Lɛ wi lan bɔt Transthyretin Amyloidosis (ATTR-CM), we kin afɛkt yu at kwayɛt wan.

Sɔntɛnde yu kin fil lɛk se sɔntin de we strenj ɔ difrɛn bɔt yu at? I nɔ go bi big tin, bɔt i kin bi smɔl prɔblɛm if dɛn nɔ no am fayn. Tide wi go tɔk bɔt wan at sik we kɔmplikt smɔl, bɔt i fayn fɔ mek ɔlman no bɔt. dat na transtayrεtin amyloidosis, כ as dכkta dεn kכl am, `(ATTR-CM)`.

Wetin na transtayrɛtin amyloidosis (ATTR-CM)?

fכ sכmtεm, `(ATTR-CM)` na kכndyushכn we de afekt di at, we de riliyt to wan protin na wi bכdi. Lɛ wi ɛksplen dis smɔl mɔ, nɔto so?

Wetin na transtayrɛtin (TTR)?

transthyretin, כ `(TTR)`, na spεshal protin we de insay wi bכdi, we wi liva de mek mεntal wan. I de wok lɛk kɔriɔ savis na wi bɔdi. na dis `(TTR)` protin we de kכri vaytam in A (dεn kכl am bak rεtinol) εn di כmon tayroksin, we di tayroyd gland de mek, go na difrεn pat dεm na di bכdi, usay dεn nid dεm.

Wetin na Amyloidosis?

amyloidosis na di akyumuleshכn fכ protin dεm we nכ shep na difrεn כgan dεm na wi bכdi. Tink bɔt am lɛk bɔku bɔku tin dɛn we nɔ gɛt wan yus na wi os. we di protin dεm de dכn dis we na di at, wi kin kכl am kadyak amyloidosis.

dis abnכmal protin dεm, lεk sכm sכm bכl dεm fכ tכd, de fכm fayv strכkchכ dεm we dεn kכl `fibrils` . dis `fibril` dεm de dכn na di at, spεshal wan na di lεft vεntrikl, di men chεmba we de pכmp bכdi to di כl bכdi. Dis kin mek di at tik smɔl smɔl ɛn stif. Bifo i bi sɔft rɔba bɔl, i kin tan lɛk bɔl we at ɛn we gɛt rɔk. Dis kin mek i nɔ izi fɔ mek di at kɔntrakt fayn ɛn pɔmp blɔd.

Wetin na Kadiomayopati (CM)?

We di at stif ɛn stif, di at mɔsul kin sik. Dis na wetin wi kin kɔl cardiomyopathy (CM) pan mɛrɛsin. Fɔ tɔk am simpul wan, di at mɔsul kin wik. Dis kin mek di at nɔ ebul fɔ pɔmp inof blɔd to di bɔdi. Bɔku tɛm dis kin mek pɔsin gɛt wan siriɔs sik we dɛn kɔl at pwɛl.

mεmba se apat frכm dis kכndyushכn we dεn kכl `(ATTR-CM)`, wan kayn amyloidosis de bak we כda protin we dεn kכl `(layt chen)` de kכz. Dɛn kɔl am `(AL) amyloidosis`. Na difrɛn sik frɔm di `(ATTR-CM)` we wi de tɔk bɔt tide.

Dis kכndyushכn (ATTR-CM) dεn kin kכl am bak wit sεvεra כda nem dεm. Fɔ ɛgzampul, yu kin yɛri dɛn kɔl am kadyak amyloidosis, amyloidosis ATTR, ɔ transthyretin kadyak amyloidosis frɔm dɔktɔ ɔ ɔdasay.

Wetin na di men kayn `(ATTR-CM)`?

Tu men kayn sik de fɔ dis ``(ATTR-CM)``.

1. 1. 1. .Famili/Hɛridit ATTR-CM: .

Dis na wan kayn. Fɔ tɔk am simpul wan, i kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn . Dis kayn tin kin apin bikɔs ɔf wan chenj na wi jin dɛn, we na wan jin we kin chenj. Wi kin kɔl dis famili ɔ hereditary ATTR-CM. insay dis kכndyushכn, di abnכmal protin nכ de nכmכ na di at, bכt i kin de na di nεv sεstem εn sכmtεm na di kidni dεm. difrεn jin mכtεshכn dεm de we de afekt dis bitwin difrεn etnik grup dεm na di wכl.

2. Wail-tayp ATTR-CM: .

Di ɔda kayn na wayl-tayp ATTR-CM. Dɛn nɔ dɔn fɛn ɛni patikyula jɛnɛtik kɔz fɔ dis. I kin apin bay insɛf, ɛn i nɔ kin gɛt ɛni klia rizin. Dis kayn we kin afɛkt di at ɛn di nervɔs sistɛm bak mɔ.

Aw kɔmɔn dis `(ATTR-CM)` sik?

Fɔ tɔk tru, ivin mɛdikal masta sabi pipul dɛn nɔ kin ebul fɔ tɔk ɛksaktɔli ɔmɔs pipul dɛn gɛt dis `(ATTR-CM)` sik. Bɔt dɛn biliv se dis sik kin bɔku na di sosayti pas aw dɛn kin tink naw . Bɔrku tɛm, dɛn nɔr kin no dis sik fayn fayn wan, dat na, i `(underdiagnosed)`.

di jεnεtik vεryכnt kin afekt sכm etnik grup dεm pas כda wan dεm. Fɔ ɛgzampul, dɛn kin si dis jenɛtik mutation mɔ pan blak pipul dɛn na Amɛrika. Bɔt di impɔtant tin na dat nɔto ɔlman we gɛt di muteshon go gɛt dis sik.

Wetin na di tin dɛm we de mek `(ATTR-CM)`?

di men tin we de mek famili ATTR-CM na difεkt, כ chenj, na di jin we de mek di protin TTR we wi bin tכk bכt. Na smɔl tɛm nɔmɔ, pɔsin kin gɛt dis jin chenj fɔ di fɔs tɛm we nɔbɔdi nɔ bin dɔn gɛt dis sik bifo. Dɛn kɔl dis de novo muteshɔn.

Dɔktɔ dɛn stil nɔ no bɛtɛ bɛtɛ wan wetin kin mek pɔsin gɛt wayl-tayp ATTR-CM. Bɔt i kin apin mɔ pan man dɛn we dɔn pas 65. So, dɛn kin tink se we pɔsin ol ɛn, to sɔm mak, man ɔ uman kin bi di tin dɛn we kin mek i gɛt prɔblɛm.

εni wetin di kכz, wetin kin apin leta na we wi bכdi kin bigin fכ prodyuz abnכmal, irכgεl `(TTR)` protin dεm. dis abnכmal protin dεm de brok izi wan, dεn kin tכn wit dεn wan dεm, εn `misfold`. dis na aw dεn de fold, de fכm sכm sכm kכlכm dεm we dεn kכl `amyloid fibrils`. Dɛn tin ya kin travul ɔlsay na di bɔdi tru di blɔd ɛn dɛn kin put dɛn na difrɛn pat dɛn lɛk di at ɛn di nerv dɛn. As tɛm de go, dɛn ɔgan dɛn ya kin bigin fɔ pwɛl.

Wetin na di sayn dɛm fɔ `(ATTR-CM)` sik?

Di sayn dɛm fɔ dis `(ATTR-CM)` sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dɔn bak, di sayn dɛm kin difrɛn fɔ di kayn sik.

• Sɔm pipul dɛm wae gɛt wayl-tayp ATTR-CM nɔr kin gɛt ɛni sayn.If di sayn dɛm de sho, dɛn kin bigin fɔ sho afta i dɔn ol 65 ia.
• Di famili ATTR-CM simptom kin fɔs apia afta di ej 50. Bɔt sɔmtɛm di simptom kin bigin bifo, insay di 20s, ɔ ivin bɔku leta, insay di 80s.

Bɔku tɛm, dɛn `(ATTR-CM)` simptom ya kin rili fiba di simptom dɛm fɔ `(Hat Failure)`. Tink bɔt if yu dɔn de fil dɛn tin ya dis biɛn tɛm:

• Fɔ blo shɔt: Fɔ fil se yu nɔ ebul fɔ blo fayn, mɔ we yu de ledɔm na bed, ɔ ivin we yu de du smɔl smɔl tin dɛn lɛk fɔ waka fɔ shɔt tɛm.
• Fɔ fil ful ɛn blo .
• Kɔnfyus , i nɔ kin izi fɔ yu fɔ tink klia wan.
• Kɔf, fil lɛk hawk (especially wen yu de ledɔm).
• di leg, ankכl, εn fut dεm de swεla (εdima) (lεk se dεn fulכp wit wata).
• Aritmia na at bit we nɔ de bit ɔltɛm, sɔm tɛm dɛn kin kɔl am fast at bit, mɔ wan sik we dɛn kɔl atrial fibrillation.
• At palpitations na filin we di at de bit fast fast, we min se i de fil lɛk se di at de bit/throb .
• Taya na fɔ fil taya ɛn taya ɔltɛm fɔ natin .
• Fɔ fil se yu de tɔn diziz, ɔ lɛk se yu go fɔdɔm .

Wetin na di poshubul komplikashɔn dɛm fɔ `(ATTR-CM)`?

transthyretin amyloidosis (ATTR-CM) kin mek di at ritm dizכrd, mεntal hat fεil εn atrial fibrillation (Afib).

apat frכm dat, if dεn amyloid dεposit dεm ya kכmכt na di nεv sεstem, dεn prכblεm ya kin apin:

• Carpal tunnel syndrome: Dis na kכndyushכn we wan nεv na di wrist de kכmprεs. Bɔku tɛm, di finga dɛn na di tu an dɛn kin swɛla ɛn dɛn kin fil pen, ɛn sɔntɛnde di pen kin wek yu na nɛt.
• Fɔ si blak spat dɛn we de flɔt bifo di yay (ay flota).
• Pɛrifεral nyuropathy: Dis na di damej pan di nεv dεm na di limb dεm. Dis kin mek di an ɛn fut dɛn nɔ gɛt bɛtɛ trɛnk, i kin swɛt, i kin fil pen, ɛn sɔntɛm i nɔ kin fil fayn na di an ɛn fut dɛn.

dis dεposit dεm kin kכmכt sכmtεm na di spayna, we kin mek di spεnal stεnosis. dεn kin bכku bak na difrεn tisu dεm na di bכdi, we kin mek dεn kכndyushכn lεk tεndon rכp.

כda imכtant tin na dat, sכmtεm amyloidosis kin kam wit wan kכndyushכn we dεn kכl aortic stenosis. dis na we di aorta valv we de kכri bכdi kכmכt na di men chεmba na di at we de sכmtεm sכmtεm sכmtεm. If yu dɔktɔ dɔn no se yu gɛt aortic stenosis, yu dɔktɔ kin tɛst yu bak fɔ amyloidosis.Dis impɔtant mɔ if yu gɛt ɔda sayn dɛm, lɛk aw yu at nɔ de bit ɔltɛm ɛn yu gɛt karpal tanɛl sindrom.

Aw dɛn kin no di sik we dɛn kɔl `(ATTR-CM)`?

Infakt, fɔ no dis ``ATTR-CM`` sik kin tranga smɔl sɔmtɛm. Bikɔs, fɔ ɛgzampul, di kayn we aw pɔsin kin bɔn pikin kin sho sayn dɛn we fiba at sik we pɔsin kin gɛt we i gɛt ay blɔd prɛshɔn. So, sɔm pipul kin ivin gɛt ``inkɔrɛkt diagnosis`` fɔs.

Na di ɔda say, di wayl-tayp we nɔ de sho klia wan ɔltɛm. So, dɛn nɔ kin no di sik te wan siriɔs prɔblɛm lɛk at pwɛl hat kam.

Bɔku men tɛst dɛn de we dɔktɔ dɛn kin yuz fɔ no di sik:

• ECG (Electrocardiogram) test: Dis de chɛk di ilɛktrik aktiviti na di at.
• di hat imej tεst dεm: Echocardiogram (dis de luk di shep εn di wok we di at de du), MRI skan, PET skan, εn כda tin dεm.
• Bone scan / Bone scintigraphy: dis kin chεk fכ amyloid dεposit dεm na di bכdi.
• di hat bayopsi: dis involv fכ tek wan rili sכm pat pan di at εn egzamin am כnda maykroskכp fכ si if amyloid dεposit dεm de.
• bכdi tεst: dεn kin no di chenj כ mכtεshכn dεm na di `(TTR)` jin.

Wetin na di tritmɛnt dɛm fɔ `(ATTR-CM)`?

Dis na di kwɛstyɔn we impɔtant pas ɔl fɔ bɔku pipul dɛn. Fɔ tɔk tru, no kɔmplit mɛrɛsin nɔ de fɔ ATTR-CM yet. כlso, nכ difinitiv we nכ de fכ pul di amyloid fayb dεm we dεn dכn כlrεdi dכn na di bכdi.

Bɔt, nɔ fred! Naw, mɛrɛsin dɛn de we kin mek dɛn nyu prɔtin dɛn ya we de ambɔg di sik nɔ bɔku ɛn mek di sik nɔ go bifo kwik kwik wan. Dis na big big rilif.

Apat frɔm dat, dɛn kin gi difrɛn tritmɛnt dɛn fɔ kɔntrol di sayn dɛn we dis sik kin kam wit, lɛk at pwɛl, at at pwɛl, ɛn nyuropathy.

• Sɔm patikyula mɛrɛsin dɛn de we dɛn kin gi fɔ famili ATTR-CM. dis dεm de wok bay we dεn de biεn di TTR protin, stεbyul am, εn mek di protin nכ fכlכd di sכmtεm. Sɔm ɛgzampul dɛn na Tafamidis (Vyndaqel®, Vyndamax®) ɛn Diflunisal (Dolobid®). Diflunisal na rili wan NSAID (nɔ-stɛroyd anti-inflammatory drɔg). Sɔntɛnde dɔktɔ dɛn kin yuz am ‘ɔf-lɛbul’, we min se dɛn nɔ gri fɔ am spɛshal fɔ dis sik, bɔt na bikɔs dɛn gri fɔ am fɔ ɔda kɔndishɔn ɛn i kin gɛt sɔm bɛnifit to dis kɔndishɔn.
• כda dכg dεm de, lεk Inotersen (Tegsedi®) εn Patisiran (Onpattro®), we de wok bay we dεn de slo di liva in prodakshכn fכ dεn fכlt amyloid protin dεm ya.

Na smɔl tɛm nɔmɔ, if di sik wɔs, dɛn kin nid fɔ du dɛn tin ya:

• Wan liva we dɛn kin transplant.
• Wan kidni we dɛn kin transplant.
• Lef ventricular assist device (LVAD) (smɔl mashin we de ɛp di at fɔ pɔmp blɔd) na OK, ɔ as las tin, at transplant.

Yu tink se dɛn kin ebul fɔ protɛkt di sik `(ATTR-CM)`?

if yu gεt di jin mכtεshכn `(TTR)` we de mek famili `(Familial) ATTR-CM`, yu pikin dεm gεt 50% chans fכ inhεrit di jin mכtεshכn. Dat min se nɔto ɔl pikin, bɔt na wan pan tu chans fɔ bɔn pikin. כltu, di imכtant tin fכ mεmba na dat nכto כl pikin we inhεrit dis jin mכtεshכn go divεlכp `(ATTR-CM)`.

If yu gɛt jenɛtik risk factor lɛk dis, i fayn fɔ tɔk to jenɛtik kɔlnɔ we yu de plan fɔ bɔn pikin. Dɔn yu kin lan bɔt di tin dɛn we yu kin pik lɛk fɔ no di jenɛtik we yu dɔn put bifo yu put yu bɔdi (PGD). insay dis mεtכd, dεn de tεst di εmbrayo dεm we dεn mek tru in vitro fεtilayzεshכn (IVF) fכ di prεsεns fכ di difεktiv jin bifo dεn implant dεm na di uterus. afta dat dεn kin pik hεlty εmbriyo dεm we nכ gεt difεkt εn put dεm na di uterus fכ tray fכ ridyus di risk fכ di pikin fכ gεt di jεnεtik kכndyushכn.

Wetin na di fiuja prɔspɛkt fɔ `(ATTR-CM)` pasɛnt dɛn?

Transthyretin amyloidosis (ATTR-CM) na wan sik we de go bifo we kin mek i gɛt siriɔs prɔblɛm dɛn. Bɔt nɔ wɔri! Wit nyu drɔgs lɛk Tafamidis, ɛn bak nyu tritmɛnt dɛm we de na klinik trial naw, layf ɛkspɛkteshɔn ɛn kwaliti fɔ layf de impɔtant. Wan stɔdi sho se di pasɛnt dɛn we bin gɛt di drɔg Tafamidis fɔ 30 mɔnt bin gɛt 13% inkris pan di layf.

Di tin we impɔtant pas ɔl na fɔ go to dɔktɔ we de mɛn yu at ɔltɛm ɛn fala dɛn advays fɔ mek shɔ se yu de gɛt di rayt mɛrɛsin fɔ yu at.

Ustɛm yu fɔ go to dɔktɔ?

If yu gɛt wan ɔ mɔ pan dɛn sayn ya, i rili impɔtant fɔ go to dɔktɔ kwik kwik wan ɛn aks fɔ advays ɛn nɔ fɔ pe atɛnshɔn to dɛn:

• Kɔnfyushɔn ɔ prɔblɛm wit mɛmori wantɛm wantɛm.
• fכ si tin dεm lεk blak spat dεm we de fכlכt bifo di yay dεn kכl am ``Ay floaters''.
• At nɔ de bit ɔltɛm ɔ yu de fil se yu at de bit kwik kwik wan (at de bit).
• I nɔ kin izi fɔ yu fɔ blo.
• Fɔ no rizin we nɔ kliaƐdima ɛn we yu de gɛt mɔ wet.

Us kwɛstyɔn dɛn yu fɔ aks yu dɔktɔ?

If dɛn no se yu gɛt (ATTR-CM), ɔ yu tink se yu gɛt am, i go fayn fɔ aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Us kayn Transthyretin Amyloidosis a gɛt? (Na ɛriti ɔ na wayl-tayp?)
• Wetin de mek dis tin apin to mi?
• a gεt mכtεshכn, כ difεkt, na di `(TTR)` jin?
• Us tritmɛnt dɛn yu kin gi mi?
• Wetin na di bad tin dɛn we dɛn mɛrɛsin ya kin du?
• A go nid sɔntin lɛk fɔ transplant ɔgan dɛn tumara bambay?
• Us sayn dɛm fɔ kɔmplikeshɔn dɛm a fɔ wɔri mɔ bɔt?

Sɔm pan di impɔtant tin dɛn we wi nid fɔ mɛmba frɔm dis stori na

transthyretin amyloidosis, כ ``ATTR-CM``, na kכndyushכn we di protin ``Transthyretin`` de misfold εn deposit insεf na di at lεk sכm sכm ``fibrils.`` dis kin mek di hat chεmba dεm tik εn wik, we de mek i gεt ``cardiomyopathy``.

Sɔm pipul kin gɛt dis sik wae de rɔn na famili (Familial ATTR-CM). Dis min se sɔntin de we de mek pɔsin gɛt sɔntin fɔ du wit in jɛnɛtiks. fכ כda pipul dεm, di kכndyushכn kin divεlכp wit di ej fכ nכ rizin (Wild-type ATTR-CM).

Pan ɔl we dɛn nɔ stil gɛt ɛni mɛrɛsin, sɔm mɛrɛsin ɛn tritmɛnt dɛn de we go ɛp fɔ kɔntrol di nyu prɔtin we de na di bɔdi, fɔ ridyus di sik dɛn, ɛn fɔ mek dɛn nɔ gɛt siriɔs sik lɛk at atak. Na smɔl tɛm nɔmɔ, if di sik go bifo, sɔntin lɛk fɔ transplant ɔgan dɛn kin nid fɔ du am.

De tin wae impɔtant pas ɔl na dat, if yu gɛt ɛni ɔda kayn sik ɔr diskɔmfɔt wae gɛt fɔ du wit yu at, nɔr ignore am as ‘i jɔs apin’ ɛn go to dɔktɔ kwik kwik wan. Bikɔs, lɛk ɛni sik, di mɔ we dɛn no dis kwik kwik wan, na di mɔ chans fɔ bigin tritmɛnt, fɔ mek di prɔblɛm nɔ bɔku, ɛn fɔ liv nɔmal layf.

` Transtayretin amyloidosis, ATTR-CM, hat sik, amyloidosis, at fεil, protin dεposishכn, hεriditi sik dεm