Momma yensua Transthyretin Amyloidosis (ATTR-CM) a ɛka wo koma komm no ho ade.

So ɛtɔ da bi a wote nka sɛ biribi a ɛyɛ nwonwa anaa soronko bi wɔ wo koma mu? Ebia ɛnyɛ asɛm kɛse, nanso sɛ wɔanhu yiye a, ebetumi ayɛ ɔhaw kakra. Ɛnnɛ yɛbɛka komayare bi a ɛyɛ den kakra ho asɛm, nanso ɛfata sɛ obiara hu. Ɛno ne transthyretin amyloidosis, anaa sɛnea nnuruyɛfo frɛ no no, `(ATTR-CM)`.

Dɛn ne transthyretin amyloidosis (ATTR-CM) a ɛwɔ nipadua no mu?

Sɛ yɛbɛka no tiawa a, `(ATTR-CM)` yɛ tebea a ɛka koma no, a ɛne protein bi a ɛwɔ yɛn nipadua mu wɔ abusuabɔ. Momma yɛnkyerɛkyerɛ eyi mu kakra, ɛnte saa?

Dɛn ne transthyretin (TTR)?

Transthyretin, anaa `(TTR)`, yɛ protein soronko bi a ɛwɔ yɛn mogya mu, a yɛn mmerɛbo titiriw na ɛyɛ. Ɛyɛ adwuma te sɛ nkrasɛm adwuma wɔ yɛn nipadua mu. Ɛyɛ saa `(TTR)` protein yi na ɛde vitamin A (a wɔsan frɛ no retinol) ne hormone thyroxine, a thyroid ntini no yɛ no kɔ nipadua no afã horow, baabi a wohia.

Dɛn ne Amyloidosis?

Amyloidosis yɛ protein ahorow a ɛnyɛ ne kwan so a ɛboaboa ano wɔ yɛn nipadua no akwaa ahorow mu. Fa no sɛ nneɛma a mfaso nni so a wɔaboaboa ano wɔ yɛn fie. Sɛ wɔde protein ahorow gu koma no mu wɔ saa kwan yi so a, yɛfrɛ no koma mu amyloidosis.

Saa protein ahorow a ɛnyɛ ne kwan so yi, te sɛ asaawa bɔɔl nketewa, yɛ nhama a wɔfrɛ no `fibrils` . Saa `fibrils` yi kowie koma no mu, titiriw wɔ benkum ventricle, dan titiriw a ɛde mogya kɔ nipadua no nyinaa mu no mu. Eyi ma koma no yɛ den nkakrankakra na ɛyɛ den. Sɛ́ anka ɛbɛyɛ rɔba bɔɔl a ɛyɛ mmerɛw no, ɛbɛyɛ te sɛ bɔɔl a ɛyɛ den na abotan wom. Eyi ma ɛyɛ den ma koma no sɛ ɛbɛtwetwe no yiye na abɔ mogya.

Dɛn ne Koma ne Ntini mu Yare (CM)?

Sɛ koma no yɛ den na ɛyɛ den a, koma no ntini no yɛ yare. Eyi ne nea yɛfrɛ no wɔ aduruyɛ mu no cardiomyopathy (CM). Sɛ yɛbɛka no tiawa a, koma ntini no yɛ mmerɛw. Eyi ma koma no ntumi mfa mogya a ɛdɔɔso nkɔ nipadua no mu. Eyi taa de tebea bi a emu yɛ den a wɔfrɛ no komayare ba.

Kae sɛ, wɔ tebea yi a wɔfrɛ no `(ATTR-CM)` akyi no, amyloidosis bi nso wɔ hɔ a protein foforo a wɔfrɛ no `(light chain)` na ɛde ba. Wɔfrɛ no `(AL) amyloidosis`. Ɛyɛ yareɛ soronko wɔ `(ATTR-CM)` a yɛreka ho asɛm nnɛ no ho.

Saa tebea yi (ATTR-CM) no, wɔde din afoforo pii nso frɛ no. Sɛ nhwɛso no, ebia wobɛte sɛ wɔka ho asɛm sɛ koma mu amyloidosis, amyloidosis ATTR, anaa transthyretin koma mu amyloidosis fi nnuruyɛfo anaa mmeae afoforo.

Dɛn ne `(ATTR-CM)` ahorow titiriw?

Saa ``(ATTR-CM)`` yareɛ yi ahodoɔ titire mmienu na ɛwɔ hɔ.

1. 1. Nnipa a wɔte saa.Abusua/Agyapade mu ATTR-CM:

Eyi yɛ ɔkwan biako. Sɛ yɛbɛka no tiawa a, wɔde fi awo ntoatoaso so kɔ awo ntoatoaso so . Saa ɔkwan yi fi nsakrae a ɛba yɛn awosu mu nkwaadɔm mu, awosu mu nkwaadɔm mu nsakrae. Yɛfrɛ eyi abusua anaa agyapade ATTR-CM. Wɔ saa tebea yi mu no, ɛnyɛ koma no mu nko na protein a ɛnyɛ ne kwan so no betumi akɔto hɔ, na mmom ntini ahorow no mu na ɛtɔ mmere bi a asaabo mu nso. Awosu mu nkwaadɔm mu nsakrae ahorow wɔ hɔ a ɛka eyi wɔ mmusuakuw ahorow mu wɔ wiase.

2. Wiase-su ATTR-CM:

Ɔkwan foforo no ne wuram-su ATTR-CM. Wonhuu awosu mu ade pɔtee biara a ɛde eyi ba. Ɛba ara kwa, a biribiara a emu da hɔ a ɛde ba. Saa ɔkwan yi nso ka koma ne ntini ahorow titiriw.

Saa `(ATTR-CM)` yare yi abu so dɛn?

Sɛ yɛbɛka nokware a, aduruyɛ ho abenfo mpo ntumi nka nnipa dodow pɔtee a wɔwɔ saa `(ATTR-CM)` yare yi. Nanso wogye di sɛ ebia yare yi abu so kɛse wɔ ɔmanfo mu sen sɛnea wosusuw mprempren . Mpɛn pii no, wɔanhu saa yare yi yiye, kyerɛ sɛ, ɛyɛ `(wɔanhu no yiye)`.

Ebia awosu mu nsakrae no bɛka mmusuakuw bi asen afoforo. Sɛ nhwɛso no, wohu saa awosu mu nsakrae yi kɛse wɔ abibifo a wɔwɔ United States no mu. Nanso, nea ɛho hia ne sɛ ɛnyɛ obiara a ɔwɔ mutation no na obenya yare no.

Dɛn ne nneɛma a ɛde `(ATTR-CM)` ba?

Nea ɛde abusua mu ATTR-CM ba titiriw ne sintɔ, anaa nsakrae a ɛba awosu mu abɔde a ɛma protein TTR a yɛadi kan aka ho asɛm no mu. Ɛntaa mma koraa sɛ obi betumi anya saa awosu mu nsakrae yi nea edi kan a abusua no mu biara anya tebea no pɛn. Wɔfrɛ eyi de novo mutation.

Nnuruyɛfo da so ara nnim nea ɛde wuram ATTR-CM ba ankasa. Nanso, ɛtaa ba mmarima a wɔadi boro mfe 65. Enti, wosusuw sɛ onyin ne, kodu baabi no, ɔbarima ne ɔbea nna betumi ayɛ asiane ahorow.

Ɛmfa ho nea ɛde ba biara no, nea awiei koraa no ɛba ne sɛ yɛn nipadua no fi ase yɛ protein ahorow a ɛnyɛ ne kwan so, a ɛnkɔ so daa `(TTR)`. Saa protein ahorow a ɛnyɛ ne kwan so yi bubu ntɛmntɛm, ɛne wɔn ho wɔn ho hyehyɛ wɔn ho, na `misfold`. Eyi ne sɛnea wɔbobɔw, na ɛyɛ akuwakuw nketewa a wɔfrɛ no `amyloid fibrils`. Eyinom fa mogya no mu fa nipadua no nyinaa mu na ɛkɔhyɛ akwaa ahorow te sɛ koma ne ntini ahorow mu. Bere kɔ so no, saa akwaa ahorow yi fi ase sɛe.

Dɛn ne `(ATTR-CM)` yareɛ no ho sɛnkyerɛnne?

Saa `(ATTR-CM)` yareɛ yi ho nsɛnkyerɛnneɛ tumi gu ahodoɔ kɛseɛ wɔ onipa biara mu. Afei nso, sɛnkyerɛnne ahorow no gu ahorow gyina yare ko a obi wɔ so.

• Ebia nnipa binom a wɔwɔ wuram ATTR-CM no rennya yare no ho sɛnkyerɛnne biara.Sɛ sɛnkyerɛnne ahorow no da adi ampa a, mpɛn pii no efi ase da adi wɔ mfe 65 akyi.
• Abusua mu ATTR-CM sɛnkyerɛnne taa di kan ba bere a wɔadi mfe 50. Nanso, ɛtɔ mmere bi a, sɛnkyerɛnne ahorow no betumi afi ase ntɛm, wɔ mfe 20 mu, anaasɛ akyiri yi koraa mpo, wɔ mfe 80 mu.

Mpɛn pii no, saa `(ATTR-CM)` sɛnkyerɛnne ahorow yi te sɛ `(Heart Failure)` sɛnkyerɛnne ahorow no ara pɛ. Susuw ho hwɛ sɛ ebia worete saa nneɛma yi nka nnansa yi anaa:

• Ɔhome a ɛyɛ tiaa: Ɔhome a wɔte nka sɛ wo ho yɛ den, titiriw bere a ɔda mpa so, anaasɛ mpo woreyɛ apɔw-mu-teɛteɛ nketenkete te sɛ nantew kwan tiaa bi.
• Sɛ wote nka sɛ woayɛ ma na wo ho ayɛ wo hyew .
• Confused , ɛyɛ den ma no sɛ obesusuw nneɛma ho yiye.
• Ɔfe, te nka sɛ ɔkraman (titiriw bere a ɔda fam no).
• Nan, anan, ne nan a ɛho ahonhon (edema) (te sɛ nea nsu ahyɛ mu ma).
• Arrhythmia yɛ koma a ɛbɔ a ɛnteɛ, na ɛtɔ mmere bi a wɔfrɛ no koma a ɛbɔ ntɛmntɛm, titiriw tebea a wɔfrɛ no atrial fibrillation.
• Koma a ɛbɔ yɛ nkate a ɛma koma no bɔ ntɛmntɛm yiye, a ɛkyerɛ sɛ ɛte sɛ nea koma no rebɔ/rebɔ .
• Ɔbrɛ yɛ ɔbrɛ ne ɔbrɛ a wɔte nka bere nyinaa a ntease biara nnim .
• Sɛ wote nka sɛ wo ho ayɛ wo hyew, anaasɛ ɛte sɛ nea wobɛtotɔ piti .

Dɛn ne nsɛnnennen a ebetumi aba wɔ `(ATTR-CM)` ho?

Transthyretin amyloidosis (ATTR-CM) betumi ama koma no ayɛ basaa, titiriw no koma a entumi nyɛ adwuma yiye ne atrial fibrillation (Afib).

Bio nso, sɛ saa amyloid ahorow yi boaboa ano wɔ ntini ahorow no mu a, ɔhaw ahorow a edidi so yi betumi aba:

• Carpal tunnel syndrome: Eyi yɛ tebea a ɛma ntini bi a ɛwɔ nsateaa mu no mia. Mpɛn pii no, nsa abien no nyinaa nsateaa yɛ mmerɛw na ɛyɛ yaw, na ɛtɔ mmere bi a ɛyaw no kanyan wo anadwo.
• Sɛ wuhu nsensanee tuntum a ɛrehuruhuruw wɔ aniwa no anim (aniwa a ɛsensɛn nsu mu).
• Peripheral neuropathy: Eyi yɛ ntini a ɛwɔ akwaa no mu a ɛsɛe. Eyi betumi ama akwaa no ayɛ mmerɛw, ayɛ no yaw, ayɛ no yaw, na ebia wahwere nkate wɔ akwaa no mu.

Ɛtɔ mmere bi a, saa nneɛma yi betumi aboaboa ano wɔ akyi berɛmo no mu, na ama akyi berɛmo no ayɛ mmerɛw. Wobetumi nso ayɛ kɛse wɔ nipadua no mu ntini ahorow mu, na ɛde tebea horow te sɛ ntini a ɛpaapae ba.

Ade foforo a ɛho hia ne sɛ ɛtɔ mmere bi a tebea bi a wɔfrɛ no aortic stenosis ka amyloidosis ho. Eyi yɛ aortic valve a ɛde mogya fi koma no dan titiriw no mu no a ɛyɛ teateaa. Sɛ wo duruyɛfo ahu sɛ wowɔ aortic stenosis a, wo duruyɛfo nso betumi asɔ wo ahwɛ sɛ wowɔ amyloidosis anaa.Eyi ho hia titiriw sɛ wowɔ sɛnkyerɛnne afoforo te sɛ koma a ɛbɔ daa ne carpal tunnel syndrome a.

Ɔkwan bɛn so na wohu `(ATTR-CM)` yare no?

Nokwarem no, ɛtɔ mmere bi a, sɛ wobehu saa ``ATTR-CM`` yare yi a, ebetumi ayɛ den kakra. Efisɛ, sɛ nhwɛso no, awosu mu su no betumi ada sɛnkyerɛnne ahorow a ɛte sɛ komayare a mogya mmoroso de ba no adi. Enti, ebia nnipa binom mpo benya ``nhwehwɛmu a ɛnteɛ`` mfiase no.

Ɔkwan foforo so no, ɛnyɛ bere nyinaa na wuram de no da sɛnkyerɛnne ahorow a ɛda adi pefee adi. Enti, ebia wɔrenhu yare no kosi sɛ ɔhaw a emu yɛ den te sɛ komayare bɛba.

Nhwehwɛmu atitiriw pii wɔ hɔ a nnuruyɛfo de hu yare no:

• ECG (Electrocardiogram) sɔhwɛ: Eyi hwɛ sɛnea koma no mu anyinam ahoɔden yɛ adwuma.
• Koma mu mfoniniyɛ mu nhwehwɛmu: Echocardiogram (eyi hwɛ sɛnea koma no te ne sɛnea ɛyɛ adwuma), MRI scan, PET scan, ne nea ɛkeka ho.
• Bone scan / Bone scintigraphy: Eyi betumi ahwɛ sɛ amyloid a ɛwɔ nipadua no mu no wɔ hɔ anaa.
• Koma mu nhwehwɛmu: Eyi hwehwɛ sɛ woyi ntini ketewaa bi fi koma no mu na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu hwɛ sɛ ebia amyloid a ɛwɔ hɔ anaa.
• Mogya mu nhwehwɛmu: Eyinom tumi hu nsakrae anaa nkwaadɔm mu nsakrae wɔ `(TTR)` awosu mu abɔde mu.

Dɛn ne ayaresa ahorow a wɔde sa `(ATTR-CM)`?

Eyi ne asɛmmisa a ɛho hia sen biara ma nnipa pii. Sɛ yɛbɛka nokware a, wonnya nnyaa ATTR-CM aduru a edi mũ . Afei nso, ɔkwan pɔtee biara nni hɔ a wɔbɛfa so ayi amyloid nhama a wɔde ahyɛ nipadua no mu dedaw no afi hɔ.

Nanso, nsuro! Mprempren nnuru bi wɔ hɔ a ebetumi atew protein foforo a epira yi a ɛbɛboaboa ano no so na ama yare no akɔ so brɛoo. Eyi yɛ ahotɔ kɛse.

Bio nso, wɔde ayaresa ahorow a ɛsono emu biara ma de siw sɛnkyerɛnne ahorow a yare yi mu nsunsuanso bɔne te sɛ komayare, koma a ɛnyɛ den, ne ntini mu yare de ba no so.

• Nnuru pɔtee bi wɔ hɔ a wɔde ma abusua ATTR-CM. Eyinom yɛ adwuma denam TTR protein no a ɛkyekyere no, ɛma ɛyɛ den, na ɛmma protein no ntumi nkɔ baabiara a ɛnteɛ no so. Nhwɛsoɔ bi ne Tafamidis (Vyndaqel®, Vyndamax®) ne Diflunisal (Dolobid®). Diflunisal yɛ NSAID (aduru a ɛnyɛ steroid a ɛko tia ɔyare mmoawa) ankasa. Ɛtɔ da bi a nnuruyɛfo de di dwuma ‘off-label’, a ɛkyerɛ sɛ wɔmpene so pɔtee mma tebea yi, na mmom esiane sɛ wɔapene so ama tebea afoforo na ebia ɛbɛyɛ mfaso bi ama tebea yi nti.
• Nnuru afoforo wɔ hɔ, te sɛ Inotersen (Tegsedi®) ne Patisiran (Onpattro®), a ɛyɛ adwuma denam mmerɛbo no a ɛma amyloid protein ahorow a mfomso wom yi yɛ brɛoo no so.

Ɛntaa mma koraa sɛ, sɛ yare no mu yɛ den a, ebia nea edidi so yi ho behia:

• Mmɛn a wɔde ma obi foforo.
• Asaabo a wɔde si ananmu.
• Benkum ventricular assist device (LVAD - Left Ventricular Assist Device) (eyi yɛ afiri ketewa bi a ɛboa ma koma no ma mogya) yɛ OK, anaasɛ sɛ ɔkwan a etwa to no, koma a wɔde bɛma obi foforo no yɛ OK.

So wobetumi asiw yare `(ATTR-CM)` ano?

Sɛ wowɔ awosu mu nkwaadɔm mu nsakrae a ɛde abusua mu ATTR-CM ba a, wo mma wɔ hokwan 50% sɛ wobenya nkwaadɔm mu nsakrae no. Eyi kyerɛ sɛ ɛnyɛ mmofra nyinaa na wobenya bi, na mmom hokwan abien biara mu biako. Nanso, ɛho hia sɛ yɛkae sɛ ɛnyɛ mmofra a wobenya nkwaadɔm mu nsakrae no nyinaa na wobenya ATTR-CM.

Sɛ wowɔ awosu mu asiane bi te sɛ eyi a, ɛbɛyɛ papa sɛ wo ne awosu mu ɔfotufo bi bɛkasa bere a woreyɛ nhyehyɛe sɛ wobɛwo mma no. Afei wubetumi asua akwan horow te sɛ preimplantation genetic diagnosis (PGD) ho ade. Wɔ saa kwan yi so no, wɔsɔ nkwaboaa a wɔnam in vitro fertilization (IVF) so yɛe no hwɛ sɛ ebia awosu mu abɔde a asɛe no wɔ hɔ anaa ansa na wɔde ahyɛ awotwaa no mu. Afei wobetumi apaw nkwaboaa a ɛte apɔw a sintɔ biara na wɔde ahyɛ awotwaa no mu de abɔ mmɔden sɛ wɔbɛtew asiane a ɛwɔ hɔ sɛ abofra no benya awosu mu tebea no afi awo mu no so.

Dɛn ne daakye anidaso a ɛwɔ hɔ ma `(ATTR-CM)` ayarefo?

Transthyretin amyloidosis (ATTR-CM) yɛ yare a ɛkɔ so yɛ den a awiei koraa no ebetumi de nsɛnnennen a emu yɛ den aba. Nanso mma ɛnhaw wo! Esiane nnuru foforo te sɛ Tafamidis, ne ayaresa foforo a wɔresɔ ahwɛ mprempren wɔ ayaresabea nti, nkwa nna ne asetra pa renya nkɔso. Nhwehwɛmu bi kyerɛe sɛ ayarefo a wɔmaa wɔn aduru Tafamidis asram 30 no nyaa nkwa nna kɔɔ soro 13%.

Ade a ɛho hia sen biara ne sɛ wobɛkɔ koma ho oduruyɛfo nkyɛn daa na woadi wɔn afotu akyi de ahwɛ ahu sɛ worenya nnuru a ɛfata ma wo koma.

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

Sɛ wowɔ sɛnkyerɛnne ahorow a edidi so yi mu biako anaa nea ɛboro saa a, ɛho hia yiye sɛ wobɛkɔ oduruyɛfo nkyɛn ntɛm ara na woahwehwɛ afotu a wummu w’ani ngu so:

• Adwene a ɛyɛ basaa mpofirim anaasɛ ɔhaw a ɛba obi a ɔkae ade.
• Sɛ wohu nneɛma te sɛ nsensanee tuntum a ɛsensɛn aniwa anim a, wɔfrɛ no ``Eye floaters''.
• Koma a ɛbɔ daa anaasɛ koma a ɛbɔ ntɛmntɛm (koma a ɛbɔ denneennen).
• Ɔhome a ɛyɛ den.
• Esiane ntease biara a ɛda adi ntiEdema ne mu duru a ɛkɔ soro.

Nsɛm bɛn na ɛsɛ sɛ wubisa wo duruyɛfo?

Sɛ wohu sɛ wowɔ (ATTR-CM), anaasɛ wususuw sɛ wowɔ bi a, ɛyɛ papa sɛ wubebisa wo duruyɛfo nsɛm te sɛ eyinom:

• Transthyretin Amyloidosis bɛn na mewɔ? (Agyapade anaasɛ wuram de?)
• Dɛn na ɛde tebea yi reba me so?
• So mewɔ mutation, anaa sintɔ, wɔ `(TTR)` gene no mu?
• Ayaresa bɛn na wohyɛ ho nyansa ma me?
• Dɛn ne nnuru yi mu nsunsuanso bɔne?
• So mehia biribi te sɛ akwaa a wɔde bɛma me daakye?
• Nsɛnnennen ho sɛnkyerɛnne bɛn na ɛsɛ sɛ ɛhaw me titiriw?

Nneɛma a ɛho hia paa a ɛsɛ sɛ yɛkae fi saa asɛm yi mu no bi ne

Transthyretin amyloidosis, anaa ``ATTR-CM``, yɛ tebea a protein ``Transthyretin`` no ntumi nkɔ so yiye na ɛkɔto koma no mu sɛ ``fibrils nketewa.`` Eyi betumi ama koma no mu adan no ayɛ kɛse na ayɛ mmerɛw, na ɛde ``cardiomyopathy`` aba.

Ebia nnipa binom benya saa tebea yi a ɛkɔ so wɔ mmusua mu (Abusua ATTR-CM). Eyi kyerɛ sɛ awosu mu nkɛntɛnso bi wɔ hɔ. Wɔ afoforo fam no, tebea no betumi aba bere a obi nyin a ntease biara nni mu (Wild-type ATTR-CM).

Ɛwom sɛ wɔda so ara nni ano aduru biara de, nanso nnuru ne ayaresa a etu mpɔn wɔ hɔ a ebetumi aboa ma wɔadi protein foforo a ɛwɔ mu no so, atew sɛnkyerɛnne ahorow so, na asiw tebea horow a emu yɛ den te sɛ komayare ano. Ɛntaa mma koraa sɛ sɛ yare no kɔ so a, ebia ɛho behia sɛ wɔde biribi te sɛ akwaa foforo a wɔde bɛma obi foforo.

Nea ɛho hia sen biara ne sɛ, sɛ wowɔ sɛnkyerɛnne anaa ɔhaw bi a ɛyɛ soronko a ɛfa wo koma ho a, mmu w’ani ngu so sɛ ‘ɛbae nkyɛe’ na hwehwɛ aduruyɛ mu afotu ntɛm ara. Efisɛ, te sɛ yare biara no, dodow a wohu eyi ntɛm no, dodow no ara na hokwan a ɛwɔ hɔ sɛ wobefi ayaresa ase, atew nsɛnnennen so, na wɔatra ase sɛnea ɛsɛ.

` Transthyretin amyloidosis, ATTR-CM, komayare, amyloidosis, komayare, protein a ɛba, awosu mu nyarewa