Marfan Syndrome ɛn Yu At: Lɛ Wi Tɔk Bɔt Dis!

Yu go mɔs dɔn si pipul dɛn we lɔng pasmak, we gɛt lɔng an ɛn fut, ɛn we tan lɛk tin pas ɔda pipul dɛn. Ɔlman gɛt dis sik, bɔt nɔto sik. Bɔt sɔntɛnde, dis kayn bɔdi shep kin bi sayn fɔ wan sik we dɛn kɔl Marfan Syndrome . dis na kכndyushכn we de apin we di kכnektiv tisu na wi bכdi nכ de divεlכp fayn fayn wan. Fɔ tɔk am simpul wan, dis kɔnɛktiv tisu na in de ol di difrɛn pat dɛn na wi bɔdi togɛda ɛn gi dɛn trɛnk. We dɛn tin ya wik, bɔku pat dɛn na di bɔdi kin afɛkt, mɔ di at, di yay, di blɔd vesel dɛn, ɛn di skel sistɛm . Tide, wi go tɔk bɔt aw dis sik we dɛn kɔl Marfan Syndrome kin afɛkt di at.

Aw di sik we dɛn kɔl Marfan Syndrome kin afɛkt di at?

We yu gɛt Marfan syndrome, tu men pat na yu at kin afɛkt mɔ.

1. Aorta: Dis na di men, big blɔd vesel we de kɛr blɔd we gɛt ɔksijɛn frɔm wi at to di wan ol bɔdi. I tan lɛk di men paip we de kɛr wata kɔmɔt na wata tank go na yu os.

. Dɛn kin mek shɔ se blɔd de flɔ na wan say nɔmɔ.

Naw lɛ wi luk ɛni wan pan dɛn wan ya fɔ si wetin kin apin.

Wetin kin apin to di aorta?

Marfan syndrome de mek di kכnektiv tisu na di wכl dεm na di at wik. Lɛk ol rɔba tiub, i nɔ de gɛt trɛnk ɛn i nɔ de ebul fɔ elastik igen. Dis kin mek yu gɛt tu men prɔblɛm dɛn:

• di aorta dilayshכn: sכmtεm di aorta de bigin fכ big εn big.
• Aortic aneurysm: Na sɔm say dɛn, di at in wɔl kin wik ɛn i kin bɔl kɔmɔt na do lɛk balyɔn.

Imajin, dis anɛrizm tan lɛk baysikul taya we de bɔl kɔmɔt na wan say we di tiub wik.

spεshal wan, di pat pan di at we de nia di at, we dεn kכl di `aortic root`, na di pat we kin big כ big dis we pan pipul dεm we gεt Marfan sεndrכm. dis na kכndishכn we rili denja, biכs if dis `aneurysm` gro big εn bכst (`aortic dissection` כ rupture), i kin mek yu layf de pan denja.

Ɔda tin dɛm lɛk Ehlers-Danlos syndrome, Loeys-Dietz syndrome, bicuspid aortic valve, ɛn Turner syndrome kin mek bak di at big, bɔt dɛn kin apin na ɔda pat dɛm na di at.

Wetin kin apin to di at valv dɛm?

Marfan syndrome kin kam bak wit prɔblɛm wit di at valv dɛm. if dεn valv dεm ya nכ de wok fayn, di at fכ wok tranga wan fכ pכmp bכdi. As tɛm de go, dis kin mek yu at pwɛl.I kin go ɛni we. Dɛn kin si tu men valv sik dɛn we gɛt fɔ du wit Marfan sindrom:

• di aorta valv rigεshכn: we di valv bitwin di aorta εn di lכw lεft chεmba na di at (di lεft vεntrikl) nכ kכloz fayn, sכm pan di bכdi we dεn pכmp de lik bak insay di at. I tan lɛk pɔt we de lik.
• di mitral valv prolaps: di mitral valv, we de bitwin di כp chεmba (lεft atrium) εn di lכw chεmba (lεft vεntrikl) na di lεft say na di at, nכ de kכloz fayn, εn di כp chεmba de kכmכt na do. dis kin mek sכmtεm blכd lik bak (mitral regurgitation).

Aw kɔmɔn at sik na pipul dɛm wae gɛt Marfan syndrome?

Infakt, pipul dɛm wae gɛt Marfan syndrome kin gɛt bɔrku prɔblɛm wit dɛn at. Risach dɔn sho se nayn pan tɛn pipul dɛm wae gɛt Marfan syndrome go gɛt sɔm kayn prɔblɛm wit dɛn at valv ɔr aorta. Na dat mek i impɔtant fɔ no bɔt dis.

Wetin na di sayn dɛm fɔ Marfan syndrome wae de afɛkt di at?

If yu gɛt Marfan syndrome, lɛk aortic aneurysm ɔ valv sik, yu kin gɛt sɔm sayn dɛn. Bɔt sɔm pipul dɛn kin gɛt dɛn kayn sik ya we nɔr kin gɛt ɛni sayn. Na dat mek i impɔtant fɔ du mɛdikal tɛst.

Dis na di sayn dɛm wae yu kin si in jɛnɛral:

• Chɛst pen ɔ ɔpa bak pen
• Fɔ kɔf blɔd (dis na sayn we denja smɔl) .
• I nɔ izi fɔ swɛla it (if di at we dɔn big de prɛs pan di εsophagus ) .
• Fɔ fil se yu diziz ɔ yu ed yu nɔ gɛt bɛtɛ trɛnk
• Fɔ fil se yu taya pasmak ɔ yu wik
• Fɔ fil se yu at nɔ de rit (at yu at de bit) .
• di vɔys we de ala (if di at prɛs pan wan nεv we kכnekt to di vokal kכd dεm) .
• I nɔ izi fɔ yu fɔ blo , mɔ we yu taya ɔ ledɔm
• Swel , mɔ na di leg ɛn anklɛ
• Wiz (wistling) we yu de blo

Imajin se yu gɛt yu padi we rili lɔng ɛn we tan lɛk tin. I se bɔku tɛm i kin gɛt pen na in chɛst ɛn i nɔ kin izi fɔ am fɔ waka. If na so, i go fayn fɔ mek yu go to dɔktɔ fɔ si if i gɛt fɔ du wit di sik we dɛn kɔl Marfan syndrome.

Wetin kin mek di sik we dɛn kɔl Marfan syndrome kin afɛkt di at?

As wi bin dɔn tɔk bifo tɛm, Marfan syndrome na wan kɔnektiv tisu disɔda.I nɔ fɔm fayn fayn wan. di kכnektiv tisu we gεt hεlty de fכn כlsay na wi bכdi. I de gi trɛnk, shep, ɛn fleksibul to ɔgan ɛn blɔd vesel dɛn. dis kכnektiv tisu de na di wכl dεm na di at εn di bכdi vεsul dεm, spεshal wan di aorta, εn na di at valv dεm.

we dεn kכnektiv tisu dεm ya wik bikoz fכ di Marfan sεndrכm, dεn de lכs dεn trεnk εn elastik. Dis kin mek di at big ɛn swel, ɛn i nɔ kin ebul fɔ bia di prɛshɔn we di blɔd de gi am. Dis kin mek bak di at valv dɛn kin sik ɛn nɔ kin ebul fɔ opin ɔ lɔk fayn fayn wan.

Us at tɛst dɛn kin ɛp fɔ no if yu gɛt Marfan syndrome?

Sɔntɛnde, i nɔ kin izi fɔ no bɔt di sik we dɛn kɔl Marfan syndrome bikɔs di sik kin difrɛn frɔm wan pɔsin to ɔda pɔsin ɛn i kin tan lɛk ɔda sik dɛn. Bɔrku pipul dɛn kin jɔs diskɔba se dɛn gɛt am we dɛn yɔŋ ɔr big.

If dɔktɔ tink se yu gɛt Marfan syndrome, dɛn go du tin dɛn lɛk:

• Dɛn go du wan kɔmplit ɛgzam fɔ di bɔdi . Dɛn go chɛk yu ayt, yu wet, yu an ɛn yu leg lɔng, yu chɛst shep, yu yay, ɛn yu skin tɔyn.
• Dɛn go aks bɔt yu famili mɛdikal istri . Dɛn go chɛk fɔ si if ɛnibɔdi na yu famili dɔn gɛt Marfan syndrome ɔr ɔda kayn sik.
• sεvεra spεshal skan dεm (`imaging tests`) we de egzamin di at dεn כda. Di men wan dɛn na:
• Echocardiogram (Echo): Dis kin mek yu si klia wan di saiz, shep, ɛn di wok we di at ɛn di blɔd vesel dɛn de du, jɔs lɛk aw dɛn kin du ɔltra saund skan na di at.
• Ilɛktrokardiogram (EKG): Dis de mɛzhɔ di ilɛktrik wok we di at de du, dat na di ritm we di at de bit.
• Jεnεtik tεst: dεn kin du dis tεst fכ kכnfכm if yu gεt jεnεtik mכtεshכn (insay di FBN1 jin) we de mek Marfan sεndrכm.

Wetin na di tritmɛnt dɛm fɔ mɛn di at prɔblɛm dɛm wae kin kam wit Marfan syndrome?

Pan ɔl we dɛn nɔ kin ebul fɔ mɛn di sik we dɛn kɔl Marfan syndrome ɔltogɛda, tritmɛnt dɛn de fɔ kɔntrol di tin dɛn we kin apin to di at ɛn fɔ mek i nɔ gɛt siriɔs prɔblɛm dɛn. Dɛn tin ya kin gɛt tu kayn: tritmɛnt dɛn we nɔto ɔspitul ɛn tritmɛnt we dɛn kin du ɔspitul.

Dɔktɔ kin tɛl yu fɔ du ɔpreshɔn pan dɛn kayn tin ya:

• If di dayamita fɔ yu at vessel (aorta) na 5 sɛntimita (lɛk 1.97 inch) ɔ pas dat.
• if di hat rεt inkrεs bay 0.5 sεntimita (bכt 0.197 inch) כ mכr insay wan ia (dεn kכl dis `rapid expansion`).
• If yu blɔd fambul dɛn (bayolojikal famili mɛmba dɛn) dɔn du dis kayn ɔpreshɔn (sɔntɛm bikɔs ɔf di jɛnɛtik inflɔwɛns, dɛn kin nid fɔ du ɔpreshɔn ivin pan smɔl dayamita).

Pipul dɛn we gɛt smɔl bɔdi kin gɛt smɔl smɔl blɔd vesel dɛn, so dɛn kin nid ɔpreshɔn ilɛksɛf di dayamita smɔl.

Tritmɛnt dɛn we nɔto ɔpreshɔn

Dis na di fɔs tin dɛm wae yu fɔ du fɔ mɛn di sik we dɛn kɔl Marfan syndrome.

• Fɔ chenj di we aw yu de liv yu layf: Yu fɔ rili avɔyd fɔ du tin dɛn we go mek yu at pwɛl mɔ.
• I nɔ fayn fɔ du tin dɛn lɛk fɔ es wet ɔ fɔ push.
• Spɔt dɛn we gɛt bɔku impak lɛk futbɔl, rɔgbi, ɛn bɔksin nɔ fayn.
• Tɔk to yu dɔktɔ fɔ no us ɛgzampul dɛn we nɔ bad ɛn we fayn fɔ yu.
• Di mɛrɛsin dɛn we dɛn kin yuz:
• Dɔktɔ dɛn kin gi mɛrɛsin dɛn we dɛn kɔl `Angiotensin II riseptɔ blɔk (ARB)` ɔ `beta-blɔka` . Dɛn tin ya kin ɛp fɔ slo di rit we di at vesel dɛn de dilayt ɛn kɔntrol di blɔd prɛshɔn.
• Ɛgzam dɛn we dɛn kin du ɔltɛm fɔ tek pikchɔ dɛn na di at:
• Dɔktɔ fɔ de chɛk di at saiz ɛn aw di valv dɛn de. dis kin bi bay we dεn de yuz skan dεm lεk `transthoracic echocardiography (Echo)`, `kכmpyuta tכmografik angiografi (CTA)`, כ `magnεtik rεsכnans angiografi (MRA)`.
• dis tεst dεm kin no di chenj dεm na di at bifo i rכp (dissection).

Di tritmɛnt dɛn we dɛn kin du fɔ ɔpreshɔn

Sɔntɛnde, dɛn nɔ kin ebul fɔ kɔntrol di prɔblɛm dɛn we kin kam wit di at ɛn di blɔd wit mɛrɛsin ɛn chenj dɛn layf nɔmɔ. Na da tɛm de i nid fɔ du ɔpreshɔn.

Di men gol fɔ di at ɔpreshɔn fɔ Marfan sindrom na fɔ mek wan pat pan di at valv we wik, pul am ɛn put atifishal valv, ɔ fɔ mek di at valv we dɔn pwɛl ɔ fɔ mek nyu wan.

Di men gol fɔ dɛn ɔpreshɔn ya na fɔ mek dɛn nɔ gɛt ɛnitin we go mek pɔsin in layf de pan denja lɛk fɔ kɔt di aorta.

Bɔku tɛm, dɛn kin plan ɛn du dɛn ɔpreshɔn ya di de we dɛn dɔn disayd bifo tɛm (elective surgery). Bɔt if wan korona at brok ɔ brok wantɛm wantɛm, dɛn fɔ du am as imejensi.

Bɔku men kayn at ɔpreshɔn dɛn de we dɛn kin du fɔ di sik we dɛn kɔl Marfan syndrome:

• Aortic root replacement: Dis na di ɔpreshɔn we dɛn kin du pas ɔl bikɔs dis pat na di at kin swel ɔ wayd bɔku tɛm.
• Aorta valv ripa ɔ riples.
• ripa fכ wan bulge na di atεri nia di at (`Ascending aortic aneurysm repair`).
• Mitral valv ripa ɔ riplesmɛnt.

Di dɔktɔ we de mɛn yu at go tɔk to yu ɛn disayd us ɔpreshɔn we go fayn fɔ yu.

Yu kin ebul fɔ avɔyd at sik if yu gɛt Marfan syndrome?

Bɔt i sɔri fɔ no se dɛn nɔ kin ebul fɔ avɔyd di sik we dɛn kɔl Marfan syndrome, bikɔs na tin we pɔsin kin gɛt frɔm in jɛnɛtiks. Semweso, di at sik we i kin kam wit nɔ kin ebul fɔ avɔyd am kpatakpata.

Bɔt tin dɛn de we yu kin du fɔ ridyus yu risk fɔ gɛt siriɔs prɔblɛm dɛn, lɛk fɔ kɔt di aɔta:

• Fɔ avɔyd fɔ du tin dɛn we de put strɛs pan di at (as wi bin dɔn tɔk bɔt, fɔ avɔyd fɔ es ebi ebi ɛn spɔt dɛn we gɛt bɔku strɛs).
• Fɔ mek dɛn du di kadyak imej ɛgzam di rayt tɛm lɛk aw di dɔktɔ tɛl yu.
• Fɔ tek ɔl di mɛrɛsin dɛn we dɛn gi yu kɔrɛkt wan ɛn di rayt tɛm.

Wan tin we yu fɔ mɛmba mɔ na dat if yu na uman we gɛt Marfan syndrome ɛn yu de tink bɔt fɔ gɛt bɛlɛ, yu fɔ rili tɔk to yu dɔktɔ bɔt am. stכdi dεn sho se te to 40% pan di uman dεm we gεt Marfan sεndrכm kin gεt kכmplikεshכn we dεn bεlε. So, i rili impɔtant fɔ go to dɔktɔ bifo yu gɛt bɛlɛ.

Wetin na de fiuja fɔ pɔrsin wae gɛt hat sik bikɔs ɔf Marfan syndrome?

If yu de du gud manejmɛnt, dat na fɔ fala dɔktɔ advays ɛn gɛt di tritmɛnt we yu nid, pɔsin we gɛt Marfan syndrome kin liv nɔmal layf, sɔntɛm ivin 70 ɔ 80 ia.

Bɔt, at prɔblɛm na di men tin we kin mek pipul dɛn we gɛt Marfan sindrom day, so i impɔtant fɔ de kɔntakt yu dɔktɔ we de mɛn yu at ɔltɛm fɔ wach yu sik.

Ustɛm a fɔ go to dɔktɔ? Wetin na imejensi?

If yu gɛt ɛni wan pan dɛn sik ya, i kin bi sayn fɔ se di aɔta anɛrizm dɔn brok. Yu fɔ go to dɔktɔ wantɛm wantɛm:

• I nɔ kin no natin wantɛm wantɛm.
• Nɔs ɛn vɔmit.
• Numbness eniwe na di bodi.
• Paralayz (we nɔ ebul fɔ muv sɔm pat dɛn na di bɔdi).
• I nɔ kin izi fɔ yu fɔ blo bad bad wan.
• Wan wan pen we yu nɔ go ebul fɔ bia - na di chɛst, ɔp bak, ɔ na di bɛlɛ.
• We pɔsin de swet pasmak.
• Skin de bi pale ɔ kol we nɔ kɔmɔn.
• Puls we rili wik.

If yu si sayn lɛk dis, nɔ delay ivin wan minit.

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

Marfan sindrom na wan sik we dɛn bɔn wit we kin afɛkt di bɔdi in kɔnektiv tisu dɛm. I kin afɛkt di at mɔ. Bɔt nɔ wɔri. If dɛn no dis sik kwik kwik wan ɛn mɛn am fayn fayn wan, yu kin liv bɔku pan yu nɔrmal layf.

Di tin we impɔtant pas ɔl na:

• Si yu dɔktɔ ɔltɛm.Dɔn i kin wach yu sik ɛn gi yu di tɛst ɛn tritmɛnt we yu nid insay di rayt tɛm.
• Mek di chenj dɛn we yu nid fɔ du na yu layf. Stay away frɔm tin dɛn we de mek yu at pwɛl.
• Tek di mɛrɛsin jɔs lɛk aw dɛn tɛl yu fɔ tek am.
• If dɔktɔ tɛl yu fɔ du ɔpreshɔn, tek tɛm tɔk bɔt am ɛn pik wetin bɛtɛ fɔ yu.

Di mɔ yu no bɔt yu sik, na di mɔ i go izi fɔ yu fɔ kɔntrol am. So, wi op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni kwɛstyɔn, nɔ shem fɔ aks yu dɔktɔ.

` Marfan Syndrome, hat sik, kadiovaskyul sistεm, hat valv, kכnektiv tisu, jεnεtik sik, at כpεrayshכn