Transthyretin Amyloidosis (ATTR-CM) chungchang i zir dawn a, chu chuan ngawi rengin i thinlung a nghawng a ni.

I thinlungah hian thil mak emaw, danglam emaw a awm niin i hria em? Thil lian tak a ni lo mai thei, mahse a hriat chian loh chuan harsatna tlem a awm thei. Vawiin hian heart condition pakhat, a buaithlak deuh a, mahse mi zawng zawng hriat hlawh tak a ni tih kan sawi dawn a ni. Chu chu transthyretin amyloidosis a ni a, doctor-te’n an tih angin `(ATTR-CM)` a ni.

Transthyretin amyloidosis (ATTR-CM) hi eng nge ni?

A awlsam zawngin `(ATTR-CM)` hi kan taksaa protein pakhat nena inzawm, thinlung tichhe thei dinhmun a ni. Hei hi tlem han sawifiah leh ila, kan ti ang em?

Transthyretin (TTR) hi eng nge ni?

Transthyretin, a nih loh leh `(TTR)` hi kan thisenah protein bik a awm a, a bik takin kan thin (liver) atanga siam a ni. Kan taksaah hian courier service angin hna a thawk a ni. He `(TTR)` protein hi a ni a, vitamin A (retinol tia hriat bawk) leh thyroid gland atanga siam hormone thyroxine te chu taksa peng hrang hrangah, an mamawhna hmunah a phur a ni.

Amyloidosis chu eng nge ni?

Amyloidosis chu kan taksa peng hrang hranga protein pianzia danglam tak tak awmkhawm hi a ni. Kan in chhunga thil tangkai lo awmkhawm ang maiin han ngaihtuah teh. Hetiang hian thinlungah protein a awm chuan cardiac amyloidosis kan ti thin.

Heng protein pangngai lo te hian thread ball te te ang bawkin fibrous structure `fibrils` an ti a . Heng `fibrils` te hi thinlungah a tawp a, a bik takin left ventricle, taksa pum puia thisen pump chhuahna main chamber-ah a tawp thin. Hei hian thinlung chu a ti thim zauh zauh a, a tikhauh bawk. Rubber ball nem tak ni lovin, ball khauh tak, lungpui ang mai a lo ni ta zawk a ni. Hei hian thinlung chu a contract tha a, thisen pump a harsat phah a ni.

Cardiomyopathy (CM) hi eng nge ni?

Thinlung a khauh a, a khauh chuan thinlung ruh chu a natna a lo awm ta a ni. Hei hi damdawi lam chuan cardiomyopathy (CM) kan tih chu a ni. A awlsam zawngin, thinlung ruh chu a chak lo ta hle mai. Hei hian thinlung hian taksaah thisen a pump tling thei lo a ni. Hei hian natna khirh tak, heart failure an tih chu a thlen fo thin.

Hetiang dinhmun `(ATTR-CM)` tih bakah hian protein dang `(light chain)` tih atanga lo chhuak amyloidosis chi khat a awm bawk tih hre reng ang che. Chu chu `(AL) amyloidosis` an ti a. Tuna kan sawi `(ATTR-CM)` nen hian natna danglam tak a ni.

He dinhmun (ATTR-CM) hi hming dang engemaw zatin an hre bawk. Entirnan, doctor emaw hmun dangah emaw cardiac amyloidosis, amyloidosis ATTR, emaw transthyretin cardiac amyloidosis tia sawi i hre mai thei.

`(ATTR-CM)` chi hrang hrangte chu engte nge ni?

He ``(ATTR-CM)`` natna hi chi hnih a awm a.

1. 1. A rilru a hah lutuk chuan a rilru a buai em em a.Chhungkaw/Rohlu ATTR-CM: 1.1.

Hei hi chi khat a ni. A awlsam zawngin, thlah khat atanga thlah dangah a kal zel a ni . Hetiang chi hi kan genes inthlak danglamna, gene mutation avanga lo awm a ni. Hei hi chhungkaw emaw, thlahtute emaw ATTR-CM kan ti a. Hetiang dinhmunah hian protein pangngai lo chu thinlungah chauh ni lovin, nervous system-ah pawh a awm thei a, a chang chuan kal (kidney)-ah pawh a awm thei bawk. Khawvela hnam hrang hrang zingah hetiang nghawng thei gene mutation hrang hrang a awm a.

2. Ramsa chi hrang hrang ATTR-CM:

A chi dang chu wild-type ATTR-CM a ni. Hei hi genetic cause bik hmuhchhuah a la ni lo . Amah chauhin a thleng a, a chhan chiang tak a awm lo. Hetiang chi hian thinlung leh nervous system a nghawng ber bawk.

He `(ATTR-CM)` natna hi engtiang chiahin nge a hluar?

Dik tak chuan damdawi lam thiamte pawhin he `(ATTR-CM)` natna hi mi engzat nge vei tih chiang takin an sawi thei lo. Mahse, tuna ngaihtuah aiin he natna hi khawtlang nunah a hluar zawk mai thei niin an ngai . A tam zawkah chuan he natna hi a hriat chian loh vang a ni a, chu chu `(underdiagnosed)` a ni tihna a ni.

Genetic variant hian hnam thenkhat chu a dang aiin a nghawng nasa zawk thei a ni. Entirnan, he genetic mutation hi United States-ah hian mipa hring zingah hmuh tur a tam zawk. Mahse, a pawimawh ber chu mutation nei zawng zawng hian natna hi an nei vek dawn lo tih hi a ni.

`(ATTR-CM)` awm chhante chu engte nge ni?

Chhungkaw ATTR-CM awm chhan ber chu kan sawi tawh ang khan protein TTR siamtu gene a chhiat vang emaw, a inthlak danglam vang emaw a ni. A tlem hle a, mi tu emaw chuan a vawi khat nan he gene change hi a nei thei a, chhungkuaah hian he natna hi an lo nei tawh lo. Hei hi de novo mutation an ti a.

Doctor-te chuan wild-type ATTR-CM hi eng nge a thlen tih chiang takin an la hre lo. Mahse, mipa kum 65 chunglam ah a tam ber a, chuvangin kum leh, eng emaw chen chu mipa leh hmeichhia hi risk factor a ni thei niin an ngai.

A chhan chu eng pawh ni se, a tawpah chuan thil thleng chu kan taksa hian `(TTR)` proteins pangngai lo, mumal lo tak tak a siam tan thin a ni. Heng protein pangngai lo te hi awlsam takin an chhe vek a, an inzawm khawm a, `misfold` an ni. Hei hi an fold dan a ni a, `amyloid fibrils` an tih clump te tak te an siam thin. Chungte chu thisen kaltlangin taksa pum puiah an kal kual a, taksa peng hrang hrang, thinlung leh nerve-ah te an awm a ni. Hun a kal zel a, heng taksa peng hrang hrangte hi a chhe tan ta a ni.

`(ATTR-CM)` natna lan chhuah dan chu engte nge ni?

He `(ATTR-CM)` natna lan chhuah dan hi mi hrang hrangah a inang lo thei hle. Tin, natna chi hrang hrang a zirin a lan chhuah dan pawh a inang lo.

• Wild-type ATTR-CM vei thenkhat chuan symptom an nei lo mai thei.Symptoms a lan tak tak chuan kum 65 hnuah a lang tan tlangpui.
• Chhungkaw ATTR-CM symptoms hi kum 50 hnuah a lang hmasa ber thin a, mahse, a chang chuan symptoms hi a hma deuhin, kum 20s atang emaw, a hnu deuh pawhin, kum 80s atang pawhin a intan thei thin.

Vawi tam tak chu heng `(ATTR-CM)` symptoms te hi `(Heart Failure)` symptoms nen hian a inang hle. Tun hnaiah heng thilte hi i hre ve em tih hi han ngaihtuah teh:

• Thâwk hahna: Thâwk harsa tih hriatna, a bîk takin khumah mut lai emaw, taksa tihchakna tenau tak tak, hla vak lo kal ang chite pawh ni se.
• A rilru a hahdam a, a pum a puar bawk .
• Confused , chiang taka ngaihtuah harsa.
• Khuh, hawk ang maia inhriatna (a bik takin mut lai).
• Ke , ke ruh leh ke hring (edema) (tui khat ang maiin).
• Arrhythmia hi heartbeat mumal lo, a then chuan fast heartbeat an ti a, a bik takin atrial fibrillation an tih hi a ni.
• Heart palpitations hi thinlung a thawk chak em em tih hriatna a ni a, chu chu thinlung a thumping/throbbing ang maia hriatna a ni .
• Chauhna chu chhan awm lovin hah leh chau reng reng a ni .
• Lung hah, emaw, i muhil dawn ang maia awm .

`(ATTR-CM)` avanga harsatna awm thei te chu engte nge ni?

Transthyretin amyloidosis (ATTR-CM) hian heart rhythm disorder a thlen thei a, a bik takin heart failure leh atrial fibrillation (Afib) a thlen thei a ni.

Tin, heng amyloid deposit te hi nervous system-ah a awm khawm chuan a hnuaia harsatna te hi a awm thei bawk:

• Carpal tunnel syndrome: Hei hi kutphah chhunga nerve pakhat a compressed thinna a ni. Vawi tam tak chu kut pahnih kut zungtangte chu a hrual a, a na a, a chang chuan a na chuan zanah a tiharh che a ni.
• Mit hmaa hmun dum (eye floaters) lo inhnim hrual hmuh.
• Peripheral neuropathy: Hei hi ke ruh chhunga nerve tihchhiatna a ni. Hei hian taksa peng hrang hrangte chu a ti hlim thei a, a ti na thei a, a ti na thei a, ke ruhte pawh a ti na thei bawk.

Heng deposit te hi a chang chuan ruhroah a awm khawm thei a, chu chuan ruhro (spinal stenosis) a thlen thei a ni. Taksa tissue hrang hrangah an pungkhawm thei bawk a, chu chuan tendon rupture ang chi dinhmun a thlen thei bawk.

Thil pawimawh dang chu amyloidosis hi a chang chuan aortic stenosis an tih natna nen a inzawm fo thin. Hei hi thinlung main chamber atanga thisen phur chhuaktu aortic valve tihtlem a ni. I doctor-in aortic stenosis a neih thu a hriat chuan i doctor chuan amyloidosis a test thei bawk.Hei hi symptom dang i neih chuan a pawimawh hle a, chu chu heartbeat mumal lo leh carpal tunnel syndrome te hi a ni.

Engtin nge `(ATTR-CM)` natna hi hriat chhuah a nih?

Dik tak chuan he ``ATTR-CM`` natna hi hriatchhuah hi a chang chuan a harsa deuh thei. A chhan chu, entirnan, hereditary type hian thisen sang avanga thinlung natna ang chi symptoms a lantir thei a ni. Chuvangin mi thenkhat chuan a tir lamah ``diagnosis dik lo`` pawh an dawng thei.

A lehlamah chuan wild-type variant hian symptom chiang tak a lantir ngai lo. Chuvangin, harsatna lian tham, lungphu chawl ang chi a lo awm hma chuan natna hi hriatchhuah theih a ni lo mai thei.

Doctor-te’n natna an hriat theihna tura an hman thin test lian tak tak engemaw zat a awm a:

• ECG (Electrocardiogram) test: Hei hian thinlung electrical activity a enfiah thin.
• Heart imaging test: Echocardiogram (hei hian thinlung pianzia leh hnathawh dan a en), MRI scan, PET scan, etc.
• Bone scan / Bone scintigraphy: Hei hian taksaa amyloid awm leh awm loh a enfiah thei.
• Heart biopsy: Hei hian thinlung atanga tissue te tak te tak tak lak a, microscope hmanga enfiah a, amyloid deposit a awm leh awm loh enfiah a ni.
• Thisen test: Hengte hian `(TTR)` gene-a inthlak danglamna emaw, inthlak danglamna emaw a hmuchhuak thei.

`(ATTR-CM)` enkawlna tur engte nge ni?

Hei hi mi tam tak tan chuan zawhna pawimawh ber a ni. Dik tak chuan ATTR-CM hi damdawi kimchang a la awm lo . Tin, taksaa amyloid fiber awm tawhte chu paih chhuah dan tur chiang tak a awm lo bawk.

Mahse, hlau suh! Tunah chuan heng protein tha lo thar lo awm tur tihtlem thei leh natna zual zel tur tikhawtlai thei damdawi a awm ta. Hei hi thlamuanna ropui tak a ni.

Tin, he natna hian a nghawng tha lo, heart failure, arrhythmias, leh neuropathy te ang chi symptoms te control nan enkawlna hrang hrang pek a ni bawk.

• Chhungkaw ATTR-CM atana damdawi bik thenkhat pek thin a awm. Hengte hian TTR protein nen an inzawm a, a stabilize a, protein chu a misfolding loh nan an thawk a ni. Entirnan, Tafamidis (Vyndaqel®, Vyndamax®) leh Diflunisal (Dolobid®) te hi a ni. Diflunisal hi a takah chuan NSAID (non-steroidal anti-inflammatory drug) a ni. A châng chuan doctor-te chuan ‘off-label’ an hmang ṭhin a, chu chu he natna atan hian a bik taka pawm a ni lo tihna a ni a, mahse, natna dang atana pawm a nih vang leh he natna tan hian hlawkna engemaw chen a neih theih vang a ni.
• Damdawi dang pawh a awm a, chungte chu Inotersen (Tegsedi®) leh Patisiran (Onpattro®) te an ni a, hengte hian heng amyloid protein dik lote hi liver-in a siam chhuah tihtlem nan hna a thawk a ni.

A tlem hle a, natna a zual zel chuan a hnuaia mite hi a ngai mai thei:

• A liver transplant a ni.
• Kidney transplant a ni.
• Left ventricular assist device (LVAD) (heart thisen pump puitu machine te tak te) hi a OK a, a tawp berah chuan heart transplant pawh a OK.

Natna `(ATTR-CM)` hi ven theih a ni em?

Chhungkaw `(Chhungkaw) ATTR-CM` thlentu gene mutation `(TTR)` i neih chuan i fate hian gene mutation hi an rochun theihna chance 50% an nei a ni . Chu chu naupang zawng zawng ni lovin, fa neih theihna chance pahnih zinga pakhat tihna a ni. Mahse, hriat reng tur pawimawh tak chu he gene mutation rochun naupang zawng zawng hian `(ATTR-CM)` an nei vek dawn lo tih hi a ni.

Hetiang genetic risk factor i neih chuan fa neih i tum dawnin genetic counselor nena inbiakna neih a tha. Chumi hnuah chuan preimplantation genetic diagnosis (PGD) ang chi option hrang hrang i zir thei ang. Hetiang hmang hian in vitro fertilization (IVF) hmanga siam embryo te chu nausen pum chhunga an dah hmain gene chhia an awm leh awm loh an enfiah thin. Chumi hnuah chuan nausen hrisel, chhiatna nei lote chu thlan chhuah theih a ni a, nausen pum chhungah dah theih a ni a, chu chuan naupangin a genetic condition a rochun theihna tur a tihziaawm theih nan a bei thei a ni.

`(ATTR-CM)` damlote hmalam hun tur chu eng nge ni?

Transthyretin amyloidosis (ATTR-CM) hi natna zual zel a ni a, a tawpah chuan harsatna lian tham tak a thlen thei a ni. Mahse, lungngai suh! Tafamidis ang damdawi thar te, tuna clinical trial neih mek enkawlna thar te nen hian dam rei zawng leh nunphung a tha chho zel a ni. Zirchianna pakhatah chuan thla 30 chhung damdawi Tafamidis dawngtu damlote chu 13% zetin an dam rei tih hmuhchhuah a ni.

A pawimawh ber chu cardiologist pan fo a, an thurawn zawm a, i thinlung atana damdawi dik tak i dawng tih chian a ni.

Engtikah nge Doctor i hmuh ang?

A hnuaia chhinchhiahna pakhat emaw a aia tam emaw i neih chuan a rang thei ang bera doctor pan a, ngaihthah lova thurawn lak a pawimawh hle.

• Sudden confusion emaw hriatrengna lama harsatna emaw.
• Mit hmaa thil dum (black spot) lo inphah ang chi thil hmuh hi ``Eye floaters'' an ti.
• Lungphun mumal lo emaw, thinlung thawk chak (heart palpitations) emaw tih hriatna.
• Thâwk harsa.
• Chhan hriat lohvinEdema leh taksa rihna tihpun.

I doctor hnenah eng zawhna nge i zawh tur?

(ATTR-CM) i vei tih hmuhchhuah i nih chuan, emaw, i vei nia rinhlelh i nih chuan, i doctor hnenah hetiang zawhna hi zawh a tha ang:

• Eng chi Transthyretin Amyloidosis nge ka neih? (Hereditary nge ramsa chi khat?)
• Eng thilin nge ka tan he dinhmun hi a thlen?
• `(TTR)` gene-ah hian mutation, a nih loh leh defect ka nei em?
• Eng enkawlna nge min rawn rawt?
• Heng damdawi te hian eng side effect nge a neih?
• Nakin lawkah organ transplant ang chi hi ka mamawh dawn em?
• Eng harsatna chhinchhiahna nge ka ngaihtuah bik tur?

He thawnthu atanga kan hriat reng tur pawimawh tak tak thenkhat chu

Transthyretin amyloidosis, a nih loh leh ``ATTR-CM`` hi protein ``Transthyretin`` chu a inzawm sual a, thinlungah ``fibril te tak te'' angin a insiam a, hei hian thinlung chamber te a ti thim a, a tichak lo thei a, chu chuan ``cardiomyopathy`` a thlen thei a ni.

Mi thenkhat chuan chhungkaw hrang hranga kal thin he natna hi an nei thei (Familial ATTR-CM). Hei hian genetic influence a awm tihna a ni. Midang tan chuan chhan hriat lohvin kum upat rualin he natna hi a lo awm thei bawk (Wild-type ATTR-CM).

Damdawi la awm lo mah se, damdawi leh enkawlna tha tak tak a awm a, chu chuan protein thar awm zat control thei tur, symptoms tihziaawmna tur leh heart attack ang chi natna khirh tak takte venna kawngah a pui thei a ni. A tlem hle a, natna a zual zel chuan taksa peng dang thlak (organ transplant) ang chi thil a ngai mai thei.

A pawimawh ber chu i thinlung nena inzawm symptom danglam bik emaw, lungawi lohna emaw i neih chuan ‘a thleng chauh’ tia ngaihthah suh la, damdawi lam thurawn zawng nghal rawh. A chhan chu, natna dang ang bawkin, hei hi hmuhchhuah a nih hma chuan enkawlna tan theihna a sang a, harsatna a tlem phah a, nun pangngai a hmang thei bawk.

` Transthyretin amyloidosis, ATTR-CM, thinlung natna, amyloidosis, thinlung tha lo, protein deposition, thlahtu natna