Uyini i-Familial Hypercholesterolemia? Izimpawu, Izimbangela, & Ukwelashwa

I-Familial hypercholesterolemia yisimo sezempilo esidluliselwa ngezakhiwo ezifihliwe esenza umzimba wakho ube namanqanaba aphezulu kakhulu e-cholesterol kusukela ekuzalweni. Ngokungafani nezingxaki ze-cholesterol ezithuthukiswa ngokudla noma indlela yokuphila, lesi simo sidluliselwa emindenini futhi sithinta indlela isibindi sakho esiphatha ngayo i-cholesterol.

Cishe umuntu omunye ku-250 uneli simo, nakuba abaningi abalwazi. Amanqanaba akho e-cholesterol angaba ngaphezulu kakhulu kane noma kane kunokujwayelekile, okukubeka engozini yesifo senhliziyo ebudeni obusemusha kunabantu abaningi.

Uyini i-Familial Hypercholesterolemia?

I-Familial hypercholesterolemia kwenzeka lapho uzuza izakhiwo ezingezinhle ezilawula ukusebenza kwe-cholesterol. Isibindi sakho asinakukwazi ukususa i-cholesterol ye-LDL (“i-cholesterol embi”) egazini lakho ngokuphumelelayo.

Cabanga ngakho njengesiphuzo esigcwele egazini lakho. Izibindi ezijwayelekile zine-“imiphetho” eyanele yokususa i-cholesterol, kodwa ngaleli simo, imiphetho eminingi ivaliwe. Lokhu kwenza i-cholesterol iqongeleke egazini lakho futhi ekugcineni emithanjeni yakho.

Kunezinhlobo ezimbili eziyinhloko. I-Heterozygous familial hypercholesterolemia kusho ukuthi uzuze i-gene enye engalungile komunye umzali. I-Homozygous familial hypercholesterolemia kusho ukuthi uzuze izakhiwo ezingezinhle kokubili kubazali, okwenza kube nzima kakhulu kodwa futhi kube yingxenye encane.

Ziyini izimpawu ze-Familial Hypercholesterolemia?

Abantu abaningi abane-familial hypercholesterolemia abazizwa begula noma baphawule izimpawu ezicacile. I-cholesterol ephezulu isebenza ngokuthula ngemuva, kungakho kuvame ukubizwa ngokuthi “isimo esithule.”

Kodwa-ke, ezinye izimpawu zomzimba zingabonakala ezingakunika izinkomba:

• Ama-bumps noma ama-patches aphuzi eduze kwamehlo akho (okubizwa ngokuthi i-xanthelasma)
• Ama-bumps aphuzi ezinzwini zakho, ama-elbows, noma ama-knees (i-tendon xanthomas)
• Ucingo oluphuzi oluphuzi oluzungezile ingxenye elimele amehlo akho (i-corneal arcus)
• Ubuhlungu esifubeni noma ukuphefumula okunzima ngesikhathi somsebenzi womzimba
• Izimpawu zokuqala zokuhlushwa yisifo senhliziyo noma isifo sobuchopho ezinhlwini zomndeni

Lezi zimpawu ezibonakalayo zivame kakhulu kubantu abanesimo esinzima saleli simo. Abantu abaningi bafumanisa nje ukuthi bane-familial hypercholesterolemia ngesikhathi sokuhlolwa kwegazi okujwayelekile noma ngemuva kokuthi ilungu lomndeni lihlolwe.

Ziyini izinhlobo ze-Familial Hypercholesterolemia?

Kunezinhlobo ezimbili eziyinhloko ngokusekelwe ekutheni uzithole kangaki izakhiwo ezingezinhle. Uhlobo olulokho oluthinta ukuthi amanqanaba akho e-cholesterol azobe nzima kangakanani futhi nini izinkinga zingase ziqale.

I-Heterozygous familial hypercholesterolemia yiyona ndlela evamile. Uzuza i-gene enye evamile ne-gene enye engalungile, ngakho isibindi sakho sisasebenza ngokulinganisela. I-cholesterol yakho iyonke ivame ukuba phakathi kuka-300-500 mg/dL, futhi izinkinga zenhliziyo zivame ukuqala ebudeni bakho bama-40 noma ama-50.

I-Homozygous familial hypercholesterolemia iyincani kakhulu kodwa inamandla kakhulu. Uzuza izakhiwo ezingezinhle kokubili kubazali, ngakho isibindi sakho sihlupheka kakhulu ngokususa i-cholesterol. I-cholesterol yakho ingafinyelela ku-600-1000 mg/dL noma ngaphezulu, futhi izinkinga zenhliziyo zingase ziqale ebuntwaneni noma ebudeni bokutsha.

Yini ebangela i-Familial Hypercholesterolemia?

I-Familial hypercholesterolemia ibangelwa ukuguqulwa kwezakhiwo ezisiza isibindi sakho ukuba sisuse i-cholesterol egazini lakho. I-gene evame kakhulu ehilelekile ibizwa ngokuthi i-LDLR, eyenza ama-receptors abamba i-cholesterol egazini lakho.

Lapho lezi zakhiwo zingasebenzi kahle, isibindi sakho asinakukwazi ukususa i-cholesterol ngokuphumelelayo. Kufana nokungabi nemiphetho eminingi ye-cholesterol ukuphuma egazini lakho, ngakho iqongeleka ngokuhamba kwesikhathi.

Lokhu kuyizakhiwo kuphela futhi akunandaba nokudla kwakho, imikhuba yokuzivocavoca, noma izinqumo zokuphila. Uzale uneli simo ngoba ulitholile komunye noma kokubili abazali. Uma komunye umzali enalo, umntwana ngamunye unethuba elingu-50% lokulithola futhi.

Nini okumele ubona udokotela nge-Familial Hypercholesterolemia?

Kufanele ubona udokotela uma unembali yomndeni ye-cholesterol ephezulu, ukuhlushwa yisifo senhliziyo ekuqaleni, noma isifo sobuchopho. Ukuhlolwa kubalulekile kakhulu uma umzali, umfowabo, noma umntwana ekhona ehlolwe nge-familial hypercholesterolemia.

Hlela i-aphoyintimenti uma uqaphela ama-bumps aphuzi eduze kwamehlo akho noma ezinzwini zakho. Lezi zimpawu zomzimba zivame ukukhombisa amanqanaba aphezulu kakhulu e-cholesterol adinga ukunakekelwa kwezokwelapha.

Ungalindi uma uhlushwa ubuhlungu esifubeni, ukuphefumula okunzima, noma ezinye izimpawu ezihlobene nenhliziyo. Ngisho noma uzizwa kahle, ukuhlolwa okujwayelekile kwe-cholesterol okuqala ebudeni bakho bama-20 kungabamba leli simo ekuqaleni lapho ukwelashwa kuphumelela kakhulu.

Ziyini izimbangela zengozi ze-Familial Hypercholesterolemia?

Imbangela enkulu yengozi ukuba nomzali onaleli simo. Njengoba kuyizakhiwo, awukwazi ukuthuthukisa leli simo ngaphandle kokuthola izakhiwo ezingezinhle emndenini wakho.

Ubungozi bakho buxhomeke esimweni somndeni wakho:

• Umzali oyedwa onaleli simo ukunika amathuba angu-50% okuba nalo
• Bobabili abazali abaneli simo kusho ukuthi uzoba nalo ngokuqinisekile
• Abafowabo noma abantwana babantu abahlushwe banethuba elikhulu
• Amaqembu athile ezizwe, njengeFrench Canadians ne-Afrikaners, anezinga eliphezulu
• Abantu abanezindaba zase-Ashkenazi Jewish bangaba nezinhlobo ezithile zezakhiwo

Ngokungafani nezinye izinkinga ze-cholesterol, ukudla kwakho, isisindo, noma imikhuba yokuzivocavoca ayibangeli i-familial hypercholesterolemia. Kodwa-ke, lezi zinto zokuphila zingathinta ukuthi amanqanaba akho e-cholesterol azobe nzima kangakanani nokuthi izinkinga ziqala nini.

Ziyini izinkinga ezingase zenzeke nge-Familial Hypercholesterolemia?

Ukukhathazeka okuyinhloko nge-familial hypercholesterolemia ukuthi kukhuphula kakhulu ubungozi besifo senhliziyo nesifo sobuchopho ebudeni obusemusha. Ngaphandle kokwelashwa, abantu abaneli simo bavame ukuthuthukisa izinkinga ze-cardiovascular amashumi eminyaka ngaphambi kwabantu abavamile.

Izinkinga ezivamile zihlanganisa:

• Isifo se-coronary artery (imithambo yegazi evaliwe enhliziyweni yakho)
• Ukuhlushwa yisifo senhliziyo, okuvamile ebudeni bama-40 noma ama-50
• Isifo sobuchopho esibangelwa imithambo yegazi evaliwe ebuchosheni bakho
• Isifo se-peripheral artery (imithambo yegazi evaliwe ezinyaweni zakho)
• Isifo se-aortic valve esibangelwa ukuqongeleka kwe-cholesterol

Izindaba ezinhle ukuthi ukuhlolwa ekuqaleni nokwelashwa kunganciphisa kakhulu lezi zingozini. Ngokuphathwa kahle, abantu abaningi abane-familial hypercholesterolemia baphila impilo evamile, enempilo ngaphandle kokubhekana nalezi zinkinga ezinkulu.

I-Familial Hypercholesterolemia ingavikeleka kanjani?

Njengoba i-familial hypercholesterolemia iyizakhiwo, awukwazi ukuvimbela ukuthola leli simo. Kodwa-ke, ungathatha izinyathelo zokuvimbela noma ukulibambezela izinkinga zakho uma usuvele uyazi ukuthi unalo.

Ukuhlolwa ekuqaleni yiyona ndlela yakho engcono kakhulu yokuvimbela. Uma unembali yomndeni, ukuhlolwa ebudeni bakho bama-20 kuvumela ukwelashwa ekuqaleni ngaphambi kokulimaza imithambo yegazi.

Nakuba ungakwazi ukushintsha izakhiwo zakho, izinqumo zokuphila ezempilo zingasiza ekulawuleni amanqanaba akho e-cholesterol. Ukuzivocavoca okujwayelekile, ukudla okunempilo, ukungabhemi, nokulondoloza isisindo esinempilo konke kuwasekela ukwelashwa kwakho futhi kunciphisa ubungozi be-cardiovascular.

I-Familial Hypercholesterolemia ihlolwa kanjani?

Ukuhlolwa kuqala ngokuhlolwa kwegazi okulula okuthiwa i-lipid panel elinganisa amanqanaba akho e-cholesterol. Udokotela wakho uzobheka i-cholesterol iyonke engaphezulu kuka-300 mg/dL noma i-cholesterol ye-LDL engaphezulu kuka-190 mg/dL, ikakhulukazi uma usencane futhi unempilo.

Udokotela wakho uzobuza nemibuzo eminingi ngembali yomndeni wakho. Uzothanda ukwazi uma abazali, abafowabo, noma abantwana babe ne-cholesterol ephezulu, ukuhlushwa yisifo senhliziyo ekuqaleni, noma isifo sobuchopho.

Ukuhlolwa kwezakhiwo kungaqinisekisa ukuhlolwa ngokubona ukuguqulwa kwezakhiwo ezithile. Lokhu kuhlolwa kuwusizo kakhulu ekubhekeni komndeni nasekucaciseni ukuthi yiluphi uhlobo olulokho. Abanye abantu bathola nemihlola ekhethekile yokuhlola ukuthi izibindi zabo ziphatha kanjani i-cholesterol.

Ukuphathwa kwe-Familial Hypercholesterolemia kuyini?

Ukuphathwa kugxile ekuthuthukiseni amanqanaba akho e-cholesterol ukuze kunciphisa ubungozi besifo senhliziyo nesifo sobuchopho. Umgomo ukufinyelela i-cholesterol ye-LDL ephansi ngangokunokwenzeka, ngokuvamile ngaphansi kuka-70 mg/dL.

Abantu abaningi badinga imithi yemithi ebizwa ngokuthi i-statins, esiza isibindi sakho ukuba sisebenze kahle. I-statins evamile ihlanganisa i-atorvastatin, i-rosuvastatin, ne-simvastatin. Udokotela wakho angase aqhubeke nomunye futhi alungise umthamo noma engeze eminye imithi uma kudingeka.

Ngezinye izimo ezinzima noma lapho i-statins inganele, ukwelashwa okwengeziwe kuhlanganisa:

• Ama-PCSK9 inhibitors (imithi yokugcoba enikezwa njalo emavikini angu-2-4)
• I-Ezetimibe (ivimba ukufunwa kwe-cholesterol ezibindini zakho)
• Ama-Bile acid sequestrants (asisiza ekuqedeni i-cholesterol emzimbeni wakho)
• I-LDL apheresis (inkqubo ehlanza i-cholesterol egazini lakho)

Abantu abane-homozygous familial hypercholesterolemia bangadinga ukwelashwa okunzima njenge-apheresis ejwayelekile noma ngisho nokuhlinzwa kwesibindi ezimweni ezingavamile. Okubalulekile ukusebenzisana eduze nodokotela wakho ukuthola ukuxuba okuphumelela kakhulu kuwe.

Ungayithatha kanjani ukwelashwa ekhaya ngesikhathi se-Familial Hypercholesterolemia?

Nakuba imithi iyisisekelo, ukushintsha indlela yokuphila kungasekele ukwelashwa kwakho futhi kukusize uzizwe kahle. Cabanga ngalezi njengezithuluzi ezisebenza kanye nemithi yakho, hhayi izikhombisi zazo.

Gxilisa ukudla okunempilo kwenhliziyo ngezithelo eziningi, imifino, ukudla okugcwele, namaprotheni ahlanzekile. Khawukhawuleli amafutha agcwele, amafutha e-trans, nokudla okunama-cholesterol aphezulu, kodwa khumbula ukuthi isimo sakho asibangelwa ukudla.

Ukuzivocavoca okujwayelekile kusiza ukuthi uhlelo lwakho lwe-cardiovascular luhlale luqinile. Hlose okungenani imizuzu engu-150 yokuzivocavoca okulinganiselwe masonto onke, njengokuhamba ngokushesha, ukubhukuda, noma ukujika ibhayisikili. Qala kancane futhi wakhe kancane kancane uma usanda kuqala ukuzivocavoca.

Thatha imithi yakho ngokuqondile njengoba ilotshwe, ngisho noma uzizwa kahle. Yenza uhlelo noma sebenzisa abahlanganisi be-pill ukuze ukukhumbule. Ungayeki ukuthatha imithi ngaphandle kokukhuluma nodokotela wakho kuqala, njengoba amanqanaba akho e-cholesterol angase akhuphuke futhi ngokushesha.

Kufanele uzilungiselele kanjani i-aphoyintimenti yakho yodokotela?

Bula imbali yakho yezokwelapha yomndeni ngaphambi kwe-aphoyintimenti yakho, ugxile esifweni senhliziyo, i-cholesterol ephezulu, nokufa ekuqaleni. Bhala phansi ukuthi yibaphi abantu bomndeni ababenalezi zinkinga futhi ngeminyaka engakanani beze babe nazo.

Letha uhlu lwemithi yonke, izongezo, namavithamini owaqala ukuwathatha. Faka imithamo nokuthi ubathatha kangaki. Lokhu kusiza udokotela wakho ukuba agweme ukusebenzisana futhi ahlele ukwelashwa kwakho ngokuphepha.

Lungisa imibuzo mayelana nesimo sakho, izinketho zokwelashwa, nokuthi yini okulindelekile. Buza ngamanqanaba e-cholesterol okuhlosiwe, imiphumela emibi yemithi, nokuthi uzodinga ukuhlolwa okuphindaphindayo kangaki. Unganqikazi ukucela incazelo uma kukhona okungacaci.

Yini eyinhloko mayelana ne-Familial Hypercholesterolemia?

I-Familial hypercholesterolemia yisimo sezempilo esilawuleka esidinga ukwelashwa okuphila konke, kodwa ngokunakekelwa okuhle, ungaphila impilo egcwele nempilo. Ukuhlolwa ekuqaleni nokwelashwa kubalulekile ekuvimbeleni isifo senhliziyo nezinye izinkinga.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi leli simo alisiyona iphutha lakho, futhi akuyona into obungayivimbela ngezinqumo zokuphila. Kuyinto nje eguqukayo yezakhiwo ethinta indlela umzimba wakho ophatha ngayo i-cholesterol.

Ngokusebenza okuphumelelayo namuhla, abantu abane-familial hypercholesterolemia bangafinyelela emanqanabeni e-cholesterol aseduze kwavamile futhi banciphise kakhulu ubungozi be-cardiovascular. Okubalulekile ukusebenzisana eduze neqembu lakho lezokunakekelwa kwezempilo nokugcina ukuzimisela ohlelweni lwakho lokwelashwa.

Imibuzo Evamile Mayelana ne-Familial Hypercholesterolemia

Q1: Ingabe abantwana bangaba ne-familial hypercholesterolemia?

Yebo, abantwana bangazalwa bene-familial hypercholesterolemia njengoba kuyisimo sezempilo esidluliselwa ngezakhiwo. Ukuhlolwa kwezingane kunconywa kubantwana abane abazali abahlushwe, ngokuvamile kuqala cishe eminyakeni engu-2. Ukutholakala ekuqaleni kuvumela ukulungiswa kwendlela yokuphila futhi, uma kudingeka, imithi yokuvimbela izinkinga zenhliziyo zesikhathi esizayo.

Q2: Ingabe amanqanaba ami e-cholesterol azoke abe ajwayelekile ngaleli simo?

Nakuba i-cholesterol yakho ingase ingafinyeleli emanqanabeni afanayo nomuntu ongenalo leli simo, ukwelashwa okuphumelelayo kunganciphisa amanqanaba akho kakhulu. Abantu abaningi abane-familial hypercholesterolemia bafinyelela emanqanabeni e-cholesterol okuhlosiwe anciphisa ubungozi be-cardiovascular sabo kuya ezilinganisweni eziseduze kwavamile ngokwelashwa okuhle nemithi yokuphila.

Q3: Ingabe ngidinga ukulandela ukudla okukhethekile nge-familial hypercholesterolemia?

Nakuba ukushintsha ukudla kudwa kungelaphi i-familial hypercholesterolemia, ukulandela ukudla okunempilo kwenhliziyo kungasekele ukwelashwa kwakho ngemithi. Gxilisa ekuthuthukiseni amafutha agcwele, amafutha e-trans, nama-cholesterol okudla ngenkathi ugcizelela izithelo, imifino, ukudla okugcwele, namaprotheni ahlanzekile. Udokotela wakho noma umqeqeshi wokudla obhalisiwe angakunikeza isiqondiso esikhethekile.

Q4: Ingabe ngingayidlulisela leli simo kubantwana bami?

Yebo, i-familial hypercholesterolemia ingadluliselwa kubantwana. Uma uneli simo, umntwana ngamunye unethuba elingu-50% lokulithola. Ukubonisana ngezakhiwo kungakusiza ukuqonda ubungozi nezinzuzo zokuhlela umndeni, futhi ukuhlolwa ekuqaleni kungaqinisekisa ukwelashwa okusheshayo uma abantwana bakho behlushwe.

Q5: Ingabe kukhona ukwelashwa kwemvelo kwe-familial hypercholesterolemia?

Nakuba izindlela zemvelo njengokuzivivinya, ukudla okunempilo, nezinye izongezo zingasiza ekusekeleni impilo yonke ye-cardiovascular, azanele ekuphileni i-familial hypercholesterolemia yodwa. Leli simo lezempilo ngokuvamile lidinga imithi yemithi ukuze lifinyelele amanqanaba e-cholesterol aphephile. Hlala uxoxa nganoma yiziphi izindlela zemvelo nodokotela wakho ngaphambi kokuzizama.