E aʻo kākou e pili ana i ka Transthyretin Amyloidosis (ATTR-CM), ka mea e hoʻopilikia malū i kou puʻuwai.

Manaʻo paha ʻoe i kekahi manawa he mea ʻē a ʻokoʻa paha e pili ana i kou puʻuwai? ʻAʻole paha he mea nui, akā hiki ke lilo i mea pilikia inā ʻaʻole i ʻike pono ʻia. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi puʻuwai i paʻakikī iki, akā he mea kūpono ke ʻike ʻia e nā mea a pau. ʻO ia ka transthyretin amyloidosis, a i ʻole e like me ke kāhea ʻana o nā kauka, `(ATTR-CM)`.

He aha ka transthyretin amyloidosis (ATTR-CM)?

I ka ʻōlelo maʻalahi, ʻo `(ATTR-CM)` kahi maʻi e hoʻopilikia ai i ka puʻuwai, kahi e pili ana i kahi protein i loko o ko kākou kino. E wehewehe iki kākou i kēia, ʻeā?

He aha ka transthyretin (TTR)?

ʻO Transthyretin, a i ʻole `(TTR)`, he protein kūikawā i loaʻa i loko o ko kākou koko, i hana nui ʻia e ko kākou akepaʻa. Hana ia e like me ka lawelawe ʻelele i loko o ko kākou kino. ʻO kēia protein `(TTR)` e lawe ana i ka wikamina A (i ʻike ʻia hoʻi ʻo retinol) a me ka hormone thyroxine, i hana ʻia e ka thyroid gland, i nā ʻāpana like ʻole o ke kino, kahi e pono ai lākou.

He aha ka ʻAmyloidosis?

ʻO Amyloidosis ka hōʻiliʻili ʻana o nā protein ʻano ʻē i loko o nā ʻano like ʻole o ko mākou kino. E noʻonoʻo e like me kahi puʻu o nā mea pono ʻole i loko o ko mākou hale. Ke waiho ʻia nā protein ma kēia ʻano i loko o ka puʻuwai, kapa mākou ia he cardiac amyloidosis.

ʻO kēia mau protein ʻano ʻē, e like me nā pōpō liʻiliʻi o ke kaula, hana i nā ʻano fibrous i kapa ʻia ʻo 'fibrils' . Hoʻopau kēia mau 'fibrils' i ka puʻuwai, ʻoi aku hoʻi ma ka ventricle hema, ke keʻena nui e pamu i ke koko i ke kino holoʻokoʻa. ʻO kēia ke kumu e mānoanoa a paʻakikī ai ka puʻuwai. Ma kahi o ka lilo ʻana i pōpō laholio palupalu, lilo ia e like me ka pōpō paʻakikī a pōhaku. ʻO kēia ka mea e paʻakikī ai i ka puʻuwai ke ʻaelike pono a pamu i ke koko.

He aha ka Cardiomyopathy (CM)?

Ke paʻakikī a ʻoʻoleʻa ka puʻuwai, lilo ka ʻiʻo o ka puʻuwai i maʻi. ʻO kēia ka mea a mākou e kapa nei ma ke ʻano lapaʻau he cardiomyopathy (CM). I ka ʻōlelo maʻalahi, lilo ka ʻiʻo o ka puʻuwai i nāwaliwali. ʻO kēia ke kumu o ka hiki ʻole i ka puʻuwai ke pamu i ke koko lawa i ke kino. ʻO kēia ka mea e alakaʻi pinepine ai i kahi maʻi koʻikoʻi i kapa ʻia ʻo ka hāʻule ʻana o ka puʻuwai.

E hoʻomanaʻo, ma waho aʻe o kēia maʻi i kapa ʻia ʻo `(ATTR-CM)`, aia kekahi ʻano amyloidosis i hoʻokumu ʻia e kekahi protein ʻē aʻe i kapa ʻia ʻo `(light chain)`. Ua kapa ʻia ʻo `(AL) amyloidosis`. He maʻi ʻokoʻa ia mai ka `(ATTR-CM)` a mākou e kamaʻilio nei i kēia lā.

Ua ʻike ʻia kēia kūlana (ATTR-CM) ma kekahi mau inoa ʻē aʻe. Eia kekahi laʻana, lohe paha ʻoe iā ia i kapa ʻia ʻo cardiac amyloidosis, amyloidosis ATTR, a i ʻole transthyretin cardiac amyloidosis mai nā kauka a i ʻole ma kahi ʻē aʻe.

He aha nā ʻano nui o `(ATTR-CM)`?

ʻElua ʻano nui o kēia maʻi "(ATTR-CM)".

1.ʻOhana/Hoʻoilina ATTR-CM:

He ʻano hoʻokahi kēia. I ka ʻōlelo maʻalahi, ua hoʻoili ʻia mai kēlā hanauna a i kēia hanauna . Hoʻokumu ʻia kēia ʻano e kahi loli i loko o kā mākou mau genes, kahi mutation gene. Kāhea mākou i kēia ʻo familial a hereditary ATTR-CM. I kēia kūlana, hiki ke waiho ʻia ka protein maʻamau ʻole ʻaʻole wale i loko o ka puʻuwai, akā i loko o ka ʻōnaehana nerve a i kekahi manawa i loko o nā puʻupaʻa. Aia nā ʻano mutation gene like ʻole e hoʻopilikia i kēia ma waena o nā hui lāhui like ʻole o ka honua.

2. ʻAno hihiu ATTR-CM:

ʻO kekahi ʻano he ATTR-CM ʻano hihiu. ʻAʻohe kumu genetic kikoʻī i loaʻa no kēia. Hiki koke mai ia, me ke kumu ʻole. Hoʻopilikia nui kēia ʻano i ka puʻuwai a me ka ʻōnaehana nerve.

Pehea ka maʻamau o kēia maʻi `(ATTR-CM)`?

ʻO kaʻoiaʻiʻo, ʻaʻole hiki i nā loea lapaʻau ke ʻōlelo pololei i ka nui o ka poʻe i loaʻa i kēia maʻi `(ATTR-CM)`. Eia nō naʻe, ua manaʻoʻiʻo ʻia he ʻoi aku ka maʻamau o kēia maʻi i loko o ke kaiāulu ma mua o ka mea i manaʻo ʻia i kēia manawa . I nā hihia he nui, ʻaʻole i ʻike pono ʻia kēia maʻi, ʻo ia hoʻi, ua `(underdiagnosed)`.

Hiki i ke ʻano hoʻololi genetic ke hoʻopilikia i kekahi mau hui lāhui ma mua o nā poʻe ʻē aʻe. No ka laʻana, ʻike nui ʻia kēia mutation genetic i nā poʻe ʻeleʻele ma ʻAmelika Hui Pū ʻIa. Eia nō naʻe, ʻo ka mea nui , ʻaʻole e loaʻa i nā mea a pau i loaʻa i ka mutation ka maʻi.

He aha nā kumu o ka `(ATTR-CM)`?

ʻO ke kumu nui o ka familial ATTR-CM he kīnā, a i ʻole he loli, i loko o ka gene e hana ana i ka protein TTR a mākou i kamaʻilio ai ma mua. He mea kākaʻikahi loa, hiki i kekahi ke hoʻomohala i kēia loli gene no ka manawa mua me ka ʻole o kekahi o ka ʻohana i loaʻa i ke ʻano ma mua. Ua kapa ʻia kēia he de novo mutation.

ʻAʻole maopopo loa i nā kauka ke kumu o ka wild-type ATTR-CM. Eia nō naʻe, ʻoi aku ka maʻamau o ia ma nā kāne ma luna o 65 mau makahiki. No laila, ua manaʻo ʻia he mau mea pilikia ka ʻelemakule a, i kekahi ʻano, ke kāne.

ʻOiai ke kumu, ʻo ka mea e hana ʻia ma hope, ʻo ia ka hoʻomaka ʻana o ko mākou kino e hana i nā protein `(TTR)` ʻano ʻē a ʻano ʻē. E haki maʻalahi kēia mau protein ʻano ʻē, e hihia kekahi me kekahi, a `peke hewa`. Penei lākou e pelu ai, e hana ana i nā puʻupuʻu liʻiliʻi i kapa ʻia ʻo `amyloid fibrils`. Hele kēia mau mea ma ke kino holoʻokoʻa ma o ke koko a waiho ʻia i loko o nā ʻano kino like ʻole, e like me ka puʻuwai a me nā aʻalolo. I ka hala ʻana o ka manawa, hoʻomaka kēia mau ʻano kino e hōʻino ʻia.

He aha nā hōʻailona o ka maʻi `(ATTR-CM)`?

Hiki ke ʻokoʻa loa nā hōʻailona o kēia maʻi `(ATTR-CM)` mai kēlā kanaka a kēia kanaka. Eia kekahi, ʻokoʻa nā hōʻailona ma muli o ke ʻano o ka maʻi.

• ʻAʻole paha e loaʻa i kekahi poʻe me ka wild-type ATTR-CM kekahi mau hōʻailona.Inā ʻike ʻia nā hōʻailona, ​​​​hoʻomaka lākou e ʻike ʻia ma hope o 65 mau makahiki.
• ʻIke mua ʻia nā hōʻailona ʻohana ATTR-CM ma hope o ka piha ʻana o 50 makahiki. Eia nō naʻe, i kekahi manawa hiki ke hoʻomaka mua nā hōʻailona, ​​​​i nā makahiki 20, a i ʻole ma hope loa, i nā makahiki 80.

I ka manawa pinepine, ua like loa kēia mau hōʻailona `(ATTR-CM)` me nā hōʻailona o `(Heart Failure)`. E noʻonoʻo inā ua manaʻo ʻoe i kēia mau mea i kēia mau lā iho nei:

• Pōkole o ka hanu: Manaʻo i ka pōkole o ka hanu, ʻoiai i ka wā e moe ana ma kahi moe, a i ʻole me ka hana kino liʻiliʻi, e like me ka hele wāwae ʻana i kahi mamao pōkole.
• Manaʻo piha a pehu .
• Huikau , pilikia i ka noʻonoʻo pono.
• ʻŪhū, manaʻo e like me ka ʻio (ʻoi aku hoʻi i ka wā e moe ana).
• Ka pehu ʻana o nā wāwae, nā kuʻekuʻe wāwae, a me nā kapuaʻi (edema) (me he mea lā ua piha i ka wai).
• ʻO ka Arrhythmia kahi puʻuwai puʻuwai kūpono ʻole, i kekahi manawa i kapa ʻia ʻo ka puʻuwai wikiwiki, ʻoiai ke ʻano i kapa ʻia ʻo ka atrial fibrillation.
• ʻO ka palpitations o ka puʻuwai kahi manaʻo o ka puʻuwai e kuʻi wikiwiki loa ana, ʻo ia hoʻi, me he mea lā e kuʻi/ʻū ana ka puʻuwai .
• ʻO ka luhi ka manaʻo luhi a luhi hoʻi i nā manawa a pau me ke kumu ʻole .
• Ke poniuniu nei, a i ʻole e like me ʻoe e hiolo ana .

He aha nā pilikia e hiki mai ana o ka `(ATTR-CM)`?

Hiki i ka Transthyretin amyloidosis (ATTR-CM) ke hoʻoulu i nā maʻi o ka puʻuwai, ʻo ia hoʻi ka hāʻule ʻana o ka puʻuwai a me ka atrial fibrillation (Afib).

Eia kekahi, inā hōʻiliʻili kēia mau waihona amyloid i loko o ka ʻōnaehana nerve, hiki ke loaʻa nā pilikia penei:

• ʻO ka maʻi Carpal tunnel: He ʻano kēia kahi e ʻūlū ʻia ai ke aʻalolo ma ka pulima. I ka manawa pinepine, e mae a ʻeha nā manamana lima ma nā lima ʻelua, a i kekahi manawa e hoʻāla ka ʻeha iā ʻoe i ka pō.
• Ka ʻike ʻana i nā kiko ʻeleʻele e lana ana i mua o nā maka (eye floaters).
• ʻO ka neuropathy peripheral: He hōʻino kēia i nā aʻalolo i loko o nā lālā. Hiki i kēia ke hoʻoulu i ka mae ʻana, ke kani ʻana, ka ʻeha, a me ka nalowale paha o ka ʻike i loko o nā lālā.

Hiki i kēia mau waihona ke hōʻiliʻili i kekahi manawa i loko o ka iwi kuamoʻo, e hana ana i ka stenosis spinal. Hiki iā lākou ke hōʻiliʻili i loko o nā ʻiʻo like ʻole o ke kino, e alakaʻi ana i nā kūlana e like me ka haki ʻana o ke aʻalolo.

ʻO kekahi mea nui ʻē aʻe, ʻo ka amyloidosis i kekahi manawa e hele pū ʻia me kahi kūlana i kapa ʻia ʻo aortic stenosis. He ʻūmiʻi kēia o ka valve aortic e lawe ana i ke koko i waho o ke keʻena nui o ka puʻuwai. Inā ua ʻike kāu kauka iā ʻoe me ka aortic stenosis, hiki i kāu kauka ke hoʻāʻo iā ʻoe no ka amyloidosis.He mea nui loa kēia inā loaʻa iā ʻoe nā hōʻailona ʻē aʻe, e like me ka puʻuwai puʻuwai kūpono ʻole a me ka carpal tunnel syndrome.

Pehea e ʻike ʻia ai ka maʻi `(ATTR-CM)`?

ʻO kaʻoiaʻiʻo, hiki i kekahi manawa ke paʻakikī iki ka ʻike ʻana i kēia maʻi "ATTR-CM". No ka mea, no ka laʻana, hiki i ke ʻano hoʻoilina ke hōʻike i nā hōʻailona like me ka maʻi puʻuwai i hoʻokumu ʻia e ke koko kiʻekiʻe. No laila, hiki i kekahi poʻe ke loaʻa i kahi "ʻike hewa" i ka wā mua.

Ma ka ʻaoʻao ʻē aʻe, ʻaʻole hōʻike mau ka ʻano wild-type i nā hōʻailona maopopo. No laila, ʻaʻole paha e ʻike ʻia ka maʻi a hiki i ka wā e loaʻa ai kahi pilikia koʻikoʻi e like me ka hāʻule ʻana o ka puʻuwai.

Aia kekahi mau hoʻokolohua nui a nā kauka e hoʻohana ai e ʻike i ka maʻi:

• Hoʻāʻo ECG (Electrocardiogram): Nānā kēia i ka hana uila o ka puʻuwai.
• Nā hoʻāʻo kiʻi puʻuwai: Echocardiogram (nānā kēia i ke ʻano a me ka hana o ka puʻuwai), MRI scan, PET scan, a pēlā aku.
• ʻO ke scan iwi / Bone scintigraphy: Hiki i kēia ke nānā i nā waihona amyloid i loko o ke kino.
• ʻO ka biopsy puʻuwai: Pili kēia i ka lawe ʻana i kahi ʻāpana liʻiliʻi loa o ka ʻiʻo mai ka puʻuwai a nānā iā ia ma lalo o kahi microscope e ʻike inā loaʻa nā waihona amyloid.
• Nā hoʻāʻo koko: Hiki i kēia ke ʻike i nā loli a i ʻole nā ​​mutations i loko o ka gene `(TTR)`.

He aha nā lāʻau lapaʻau no ka `(ATTR-CM)`?

ʻO kēia ka nīnau koʻikoʻi loa no nā poʻe he nui. ʻO kaʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau piha no ATTR-CM. Eia kekahi, ʻaʻohe ala paʻa e wehe ai i nā olonā amyloid i waiho mua ʻia i loko o ke kino.

Akā, mai makaʻu! Aia nā lāʻau lapaʻau i kēia manawa e hiki ke hōʻemi i ka hōʻiliʻili ʻana o kēia mau protein ʻino hou a hoʻolohi i ka holomua o ka maʻi. He mea hōʻoluʻolu nui kēia.

Eia kekahi, hāʻawi ʻia nā lāʻau lapaʻau kaʻawale e kāohi i nā hōʻailona i hoʻokumu ʻia e nā hopena ʻaoʻao o kēia maʻi, e like me ka puʻuwai puʻuwai, nā arrhythmias, a me ka neuropathy.

• Aia kekahi mau lāʻau lapaʻau kikoʻī i hāʻawi ʻia no ka ʻohana ATTR-CM. Hana kēia mau mea ma ka hoʻopaʻa ʻana i ka protein TTR, hoʻopaʻa iā ia, a pale i ka protein mai ka pelu hewa ʻana. ʻO nā hiʻohiʻona e like me Tafamidis (Vyndaqel®, Vyndamax®) a me Diflunisal (Dolobid®). ʻO Diflunisal he NSAID (non-steroidal anti-inflammatory drug). I kekahi manawa hoʻohana nā kauka iā ia 'off-label', ʻo ia hoʻi, ʻaʻole i ʻae kūikawā ʻia no kēia kūlana, akā no ka mea ua ʻae ʻia no nā kūlana ʻē aʻe a he pono paha ia i kēia kūlana.
• Aia kekahi mau lāʻau ʻē aʻe, e like me Inotersen (Tegsedi®) a me Patisiran (Onpattro®), e hana ana ma ka hoʻolohi ʻana i ka hana ʻana o ke akepaʻa i kēia mau protein amyloid hewa.

ʻAʻole pinepine loa, i nā hihia o ka exacerbation o ka maʻi, pono paha kēia mau mea:

• He hoʻoili ʻana o ke ake.
• He hoʻoili puʻupaʻa.
• He mea maikaʻi kahi mea kōkua ventricular hema (LVAD) (kahi mīkini liʻiliʻi e kōkua i ka puʻuwai e pamu i ke koko), a i ʻole ma ke ʻano he koho hope loa, he hoʻoili puʻuwai.

Hiki ke pale ʻia ka maʻi `(ATTR-CM)`?

Inā loaʻa iā ʻoe ka mutation gene `(TTR)` e hoʻoulu ai i ka familial `(Familial) ATTR-CM`, loaʻa i kāu mau keiki he 50% ka manawa e hoʻoilina ai i ka mutation gene. ʻO ia hoʻi, ʻaʻole nā ​​keiki āpau, akā hoʻokahi i loko o ʻelua ka manawa e loaʻa ai kahi keiki. Eia naʻe, ʻo ka mea nui e hoʻomanaʻo ai, ʻaʻole nā ​​keiki āpau e hoʻoilina i kēia mutation gene e loaʻa iā `(ATTR-CM)`.

Inā loaʻa iā ʻoe kahi kumu pilikia genetic e like me kēia, he manaʻo maikaʻi ke kamaʻilio me kahi kākāʻōlelo genetic ke hoʻolālā ʻoe e loaʻa nā keiki. A laila hiki iā ʻoe ke aʻo e pili ana i nā koho e like me ka preimplantation genetic diagnosis (PGD). Ma kēia ʻano hana, hoʻāʻo ʻia nā embryos i hana ʻia ma o ka in vitro fertilization (IVF) no ke alo o ka gene kīnā ma mua o ko lākou hoʻokomo ʻia ʻana i loko o ka uterus. A laila hiki ke koho ʻia nā embryos olakino me nā kīnā ʻole a hoʻokomo ʻia i loko o ka uterus e hoʻāʻo e hōʻemi i ka pilikia o ke keiki e hoʻoilina i ke kūlana genetic.

He aha nā manaʻolana e hiki mai ana no nā maʻi `(ATTR-CM)`?

ʻO ka Transthyretin amyloidosis (ATTR-CM) kahi maʻi holomua e hiki ai ke alakaʻi i nā pilikia koʻikoʻi. Akā, mai hopohopo! Me nā lāʻau lapaʻau hou e like me Tafamidis, a me nā lāʻau lapaʻau hou i kēia manawa i nā hoʻokolohua lapaʻau, ke hoʻomaikaʻi nei ka manaʻolana ola a me ke ʻano o ke ola. Ua hōʻike ʻia kekahi noiʻi ua loaʻa i nā maʻi i loaʻa ka lāʻau Tafamidis no 30 mau mahina he 13% ka piʻi ʻana o ke ola.

ʻO ka mea nui loa, ʻo ia ke ʻike pinepine ʻana i kahi kauka cardiologist a hahai i kā lākou ʻōlelo aʻo e hōʻoia i ka loaʻa ʻana o nā lāʻau lapaʻau kūpono no kou puʻuwai.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe kekahi a ʻoi aku paha o nā hōʻailona ma lalo nei, he mea nui loa e ʻike koke i ke kauka a ʻimi i ka ʻōlelo aʻo me ka nānā ʻole ʻana iā lākou:

• Ka huikau koke a i ʻole nā ​​pilikia hoʻomanaʻo.
• ʻO ka ʻike ʻana i nā mea e like me nā kiko ʻeleʻele e lana ana i mua o nā maka ua kapa ʻia ʻo "Eye floaters".
• Ka puʻuwai kūpono ʻole a i ʻole ka manaʻo o ka puʻuwai wikiwiki (palpitations puʻuwai).
• Paʻakikī ka hanu ʻana.
• No ke kumu ʻike ʻole ʻiaʻEdema a me ka piʻi ʻana o ke kaumaha.

He aha nā nīnau āu e nīnau ai i kāu kauka?

Inā ua ʻike ʻia ʻoe me (ATTR-CM), a i ʻole ke manaʻo nei ʻoe he loaʻa iā ʻoe, he mea maikaʻi ke nīnau i kāu kauka i nā nīnau e like me kēia:

• He aha ke ʻano o ka Transthyretin Amyloidosis i loaʻa iaʻu? (He ʻano hoʻoilina a he ʻano hihiu paha?)
• He aha ke kumu o kēia kūlana iaʻu?
• He mutation koʻu, a he kīnā paha, i loko o ka gene `(TTR)`?
• He aha nā lāʻau lapaʻau āu e manaʻo ai noʻu?
• He aha nā hopena ʻaoʻao o kēia mau lāʻau lapaʻau?
• E pono anei iaʻu kekahi mea e like me ka hoʻoili ʻana o ke kino i ka wā e hiki mai ana?
• He aha nā hōʻailona o nā pilikia e pono iaʻu e hopohopo nui?

ʻO kekahi o nā mea nui e pono ai kākou e hoʻomanaʻo mai kēia moʻolelo

ʻO ka Transthyretin amyloidosis, a i ʻole "ATTR-CM", he ʻano ia e pelu hewa ai ka protein "Transthyretin" a waiho iā ia iho i loko o ka puʻuwai me he mau "fibrils" liʻiliʻi lā. Hiki i kēia ke hoʻomānoanoa a hoʻonāwaliwali i nā keʻena o ka puʻuwai, e alakaʻi ana i ka "cardiomyopathy".

Loaʻa paha i kekahi poʻe kēia maʻi e holo ana i loko o nā ʻohana (Familial ATTR-CM). ʻO ke ʻano kēia he mana hoʻoilina. No kekahi poʻe, hiki ke ulu aʻe ke ʻano me ka ʻelemakule me ke kumu ʻole (Wild-type ATTR-CM).

ʻOiai ʻaʻohe lāʻau lapaʻau, aia nā lāʻau lapaʻau a me nā ʻano lapaʻau kūpono e hiki ke kōkua i ka kaohi ʻana i nā waihona protein hou, hōʻemi i nā hōʻailona, ​​a pale i nā kūlana koʻikoʻi e like me nā hōʻeha puʻuwai. He mea kākaʻikahi loa, inā holomua ka maʻi, pono paha kekahi mea e like me ka hoʻoili ʻana o nā kino.

ʻO ka mea nui loa, inā loaʻa iā ʻoe kekahi mau hōʻailona ʻē a i ʻole ka ʻoluʻolu ʻole e pili ana i kou puʻuwai, mai hoʻowahāwahā iā ia me he mea lā 'ua hana wale ʻia' a e ʻimi koke i ke kōkua lapaʻau. No ka mea, e like me nā maʻi āpau, ʻo ka wikiwiki o ka ʻike ʻia ʻana o kēia, ʻoi aku ka nui o ka manawa e hoʻomaka ai ka lāʻau lapaʻau, e hoʻēmi ana i nā pilikia, a e ola i ke ola maʻamau.

ʻO ka amyloidosis Transthyretin, ATTR-CM, maʻi puʻuwai, amyloidosis, hāʻule puʻuwai, waiho ʻana o ka protein, nā maʻi hoʻoilina