Ake sifunde nge-Transthyretin Amyloidosis (ATTR-CM), ethinta inhliziyo yakho buthule.

Ingabe ngezinye izikhathi uzizwa sengathi kukhona into engajwayelekile noma ehlukile ngenhliziyo yakho? Kungase kungabi yinto enkulu, kodwa kungaba yinkinga encane uma kungatholakali kahle. Namuhla sizokhuluma ngesimo senhliziyo esiyinkimbinkimbi kancane, kodwa kufanelekile ukuthi wonke umuntu asiqaphele. Leyo yi-transthyretin amyloidosis, noma njengoba odokotela beyibiza kanjalo, `(ATTR-CM)`.

Kuyini i-transthyretin amyloidosis (ATTR-CM)?

Kalula nje, `(ATTR-CM)` yisimo esithinta inhliziyo, esihlobene nephrotheni emizimbeni yethu. Ake sichaze lokhu kakhudlwana, akunjalo?

Kuyini i-transthyretin (TTR)?

I-Transthyretin, noma `(TTR)`, iyiprotheni ekhethekile etholakala egazini lethu, ekhiqizwa kakhulu yisibindi sethu. Isebenza njengesevisi yokuthumela izimpahla emzimbeni wethu. Yile phrotheni `(TTR)` ethwala i-vitamin A (eyaziwa nangokuthi i-retinol) kanye ne-hormone thyroxine, ekhiqizwa yi-thyroid gland, iye ezingxenyeni ezahlukene zomzimba, lapho kudingeka khona.

Kuyini i-Amyloidosis?

I-Amyloidosis ukuqongelela kwamaprotheni akhiwe ngendlela engavamile ezithweni ezahlukahlukene zomzimba wethu. Cabanga ngayo njengenqwaba yezinto ezingenamsebenzi endlini yethu. Uma amaprotheni efakwa ngale ndlela enhliziyweni, siyibiza ngokuthi i-cardiac amyloidosis.

Lawa maprotheni angajwayelekile, njengamabhola amancane entambo, akha izakhiwo ezinemicu ezibizwa ngokuthi 'ama-fibrils' . Lawa 'ma-fibrils' aphelela enhliziyweni, ikakhulukazi e-ventricle yesobunxele, igumbi eliyinhloko elipompa igazi liye emzimbeni wonke. Lokhu kubangela ukuthi inhliziyo iqine kancane kancane. Esikhundleni sokuba ibhola lerabha elithambile, iba njengebhola eliqinile nelinamatshe. Lokhu kwenza kube nzima ngenhliziyo ukuthi ifinyele kahle futhi ipompe igazi.

Kuyini i-Cardiomyopathy (CM)?

Uma inhliziyo iba lukhuni futhi iqine, imisipha yenhliziyo iba nesifo. Lokhu yilokho esikubiza ngokwezokwelapha ngokuthi i-cardiomyopathy (CM). Kalula nje, imisipha yenhliziyo iba buthakathaka. Lokhu kubangela ukuthi inhliziyo ingakwazi ukupompa igazi elanele emzimbeni. Lokhu kuvame ukuholela esimweni esibi esibizwa ngokuthi ukwehluleka kwenhliziyo.

Khumbula, ngaphezu kwalesi simo esibizwa ngokuthi `(ATTR-CM)`, kukhona nohlobo lwe-amyloidosis olubangelwa enye iphrotheni ebizwa ngokuthi `(light chain)`. Ibizwa ngokuthi `(AL) amyloidosis`. Yisifo esihlukile kune-`(ATTR-CM)` esikhuluma ngaso namuhla.

Lesi simo (i-ATTR-CM) saziwa nangamanye amagama amaningana. Isibonelo, ungase uzwe kuthiwa yi-cardiac amyloidosis, i-amyloidosis i-ATTR, noma i-transthyretin cardiac amyloidosis evela kodokotela noma kwenye indawo.

Yiziphi izinhlobo eziyinhloko ze-`(ATTR-CM)`?

Kunezinhlobo ezimbili eziyinhloko zalesi sifo "(ATTR-CM)".

1.I-ATTR-CM Yomndeni/Eyifa:

Lolu uhlobo olulodwa. Kalula nje, ludluliselwa kusuka esizukulwaneni kuya kwesinye . Lolu hlobo lubangelwa ushintsho ezakhini zethu zofuzo, ukuguquka kwezakhi zofuzo. Lokhu sikubiza ngokuthi i-ATTR-CM yomndeni noma yefa. Kulesi simo, iphrotheni engavamile ingafakwa hhayi enhliziyweni kuphela, kodwa nasesimisweni sezinzwa futhi ngezinye izikhathi ezinso. Kunezinhlobo ezahlukene zokuguquka kwezakhi zofuzo ezithinta lokhu phakathi kwamaqembu ezinhlanga ezahlukene emhlabeni.

2. I-ATTR-CM yohlobo lwasendle:

Olunye uhlobo yi-ATTR-CM yasendle. Akukho mbangela ethile yezakhi zofuzo etholakele yalokhu. Kwenzeka ngokuzenzakalelayo, ngaphandle kwembangela ecacile. Lolu hlobo luthinta kakhulu inhliziyo kanye nesistimu yezinzwa.

Sivame kangakanani lesi sifo `(ATTR-CM)`?

Uma sikhuluma iqiniso, ngisho nochwepheshe bezokwelapha abakwazi ukusho ngqo ukuthi bangaki abantu abanalesi sifo '(ATTR-CM)'. Kodwa-ke, kukholelwa ukuthi lesi sifo singase sivame kakhulu emphakathini kunalokho okucatshangwayo njengamanje . Ezimweni eziningi, lesi sifo asihlolwa kahle, okungukuthi, '(asihlolwanga kahle)'.

Ukwehluka kwezakhi zofuzo kungathinta amaqembu athile ezinhlanga kakhulu kunamanye. Isibonelo, lokhu kuguquka kwezakhi zofuzo kubonakala kakhulu kubantu abamnyama e-United States. Kodwa-ke, into ebalulekile ukuthi akuwona wonke umuntu onalokhu kuguquka ozoqala lesi sifo.

Yiziphi izimbangela ze-`(ATTR-CM)`?

Imbangela eyinhloko ye-ATTR-CM yomndeni yisici, noma ushintsho, ku-gene eyenza iphrotheni i-TTR esikhulume ngayo ngaphambili. Akuvamile kakhulu, umuntu angathuthukisa lolu shintsho lwe-gene okokuqala ngaphandle kokuba noma ubani emndenini abe nalesi simo ngaphambili. Lokhu kubizwa ngokuthi i-de novo mutation.

Odokotela abakakazi kahle ukuthi yini ebangela i-ATTR-CM yohlobo lwe-wild-type. Kodwa-ke, ivame kakhulu kwabesilisa abangaphezu kweminyaka engu-65. Ngakho-ke, kucatshangwa ukuthi ukuguga, futhi ngezinga elithile, ubulili kungaba yizinto eziyingozi.

Kungakhathaliseki ukuthi imbangela iyini, okwenzekayo ekugcineni ukuthi imizimba yethu iqala ukukhiqiza amaprotheni angajwayelekile, angajwayelekile `(TTR)`. Lawa maprotheni angajwayelekile aphuka kalula, ahlangane, futhi `agoqeke'. Yile ndlela agoqeka ngayo, akha amaqoqo amancane abizwa ngokuthi `ama-amyloid fibrils`. Lawa ahamba emzimbeni wonke ngegazi futhi ahlala ezithweni ezahlukahlukene, njengenhliziyo nemizwa. Ngokuhamba kwesikhathi, lawa malungu aqala ukulimala.

Ziyini izimpawu zesifo `(ATTR-CM)`?

Izimpawu zalesi sifo `(ATTR-CM)` zingahluka kakhulu kumuntu nomuntu. Futhi, izimpawu ziyahlukahluka kuye ngohlobo lwesifo.

• Abanye abantu abane-ATTR-CM yohlobo lwe-wild-type bangase bangabi nazimpawu.Uma kuvela izimpawu, zivame ukuqala ukuvela ngemva kweminyaka engu-65.
• Izimpawu zomndeni ze-ATTR-CM zivame ukuvela okokuqala ngemva kweminyaka engu-50. Kodwa-ke, ngezinye izikhathi izimpawu zingaqala kusenesikhathi, ngawo-20, noma kamuva kakhulu, ngawo-80.

Ngokuvamile, lezi zimpawu ze-`(ATTR-CM)` zifana kakhulu nezimpawu ze-`(Heart Failure)`. Cabanga ngokuthi ngabe ubulokhu uzizwa lezi zinto muva nje:

• Ukuphelelwa umoya: Ukuzizwa uphelelwa umoya, ikakhulukazi uma ulele embhedeni, noma ngisho nokwenza umsebenzi omncane womzimba, njengokuhamba ibanga elifushane.
• Ukuzizwa ugcwele futhi ukhukhumele .
• Udidekile , unenkinga yokucabanga kahle.
• Ukukhwehlela, ukuzizwa njengoklebe (ikakhulukazi uma ulele phansi).
• Ukuvuvukala kwemilenze, amaqakala, nezinyawo (i-edema) (njengokungathi zigcwele amanzi).
• I-Arrhythmia ukushaya kwenhliziyo okungajwayelekile, ngezinye izikhathi okubizwa ngokuthi ukushaya kwenhliziyo okusheshayo, ikakhulukazi isimo esibizwa ngokuthi i-atrial fibrillation.
• Ukushaya kwenhliziyo kuwumuzwa wenhliziyo ishaya ngokushesha okukhulu, okusho ukuthi kuzwakala sengathi inhliziyo iyashaya/iyashaya .
• Ukukhathala ukuzizwa ukhathele futhi ukhathele ngaso sonke isikhathi ngaphandle kwesizathu .
• Ukuzizwa unesiyezi, noma sengathi uzoquleka .

Yiziphi izinkinga ezingaba khona ze-`(ATTR-CM)`?

I-Transthyretin amyloidosis (ATTR-CM) ingabangela ukuphazamiseka kwesigqi senhliziyo, ikakhulukazi ukwehluleka kwenhliziyo kanye ne-atrial fibrillation (Afib).

Ngaphezu kwalokho, uma lawa ma-amyloid deposits eqoqana ohlelweni lwezinzwa, izinkinga ezilandelayo zingavela:

• I-Carpal tunnel syndrome: Lesi yisimo lapho inzwa esihlakaleni icindezelwa khona. Ngokuvamile, iminwe ezandleni zombili iba ndikindiki futhi ibe buhlungu, futhi ngezinye izikhathi ubuhlungu bukuvusa ebusuku.
• Ukubona amabala amnyama entanta phambi kwamehlo (ama-eye floaters).
• I-peripheral neuropathy: Lokhu kuwukulimala kwemizwa emilenzeni. Lokhu kungabangela ukungazweli, ukuqaqamba, ubuhlungu, futhi mhlawumbe nokulahlekelwa umuzwa emilenzeni.

Lezi zinsalela ngezinye izikhathi zinganqwabelana emgogodleni, okubangela ukuqaqamba komgogodla. Zinganqwabelana nasezicutshini ezahlukahlukene zomzimba, okuholela ezimweni ezinjengokuqhekeka kwemisipha.

Enye into ebalulekile ukuthi i-amyloidosis ngezinye izikhathi ihambisana nesimo esibizwa ngokuthi i-aortic stenosis. Lokhu kuwukuncishiswa kwevalvu ye-aortic ethwala igazi liphuma ekamelweni eliyinhloko lenhliziyo. Uma udokotela wakho ekutholile ukuthi une-aortic stenosis, udokotela wakho angase futhi akuhlolele i-amyloidosis.Lokhu kubaluleke kakhulu uma unezinye izimpawu, njengokushaya kwenhliziyo okungajwayelekile kanye ne-carpal tunnel syndrome.

Sitholakala kanjani isifo `(ATTR-CM)`?

Eqinisweni, ukuxilonga lesi sifo esithi "ATTR-CM" ngezinye izikhathi kungaba nzima kancane. Ngoba, isibonelo, uhlobo oluzuzwe njengefa lungabonisa izimpawu ezifana nesifo senhliziyo esibangelwa umfutho wegazi ophakeme. Ngakho-ke, abanye abantu bangase bathole ngisho "ukuxilongwa okungalungile" ekuqaleni.

Ngakolunye uhlangothi, uhlobo lwe-wild-type alubonisi njalo izimpawu ezisobala. Ngakho-ke, lesi sifo singase singatholakali kuze kube yilapho kuvela inkinga enkulu njengokwehluleka kwenhliziyo.

Kunezinhlobo eziningana zokuhlolwa okuyinhloko odokotela abazisebenzisayo ukuxilonga lesi sifo:

• Ukuhlolwa kwe-ECG (i-Electrocardiogram): Lokhu kuhlola ukusebenza kukagesi kwenhliziyo.
• Ukuhlolwa kwesithombe senhliziyo: I-Echocardiogram (lokhu kubheka ukuma nokusebenza kwenhliziyo), i-MRI scan, i-PET scan, njll.
• Ukuskena kwamathambo / I-Bone scintigraphy: Lokhu kungahlola ukubekwa kwe-amyloid emzimbeni.
• Ukuhlolwa kwenhliziyo: Lokhu kuhilela ukuthatha ingxenye encane kakhulu yezicubu enhliziyweni bese uyihlola ngaphansi kwe-microscope ukuze kubonakale ukuthi ikhona yini i-amyloid deposits.
• Ukuhlolwa kwegazi: Lokhu kungathola izinguquko noma izinguquko ku-gene `(TTR)`.

Yiziphi izindlela zokwelapha `(ATTR-CM)`?

Lona umbuzo obaluleke kakhulu kubantu abaningi. Uma sikhuluma iqiniso, alikho ikhambi eliphelele le-ATTR-CM okwamanje. Futhi, ayikho indlela eqinisekile yokususa imicu ye-amyloid esevele ifakiwe emzimbeni.

Kodwa, ungesabi! Manje sekukhona imithi enganciphisa ukunqwabelana kwala maprotheni amasha ayingozi futhi inciphise ukuqhubeka kwesifo. Lokhu kuyimpumuzo enkulu.

Ngaphezu kwalokho, kunikezwa ukwelashwa okuhlukile ukulawula izimpawu ezibangelwa imiphumela emibi yalesi sifo, njengokwehluleka kwenhliziyo, ukungasebenzi kahle kwenhliziyo, kanye ne-neuropathy.

• Kunemithi ethile ethile enikezwa i-ATTR-CM yomndeni. Le mithi isebenza ngokubopha iphrotheni ye-TTR, ukuyiqinisa, nokuvimbela iphrotheni ukuthi ingasondeli kahle. Izibonelo zifaka phakathi i-Tafamidis (Vyndaqel®, Vyndamax®) kanye ne-Diflunisal (Dolobid®). I-Diflunisal empeleni iyi-NSAID (umuthi ongeyona i-steroidal wokulwa nokuvuvukala). Ngezinye izikhathi odokotela bayisebenzisa 'engekho ku-label', okusho ukuthi ayivunyelwe ngqo kulesi simo, kodwa ngoba ivunyelwe kwezinye izimo futhi ingaba wusizo oluthile kulesi simo.
• Kuneminye imithi, njenge-Inotersen (Tegsedi®) kanye ne-Patisiran (Onpattro®), esebenza ngokunciphisa ukukhiqizwa kwesibindi kwala maprotheni e-amyloid anephutha.

Akuvamile kakhulu, uma kwenzeka isifo sibhebhetheka, okulandelayo kungadingeka:

• Ukufakelwa isibindi.
• Ukufakelwa izinso.
• Idivayisi yokusiza inhliziyo nge-ventricular yesobunxele (LVAD) (umshini omncane osiza inhliziyo ukupompa igazi) ilungile, noma njengesixazululo sokugcina, ukufakelwa inhliziyo.

Ingabe lesi sifo `(ATTR-CM)` singavinjelwa?

Uma une-gene mutation `(TTR)` ebangela i-familial `(Familial) ATTR-CM`, izingane zakho zinethuba elingu-50% lokuthola i-gene mutation. Lokho kusho ukuthi, hhayi zonke izingane, kodwa ithuba elilodwa kwababili lokuba nomntwana. Kodwa-ke, into ebalulekile okufanele uyikhumbule ukuthi akuzona zonke izingane ezithola i-gene mutation `(ATTR-CM)`.

Uma unesici esiyingozi sezakhi zofuzo esinjengalesi, kungumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo uma uhlela ukuba nezingane. Ungafunda ngezinketho ezifana nokuxilongwa kwezakhi zofuzo ngaphambi kokutshalwa kwembewu (i-PGD). Ngale ndlela, ama-embryo adalwe ngokukhulelwa kwe-in vitro (IVF) ahlolwa ukuthi akhona yini i-gene enesici ngaphambi kokuba atshalwe esibelethweni. Ama-embryo anempilo angenasici angakhethwa futhi atshalwe esibelethweni ukuze azame ukunciphisa ingozi yokuthi ingane izuze lesi simo sezakhi zofuzo.

Ayini amathuba esikhathi esizayo ezigulini ze-`(ATTR-CM)`?

I-Transthyretin amyloidosis (ATTR-CM) yisifo esiqhubekayo esingagcina siholele ezinkingeni ezinkulu. Kodwa ungakhathazeki! Ngemithi emisha efana ne-Tafamidis, kanye nokwelashwa okusha okusezivivinyweni zemitholampilo njengamanje, isikhathi sokuphila kanye nekhwalithi yokuphila kuyathuthuka. Ucwaningo olulodwa lubonise ukuthi iziguli ezathola umuthi i-Tafamidis izinyanga ezingu-30 zanda ngo-13% ekusindeni.

Into ebaluleke kakhulu ukubona udokotela wenhliziyo njalo bese ulandela iseluleko sakhe ukuqinisekisa ukuthi uthola imithi efanele yenhliziyo yakho.

Kufanele ubonane nini nodokotela?

Uma unesinye noma ngaphezulu kwalezi zimpawu ezilandelayo, kubaluleke kakhulu ukubona udokotela ngokushesha okukhulu bese ucela iseluleko ngaphandle kokuzishaya indiva:

• Ukudideka okungazelelwe noma izinkinga zenkumbulo.
• Ukubona izinto ezinjengamabala amnyama entanta phambi kwamehlo kubizwa ngokuthi "ama-Eye floaters".
• Ukushaya kwenhliziyo okungajwayelekile noma umuzwa wokushaya kwenhliziyo okusheshayo (ukushaya kwenhliziyo okusheshayo).
• Ubunzima bokuphefumula.
• Ngaphandle kwesizathu esicacileUkuvuvukala kanye nokwanda kwesisindo.

Yimiphi imibuzo okufanele uyibuze udokotela wakho?

Uma kutholakale ukuthi unesifo (i-ATTR-CM), noma usola ukuthi unesifo, kuwumqondo omuhle ukubuza udokotela wakho imibuzo efana nale:

• Uhlobo luni lwe-Transthyretin Amyloidosis enginalo? (Ifa noma uhlobo lwasendle?)
• Yini ebangela lesi simo kimi?
• Ingabe nginokuguquka, noma iphutha, ku-gene `(TTR)`?
• Yikuphi ukwelashwa ongicebisa khona?
• Iyini imiphumela emibi yale mithi?
• Ingabe ngizodinga into efana nokufakelwa isitho esikhathini esizayo?
• Yiziphi izimpawu zezinkinga okufanele ngikhathazeke ngazo kakhulu?

Ezinye zezinto ezibaluleke kakhulu okudingeka sizikhumbule kule ndaba yilezi:

I-Transthyretin amyloidosis, noma i-"ATTR-CM"`, yisimo lapho iphrotheni ethi "Transthyretin"` igoqeka khona bese izibeka enhliziyweni njenge-"fibrils" encane. Lokhu kungabangela ukuthi amakamelo enhliziyo aqine futhi abe buthaka, okuholela esimweni esibizwa ngokuthi "i-Cardiomyopathy."

Abanye abantu bangase babe nalesi simo esihambisana nemindeni (i-Familial ATTR-CM). Lokhu kusho ukuthi kunethonya lofuzo. Kwabanye, lesi simo singakhula ngokuguga ngaphandle kwesizathu esibonakalayo (i-Wild-type ATTR-CM).

Nakuba kungekho ikhambi, kunemithi kanye nokwelashwa okusebenzayo okungasiza ekulawuleni ama-protein deposit amasha, ukunciphisa izimpawu, nokuvimbela izimo ezibucayi njengokuhlaselwa yinhliziyo. Akuvamile kakhulu, uma lesi sifo siqhubeka, into efana nokufakelwa isitho ingadingeka.

Into ebaluleke kakhulu ukuthi uma unezimpawu ezingavamile noma ukungakhululeki okuhlobene nenhliziyo yakho, ungakuzibi ngoba 'kusanda kwenzeka' futhi ufune iseluleko sezokwelapha ngokushesha. Ngoba, njenganoma yisiphi isifo, lapho lokhu kutholakala ngokushesha, amathuba okuqala ukwelashwa ayanda, ukunciphisa izinkinga, nokuphila impilo evamile.

I- Transthyretin amyloidosis, i-ATTR-CM, isifo senhliziyo, i-amyloidosis, ukwehluleka kwenhliziyo, ukufakwa kwamaprotheni, izifo ezizuzwe njengefa