So wo koma te nka sɛ ɛreyɛ den? Momma yɛnka Transthyretin Amyloidosis (ATTR-CM) ho asɛm .

Ɛtɔ mmere bi a, sɛ wonam kwan tiaa bi mpo a, wo tirim yɛ wo yaw? So wote nka sɛ wo home yɛ wo yaw bere a worekɔda no? So wo nan ne wo nansoaa hohoro? So wo koma bɔ anwonwakwan so anaasɛ ɛbɔ ntɛmntɛm? Ɛwom sɛ yɛtaa susuw sɛ saa nneɛma yi yɛ nneɛma a ɛfata a ɛba bere a yɛrenyin de, nanso ɛtɔ mmere bi a tebea bi wɔ saa sɛnkyerɛnne ahorow yi akyi a yɛntee ho asɛm pii na sɛ wɔanhu no yiye a ebetumi ayɛ aniberesɛm. Yare a ɛte saa no biako ne Transthyretin Amyloidosis, anaa ATTR-CM tiawa.

Sɛ yɛbɛka no tiawa a, dɛn ne Transthyretin Amyloidosis (ATTR-CM)?

Eyi yɛ din a ɛyɛ den kakra, enti momma yɛnkyekyɛ mu asɛmfua biara. Afei wobɛte ase ntɛm ara.

• Transthyretin (TTR): Eyi yɛ protein bi a ɛwɔ yɛn nipadua mu. Yɛn mmerɛbo na ɛyɛ. Ne dwumadi titiriw ne sɛ ɛde vitamin A ne thyroid hormone thyroxine bɛfa yɛn mogya mu akɔ mmeae a ɛho hia wɔ nipadua no mu. Ɛte sɛ obi a ɔde nneɛma kɔma obi a okura nneɛma a wɔde kɔma nkurɔfo.

• Amyloidosis: Eyi ne bere a protein bi, sɛnea yɛaka ho asɛm wɔ atifi hɔ no , bobɔw wɔ ɔkwan a ɛnteɛ so, bom, na ɛyɛ nhama, a ɛte sɛ asaawa nketenkete, na ɛkɔ yɛn akwaa mu. Sɛ wɔde sie saa kwan yi so a, sɛe sɛnea saa akwaa no yɛ adwuma sɛnea ɛsɛ.

• Cardiomyopathy (CM): Eyi kyerɛ yare bi a ɛwɔ koma ntini mu .

Afei, sɛ yɛbɛka eyinom nyinaa abom a, Transthyretin Amyloidosis (ATTR-CM) yɛ yare a protein TTR a yɛn mmerɛbo na ɛyɛ no no bom wɔ ɔkwan a ɛnteɛ so na ɛbom, titiriw wɔ yɛn koma ntini mu, na ɛma koma ntini no yɛ den na ɛyɛ den, na ɛmma entumi nkɔ mogya yiye.

Saa yare yi ahorow atitiriw abien na ɛwɔ hɔ.

Wobetumi akyekyɛ ATTR-CM yare no mu abien titiriw.

1. Abusua anaa Awosu mu ATTR-CM:

Nsakrae bi a ɛba yɛn awosu mu nkwaadɔm mu na ɛde eyi ba. Eyi kyerɛ sɛ ebia yɛanya awosu mu awosu mu yare yi fii yɛn maame, yɛn papa, anaa yɛn abusua mu obi hɔ. Wɔ saa su yi mu no, ɛnyɛ koma no mu nko na protein akuwakuw betumi akɔto hɔ, na mmom mmeae te sɛ ntini ne asaabo nso.

2. 2. .ATTR-CM a ɛyɛ wuram de:

Wonnya nhuu nea ɛde saa ɔkwan yi ba ankasa. Ɛnyɛ awosu mu ade. Wɔtaa hu saa ɔkwan yi wɔ mmarima a wɔadi boro mfe 65. Ɛka koma ne ntini titiriw.

Dɛn ne sɛnkyerɛnne ahorow no? Yɛyɛ dɛn hu eyi?

Saa yare yi ho sɛnkyerɛnne betumi ayɛ soronko wɔ onipa biara ho. Ɛtɔ da bi a, ebia nnipa a wɔwɔ ‘wild-type’ type no renkyerɛ sɛnkyerɛnne biara koraa wɔ mfiase no. Sɛ sɛnkyerɛnne ahorow no da adi mpo a, ɛte sɛ nea ɛwɔ komayare a ɛtaa ba no mu, enti ɛtɔ mmere bi a ebetumi ayɛ den sɛ wobehu yare yi.

Eyinom ne sɛnkyerɛnne ahorow a wɔtaa hu.

Nsɛnnennen afoforo a ebetumi aba esiane yare yi nti

Ɛnyɛ koma no mu nko na protein yi sie. Ebetumi de ɔhaw afoforo nso aba denam nea ɛbɛto ntini ne ntini afoforo mu no so.

• Carpal Tunnel Syndrome: Eyi yɛ tebea a ɛma ntini bi a ɛfa nsateaa no mu no mia. Nnipa a wɔwɔ saa tebea yi betumi anya saa tebea yi wɔ wɔn nsa abien no nyinaa mu . Nsɛnkyerɛnne no bi ne nsateaa a ɛyɛ mmerɛw na ɛyɛ yaw.
• Peripheral Neuropathy: Eyi ne bere a ntini a ɛwɔ akwaa no mu no sɛe. Eyi betumi ama akwaa no ayɛ mmerɛw, ayɛ no yaw, na ayɛ yaw.
• Akyi berɛmo mu Stenosis: Akyi berɛmo mu kwan a ɛyɛ teateaa. Eyi betumi ama akyi ayɛ yaw na anan ayɛ no yaw.
• Tendon Ruptures: Ntini a ɛpaapae wɔ abasa anaa nan mu a ɛba ara kwa.

Ɔkwan bɛn so na oduruyɛfo no hu yare yi pɛpɛɛpɛ?

Esiane sɛ yare yi ho sɛnkyerɛnne te sɛ komayare a ɛtaa ba nti, ehia sɛ wɔyɛ nhwehwɛmu titiriw pii na ama wɔahu no pɛpɛɛpɛ.

• Electrocardiogram (ECG): Ɛyɛ sɔhwɛ a ɛkyerɛ sɛnea koma no mu anyinam ahoɔden yɛ adwuma.
• Echocardiogram: Eyi yɛ koma no mu nhwehwɛmu. Etumi hwɛ nneɛma te sɛ koma ntini no mu duru ne ne dwumadi so yiye.
• Koma mu MRI: Eyi yɛ koma no mu nhwehwɛmu foforo a emu dɔ.
• Bone Scintigraphy (Bone Scan): Eyi yɛ sɔhwɛ titiriw bi. Saa scan yi a wɔtaa yɛ de hwehwɛ nnompe mu no tumi hu sɛ ebia amyloid protein akɔto koma no mu anaa.
• Mogya mu nhwehwɛmu: Wobetumi ayɛ awosu mu nhwehwɛmu de ahwɛ sɛ nsakrae bi aba TTR awosu mu nkwaadɔm mu anaa.
• Koma mu Nhwehwɛmu: Ɛtɔ mmere bi a, ɛsɛ sɛ wɔfa koma ntini ketewaa bi na wɔhwehwɛ mu de si yare no so dua.

So ayaresa bi wɔ hɔ? So wobetumi asa eyi koraa?

Mprempren, wonni aduru biara a wɔde sa ATTR-CM, na ɔkwan biara nni hɔ a wɔbɛfa so ayi protein akuwakuw a ayɛ dedaw wɔ koma no mu no afi hɔ.

Nanso mma ɛnhaw wo. Mprempren nnuru a etu mpɔn yiye wɔ hɔ a ebetumi asiw yare yi ano, kyerɛ sɛ, ɛbɛma protein akuwakuw foforo a ɛba ne nea ɛbɛkɔ fam no agyae anaasɛ ɛbɛma ayɛ brɛoo. Saa nnuru yi betumi asiw yare no ano.

• TTR Stabilizers: Nnuru te sɛ Tafamidis (Vyndaqel®, Vyndamax®) kyekyere TTR protein no ho na ɛmma ɛnbobɔw wɔ ɔkwan a ɛnteɛ so.
• TTR Silencers: Nnuru te sɛ Patisiran (Onpattro®) ne Inotersen (Tegsedi®) brɛ protein a mfomso wom yi a mmerɛbo no yɛ no ase.

Nnuru yi akyi no, wobetumi ama wo ayaresa ahorow nso de adi wo yare no ho sɛnkyerɛnne ahorow so. Nhwɛsoɔ:

• Nnuru a wɔde siw komayare ano.
• Nnuru a wɔde sa koma a ɛyɛ den.
• Nnuru a wɔde yɛ nsu a ɛkɔ nipadua no mu.

Ɛntaa mma koraa, wɔ yare no a emu yɛ den yiye mu no, ebia ɛho behia sɛ wɔde wɔn ho to biribi te sɛ mmerɛbo a wɔde bɛma obi foforo, asaabo a wɔde bɛma obi foforo, anaa koma a wɔde bɛma obi foforo so.