ya de fa smɔl frɔm di ed ɛn i kin tan lɛk se dɛn kɔmɔt bifo.

• Prɔblɛm dɛn we de na di sεkyulatɔri sistεm:
• Di bɔdi kin brus izi wan . Ivin if smɔl tin bit yu, yu kin gɛt big blu spat dɛn.
• Varicose veins kin apin we yu yɔŋ pas aw i nɔmal.
• hεy bכdi prεshכn (haypa tεnshכn) εn at valv prכblεm (e.g. mitral valv prolaps ) na kכmכn.
• Di risk de fɔ mek pɔsin gɛt injury na di at. Dis inklud tin dɛm lɛk fɔ kɔt di at . Dɛn tin ya kin mek di anɛrizm we denja (we di blɔd vesel in wɔl wik ɛn i kin balɔ) ɔ i kin brok.

• Di wikɛd tin dɛn we di ɔgan dɛn we de insay di bɔdi wik:
• Denja kɔmplikeshɔn kin apin, lɛk we di lɔng we de fɔdɔm (nyumothorax) ɛn we di ɔgan dɛn we de insay di bɔdi kin brok, we kin mek i blɔd pasmak.

• Di chenj dɛn we de apin na di skel:
• Yu kin si wan chɛst we dɔn sink (pectus excavatum).
• Dɛn kin shɔt pas aw dɛn kin shɔt.

Wetin mek dis tin kin apin? Wetin na di rizin?

Wi dɔn tɔk se dis na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. dat min se i de apin biכs f כ wan mכtεshכn (`(jεnεtik mכtεshכn)`) insay wan jin na wi DNA . Tink bɔt am, wi DNA tan lɛk instrɔkshɔn buk we de bil ɛn kɔntrol di bɔdi. Wi sɛl ɛn ɔgan dɛn de wok akɔdin to dis instrɔkshɔn buk. We pɔsin chenj in jɛnɛtiks tan lɛk mistek we dɛn mek na dis instrɔkshɔn buk. Bɔt di bɔdi de fala da kɔrɛkt instrɔkshɔn de ɛni we.

Vascular Ehlers-Danlos Syndrome (vEDS) de kכz fכ wan mכtεshכn insay wan jin we de mek wan protin we dεn kכl kolagen III . nכmal wan, wi bכdi de yuz dis kolagen III fכ mek sכm tisu dεm εn strכkchכ dεm strכng. bכt biכs fכ da jin mכtεshכn de, di bכdi nכ de mek inof kolagen III, כ di kolagen III we dεn mek gεt difεkt. So i nɔ de gi di tisu dɛn di trɛnk we dɛn nid.

Bikɔs na in jɛnɛtiks, pɔsin we gɛt dis sik kin pas am to in pikin dɛn.If wan mama ɔ papa gɛt di sik, 50% chans de fɔ mek di pikin gɛt di sik wit ɛni bɛlɛ. If mama ɛn papa ɔl tu gɛt di sik, di pikin gɛt 100% chans fɔ gɛt di sik.

Yu tink se dis kin pas?

Nɔ, dis nɔto sik we pɔsin kin gɛt to ɔda pɔsin. Dis na sɔntin we pɔsin kin gɛt frɔm di jin dɛn nɔmɔ.

Aw dɛn kin no dis sik?

Dɔktɔ kin saspek Vascular Ehlers-Danlos Syndrome (vEDS) bay yu mɛdikal histri, yu bɔdi ɛgzam, di sayn dɛm, ɛn if ɛnibɔdi na yu famili gɛt dis sik. We dɛn dɔn tɔk bɔt da saspek de, dɛn kin du jenɛtik tɛst fɔ kɔnfirm ɔ fɔ mek dɛn nɔ no se i pɔsibul. biכs tu men jεnεtik mכtεshכn dεm de (dεn dεn no naw) we de mek di kכndyushכn, jεnεtik tεst na di כnli we fכ mek di difinitiv diagnosis.

Us kayn tɛst dɛn kin du?

Bikɔs na sik we nɔ kin apin so ɔltɛm, dɔktɔ dɛn kin du bɔku ɔda tɛst dɛn bifo dɛn tɛst dɛn jɛnɛtiks. Fɔ ɛgzampul, dɛn kin du ɛkokadiogram (we dɛn kin skan di at) ɔ CT skan . Dɛn kin du dɛn tɛst ya fɔs fɔ no ɔda blɔd prɔblɛm dɛn we kin mek pɔsin blɔd pasmak ɔ i kin izi fɔ mek pɔsin brus. Bɔt na di jɛnɛtik tɛst nɔmɔ go ebul fɔ no if yu gɛt Vascular Ehlers-Danlos Syndrome (vEDS).

Wetin na di tritmɛnt dɛn? Yu tink se dɛn kin mɛn am?

Vascular EDS nɔto sik we pɔsin kin mɛn. Na wan sik we pɔsin kin gɛt frɔm in bɔdi, we min se i kin de fɔ ɔl in layf. Bikɔs dɛn nɔ go ebul fɔ mɛn am, dɔktɔ dɛn kin pe atɛnshɔn fɔ kɔntrol di sik dɛn ɛn fɔ mek dɛn nɔ ambɔg am.

Us kayn mɛrɛsin/tritmɛnt dɛn kin yuz?

Pipul wae gɛt vaskul Ehlers-Danlos syndrome kin gɛt mɔ risk fɔ gɛt aneurism (bulging blood vessels) ɛn denja intanɛnt blɔd bikɔs ɔf ruptured blood vessels. So, if yu gɛt dis sik, yu go nid fɔ de du mɛrɛsin ɔltɛm fɔ chɛk fɔ si if yu gɛt anɛrizm. Sɔntɛnde, dɛn kin nid fɔ du ɔpreshɔn fɔ mek di bɔdi gɛt injury ɔ di anɛrizm.

dis kכndyushכn kin mek bak siriכs, ivin layf de pan denja we uman bεlε, lεk we di uterus brok כ bכku bכdi we de kכmכt.

Yu dɔktɔ na di bɛst pɔsin fɔ tɔk to bɔt di mɛrɛsin, tritmɛnt, ɛn ɔpreshɔn we yu go nid. I kin ɛksplen ɔltin bay aw yu sik, yu yon say, ɛn di ditil dɛm bɔt di kia we yu nid.

Ɛni kɔmplikeshɔn de pan di tritmɛnt?

Bikɔs yu tisu dɛn rili wik bikɔs ɔf dis sik, yu kin gɛt bɔku blɔd . Dɔn bak, i kin at fɔ mek pɔsin wɛl afta dɛn dɔn du di ɔpreshɔn, bɔt dis na bikɔs dɛn tisu dɛn de wik. Yu dɔktɔ kin ɛksplen di sayd ɛfɛkt ɛn risk dɛn we yu kin gɛt fayn fayn wan.

Aw a kin tek kia ɔf misɛf/manage de symptoms?

Vascular EDS na wan kɔmpleks kɔndishɔn we nid fɔ mek dɛn de wach am gud gud wan ɛn fɔ go to dɔktɔ dɛn ɔltɛm . I so kɔmpleks dat yu nɔ go ebul fɔ trit ɔ manej am fɔ yusɛf if dɔktɔ nɔ ɛp yu. So, i rili impɔtant fɔ fala wetin yu dɔktɔ tɛl yu fɔ du.

Yu tink se we de fɔ mek dis nɔ apin?

Bikɔs Vascular EDS na wan jenɛtik kɔndishɔn, no we nɔ de fɔ mek i nɔ apin ɔ fɔ ridyus di risk fɔ gɛt am. Pipul wae gɛt dis sik fɔ tɔk to dɛn dɔktɔ bɔt aw dɛn kin gi dɛn jɛnɛtiks if dɛn de plan fɔ gɛt bɛlɛ ɔr bɔn pikin. Dis go ɛp dɛn fɔ ɔndastand wetin fɔ ɛkspɛkt if dɛn pikin gɛt dis sik.

Wetin a go ɛkspɛkt if a gɛt dis sik? Wetin na di tin dɛn we wi go si?

Pipul wae gɛt Vascular EDS kin gɛt mɔr risk fɔ gɛt kɔmplikeshɔn ɛn prɔblɛm wae gɛt fɔ du wit blɔd ɔ wik intanɛnt tisu ɛn ɔgan dɛm.

Bɔrku pipul dɛm wae gɛt dis sik go gɛt at le wan siriɔs kɔmplikeshɔn wae dɛn rich 20. We dɛn ol 40 ia , di risk fɔ gɛt prɔblɛm wae de mek dɛn layf de pan denja na lɛk 80% . Statistikin sho se lɛk af pan pipul dɛm wae gɛt dis sik kin liv fɔ 48 ia .

Bɔt nɔ fred fɔ yɛri dis. Bikɔs we di sayɛns bɔt mɛrɛsin de go bifo, nyu we dɛn de kam fɔ mɛn dɛn sik ya, ɛn pipul dɛn dɔn ebul fɔ liv bɛtɛ layf pas aw dɛn bin de liv bifo.

Aw lɔng dis tin go las?

Vascular EDS na wan kכndyushכn we de de frכm we dεn bכn am εn de las כl di layf.

Aw a fɔ kia fɔ misɛf?

Pipul dɛn we gɛt Vascular EDS fɔ go to dɔktɔ ɔltɛm fɔ wach dɛn kɔndishɔn ɛn chɛk fɔ ɛni nyu prɔblɛm.

Ɛn bak, .

• Yu fɔ avɔyd gem ɔ tin dɛn we denja .
• Yu fɔ avɔyd fɔ es wet ɔ ɔda tin dɛn we go mek yu wund bad bad wan.
• I fayn bak fɔ avɔyd ɛlektiv ɔpreshɔn bikɔs di risk fɔ mek yu blɔd bɔku ɛn fɔ gɛt injury insay yu bɔdi.

Ustɛm a fɔ go to dɔktɔ? / Ustɛm a fɔ go fɛn imejensi tritmɛnt?

Si yu dɔktɔ ɔltɛm lɛk aw dɛn tɛl yu fɔ du. I go tɛl yu bak ustɛm yu fɔ kɔl ɔ si yu dɔktɔ, ɛn us sayn dɛn yu fɔ no bɔt.

If ɛnitin apin we nɔ izi fɔ du, dat min se:

• If yu gɛt dis sik, yu fɔ go to dɔktɔ wantɛm wantɛm if yu fil bad bad wan fɔ no rizin, mɔ na yu chɛst ɔ yu bɛlɛ .
• Dɔn bak, if yu gɛt wund we de na do we de blɔd bad bad wan ɔ we de kɔmɔt , go to dɔktɔ wantɛm wantɛm.

Faynal Mɛsej fɔ Tek-Hom

Na tru se Vascular Ehlers-Danlos Syndrome (vEDS) na wan sik we kɔmpleks, we gɛt jɛnɛtiks. I nid fɔ mek di dɔktɔ dɛn de wach am gud gud wan ɛn kia fɔ am. Dis kin tan lɛk se yu de fred, bɔt mɛmba se bikɔs ɔf di tin dɛn we dɛn dɔn du pan mɛrɛsin ɛn ɔndastandin bɔt dis sik, pipul dɛn we gɛt dis sik kin liv lɔng ɛn bɛtɛ layf naw pas di ia dɛn we dɔn pas. So, i impɔtant fɔ fala yu dɔktɔ in advays ɛn tek kia ɔf yu wɛlbɔdi. If yu ɔr pɔrsin wae yu sabi gɛt ɛni kwɛstyɔn bɔt dis, nɔr shem fɔ tɔk to dɔktɔ.

` vaskulεr ehlers-danlos sεndrכm, veds, ehlers-danlos sεndrכm, eds, jεnεtik dizכrd, kכnektiv tisu, fraylayz atεri dεm, izi brus, skin sik dεm, jεnεtik sik dεm, bכdi vεsul dεm