Yu at de fil lɛk se i de at mɔ ɛn mɔ? Lɛ wi tɔk bɔt Transtayrɛtin Amyloidosis (ATTR-CM) .

Sɔntɛnde, yu kin fil lɛk se yu ed de tɔn ivin we yu de waka fɔ shɔt tɛm? Yu kin fil shɔt we yu de go slip? Yu leg ɛn yu anklɛ dɛn kin swel? Yu at de bit strenj ɔ fast? Pan ɔl we bɔku tɛm wi kin tink se dɛn tin ya na nɔmal tin wae kin apin as wi de ol, sɔmtɛm biɛn dɛn sik ya kin gɛt wan sik wae wi nɔr yɛri bɔrku bɔt ɛn wae kin siriɔs if wi nɔr no di sik fayn fayn wan. Wan pan dɛn sik ya na Transthyretin Amyloidosis, ɔ ATTR-CM fɔ shɔt tɛm.

Fɔ tɔk am simpul wan, wetin na Transthyretin Amyloidosis (ATTR-CM)?

Dis na smɔl kɔmplikɛt nem, so lɛ wi brok am wɔd bay wɔd. Dɔn yu go ɔndastand am izi wan.

• Transthyretin (TTR): Dis na wan kayn protin we de insay wi bɔdi. Na wi liva mek am. Di men wok we i de du na fɔ kɛr vaytamɛn A ɛn di tayroyd ɔmon we dɛn kɔl tayroksin tru wi blɔd go na di say dɛn we wi nid na di bɔdi. I tan lɛk pɔsin we de kɛr pasɛl.

• Amyloidosis: Dis na we wan kayn protin, lεk aw wi bin d כn tכk bכt am , de fold di rεs, kכlכm togeda, εn fכm fibril dεm, we lεk sכm sכm bכl dεm fכ tכd, εn de put insay wi כgan dεm. We dɛn put am dis we, di nɔmal wok we dɛn ɔgan dɛn de du kin ambɔg.

• Cardiomyopathy (CM): Dis kin min wan sik we de na di at mɔsul .

Naw, fɔ put ɔl dis togɛda, Transthyretin Amyloidosis (ATTR-CM) na sik we di prɔtin TTR we wi liva de mek, de misfold ɛn klɔmp togɛda, mɔ na wi at mɔsul, we de mek di at mɔsul tik ɛn stif, we de mek i nɔ ebul fɔ pɔmp blɔd fayn fayn wan.

Tu men kayn dis sik de.

ATTR-CM sik kin sheb to tu men kayn.

1. Famili ɔ Hɛridit ATTR-CM:

Dis kin apin bikɔs ɔf wan chenj we de apin na wi jin dɛn. Dis min se wi kin dɔn gɛt di jin fɔ dis sik frɔm wi mama, papa, ɔ sɔmbɔdi na wi famili. insay dis kayn we, di protin kכlכm dεm kin de nכto כnli insay di at, bכt bak na ples dεm lεk di nεv sεstem εn di kidni dεm.

2. 2. .Wail-tayp ATTR-CM: .

Dɛn nɔ dɔn fɛn di rayt tin we kin mek dis kayn tin apin yet. I nɔto tin we pɔsin kin gɛt frɔm in mama ɛn papa. Dis kayn tin kin mɔs si pan man dɛm wae dɔn pas 65. I kin mɔs afɛkt di at ɛn di nervɔs sistɛm.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Aw wi no dis?

De sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔmtɛm, pipul dɛm wae gɛt di ‘wayl-tayp’ kayn nɔr kin sho ɛni sayn at ɔl na di fɔs stej. Ivin if di sayn dɛm wae de sho se yu gɛt dis sik, dɛn kin rili fiba di wan dɛm wae kin gɛt wan sik wae kin kam pan pɔrsin wae gɛt dis sik, so sɔmtɛm i kin at fɔ no bɔt dis sik.

Dis na di sayn dɛm wae pipul dɛm kin si.

Ɔda prɔblɛm dɛn we kin apin bikɔs ɔf dis sik

Dis protin nɔ de jɔs de na di at. I kin mek ɔda prɔblɛm dɛn bak bay we i de put am na di nervɔs sistɛm ɛn ɔda tisu dɛn.

• Carpal Tunnel Syndrome: Dis na kכndyushכn we wan nεv we de rכn tru di wrist de kכmprεs. Pipul wae gɛt dis sik kin gɛt dis sik na dɛn tu an . Di sayn dɛm na di finga dɛm we de swɛ ɛn pen.
• Pεrifεral Nyuropati: Dis na we di nεv dεm na di limb dεm de pwεl. Dis kin mek di an ɛn fut dɛn nɔ gɛt bɛtɛ trɛnk, swɛt, ɛn pen.
• Spinal Stenosis: Na di spεnal kanal we de sכmtεm sכmtεm. Dis kin mek yu gɛt bak pen ɛn yu leg pen.
• Tεndon Rכpshכn: Na wan tεndon we de rכp fכ insεf na di an כ leg.

Aw di dɔktɔ kin no dis sik klia wan?

Bikɔs di sayn dɛm fɔ dis sik tan lɛk di kɔmɔn at sik dɛm, dɛn kin du sɔm spɛshal tɛst fɔ no if i gɛt am kɔrɛkt wan.

• Ilɛktrokardiogram (ECG): Na tɛst fɔ no aw di at de wok wit ilɛktrik.
• Echocardiogram: Dis na skan fɔ di at. I kin ebul fɔ wach tin dɛn lɛk aw di at mɔsul tik ɛn aw i de wok fayn fayn wan.
• Cardiac MRI: Dis na ɔda dip skan fɔ di at.
• Bone Scintigraphy (Bone Scan): Dis na wan spɛshal tɛst we rili spɛshal. dis skan we dεn kin du fכ egzamin di bon dεm, kin no if di amyloid protin de dכn na di at.
• Blɔd tɛst: Dɛn kin du jɛnɛtik tɛst fɔ si if ɛni chenj de na di TTR jin.
• Hat Bayopsi: Sɔntɛnde, dɛn kin tek wan rili smɔl pat pan di at mɔsul ɛn chɛk am fɔ no if pɔsin gɛt di sik.

Ɛni tritmɛnt de? Yu tink se dɛn go ebul fɔ mɛn dis kpatakpata?

naw, nכ mכd nכ de f כ ATTR-CM, εn nכ we de fכ pul di protin kכlכm dεm we dεn כlrεdi fכm na di at.

Bɔt nɔ wɔri. Naw, mɛrɛsin dɛn de we rili wok we kin kɔntrol dis sik, dat na fɔ stɔp ɔ slo di fɔmɛshɔn ɛn dipɔzishɔn fɔ nyu prɔtin klɔmp dɛn. Dɛn mɛrɛsin ya kin mek di sik nɔ wɔs.

• TTR Stabilizers: Drug dεm lεk Tafamidis (Vyndaqel®, Vyndamax®) de tay di TTR protin εn mek i nכ fכl di kכrekt wan.
• TTR Saylens: Drug dεm lεk Patisiran (Onpattro®) εn Inotersen (Tegsedi®) de ridyus di prodakshכn fכ dis fכlt protin we di liva de mek.

Apat frɔm dɛn mɛrɛsin ya, dɛn kin gi yu tritmɛnt dɛn bak fɔ kɔntrol yu sik dɛn. Fɔ ɛgzampul:

• Mɛrɛsin fɔ kɔntrol at sik.
• Mɛrɛsin fɔ di prɔblɛm dɛn we kin mek pɔsin gɛt at ritm.
• Mɛrɛsin fɔ mek pɔsin nɔ gɛt wata.

Na smɔl tɛm nɔmɔ, we di sik rili bad, i kin nid fɔ yuz sɔntin lɛk fɔ transplant liva, fɔ transplant yu kidni, ɔ fɔ transplant yu at.