Ngaba kukho abantu kusapho lwakho abaye bahlaselwa yintliziyo ngaphambi kokuba baluphale, oko kukuthi, xa beneminyaka engama-40-50 ubudala? Okanye ngaba kuqhelekile ukuba abantu kusapho lwakho bathi rhoqo, "I-cholesterol ephezulu, i-cholesterol ephezulu"? Ixesha elininzi, sicinga ukuba isizathu soku zizinto ezifana noko sikutyayo nesikuselayo, nokungazilolongi. Oko kuyinyani, kwaye oko kunefuthe. Kodwa ngamanye amaxesha, isizathu sokwenyani sale cholesterol iphezulu sinokuba yingxaki engaphakathi emizimbeni yethu, kwiijini zethu. Yiloo nto siyibiza ngokuba yi-'Familial Hypercholesterolemia' okanye 'FH' kunyango. Namhlanje, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.
Ngamafutshane, yintoni iFamilial Hypercholesterolemia (FH)?
I-Familial Hypercholesterolemia yimeko yemfuza efunyanwa ngumama, utata, okanye bobabini. Oku kuxa i-cholesterol "embi", okanye i-LDL cholesterol, emizimbeni yethu iphezulu kakhulu ukususela ekuzalweni.
Cinga ngemithambo yegazi yethu njengemithambo yegazi. Le cholesterol 'ye-LDL' ifana nomaleko otyheli, ofana ne-wax onamathela eludongeni lwaloo mithambo yegazi. Ngokwesiqhelo, ezi ziyaqokelelana kancinci kancinci. Kodwa kumntu one-'FH', inqanaba le-'LDL' cholesterol liphezulu kangangokuba lo maleko ufana ne-wax uqala ukuqokelelana ngokukhawuleza nangokutyebileyo ngaphakathi kwemithambo yegazi. Oku sikubiza ngokuba yi-'atherosclerosis'. Ekuhambeni kwexesha, lo maleko ukhula kwaye unciphise imithambo yegazi, ngamanye amaxesha uyivale ngokupheleleyo. Kulapho ke kwenzeka khona izinto ezisongela ubomi ezifana nokuhlaselwa yintliziyo kunye nokubetha.
Inqanaba le-cholesterol ye-'LDL' yomntu ophilileyo oqhelekileyo kufuneka libe ngaphantsi kwe-100 mg/dL. Nangona kunjalo, kumntu one-'FH`, eli xabiso linokuba phezulu kakhulu, njenge-160 mg/dL, 190 mg/dL . Kwezinye iimeko ezinzima, linokudlula i-400 mg/dL. Eyona nto iyingozi kukuba ekubeni le meko ibikho ukususela ebuntwaneni, ukuba ayinyangwa, umngcipheko wokufumana isifo sentliziyo uphezulu kakhulu kumntwana osemncinci kakhulu kunomntu oqhelekileyo.
Eli bali lisenokuvakala liyoyikisa kancinci, kodwa iindaba ezimnandi zezokuba ukuba ulichonga kwangethuba, uthabathe amayeza afanelekileyo, kwaye wenze utshintsho kwindlela ophila ngayo, ungalilawula ngokupheleleyo kwaye uphile ubomi obusempilweni.
Kukho iintlobo ezimbini eziphambili ze-FH.
Le meko yahlulwe yaba ziintlobo ezimbini eziphambili ngokusekelwe kwindlela esiyizuza ngayo njengelifa. Kulula kakhulu ukuyiqonda le nto.
Khawuthelekelele ukuba imizimba yethu inemiyalelo emibini yokulawula i-cholesterol. Omnye siwufumana kumama wethu, omnye siwufumana kutata wethu.
1. I-Heterozygous FH: Olu lolona hlobo luqhelekileyo. Okwenzekayo apha kukuba kukho isiphene 'kwincwadi yemiyalelo' (ijini) esizuzwe kumzali omnye kuphela , nokuba ngumama okanye ngutata. Oku kuthetha ukuba enye incwadi ilungile, kwaye enye incwadi inempazamo encinci. Oku kubangela ukuba ulawulo lwe-cholesterol lungabi luncedo kangako.
2. I-Homozygous FH: Oku kunqabile kakhulu, kwaye kukwanzima kakhulu.Uhlobo. Okwenzekayo apha kukuba zombini 'imiyalelo' efunyenwe kumama notata ineziphene. Emva koko indlela elawula i-cholesterol iba buthathaka kakhulu. Amanqanaba e-cholesterol 'e-LDL' aba bantu aphezulu kakhulu.
I-'FH' sisifo semfuza kudidi lwe-'autosomal dominant'. Oku kuthetha ukuba umntwana akufuneki azuze i-gene enesiphene kubazali bobabini ukuze azuze esi sifo, kwanele ukusizuza kumzali omnye kuphela .
Oku kuthetha ukuba ukuba une-`FH`, kukho amathuba angama-50% okuba umntwana wakho azuze esi sifo njengelifa. Ngokufanayo, kukho amathuba angama-50% okuba abantakwenu nabo babe nale meko.
Ixhaphake kangakanani le meko? Zithini iimpawu zayo?
Kuqikelelwa ukuba umntu omnye kubantu abangama-250 emhlabeni unesifo esiqhelekileyo esithi 'Heterozygous FH'. Kodwa eyona nto ibuhlungu kukuba abantu abali-9 kwabalishumi abazi ukuba banaso esi sifo .
Rhoqo, i-FH ayibonisi zimpawu zithile kwizigaba zokuqala. Usenokungazi ukuba une-FH de ube nokuhlaselwa yintliziyo, njengentlungu yesifuba. Kodwa ke kusenokwenzeka ukuba kube sekwephuzile. Oku kungenxa yokuba i-cholesterol efakwa kwimithambo yegazi yomntu one-FH iqala ukwakheka ukususela ngomhla wokuzalwa kwakhe.
Ngokuhamba kwexesha, ukuqokelelana kwe-cholesterol kunokukhokelela kwezi mpawu zilandelayo.
| Uphawu | Ingcaciso elula |
|---|---|
| Isifo sentliziyo kubantu abancinci | Intlungu yesifuba (i-angina) eyenzeka ngexesha lokuzilolonga okanye xa uphumle, ukuhlaselwa yintliziyo okanye isifo sohlangothi eselula (amadoda - angaphantsi kweminyaka engama-55 ubudala, abafazi - abangaphantsi kweminyaka engama-65 ubudala). |
| Xanthomas | Amaqhuma atyheli abangelwa kukufakwa kwe-cholesterol phantsi kolusu. La maqhuma abonakala kakhulu kwiingqiniba, emadolweni, kumalungu eminwe, nakufutshane ne-Achilles tendon (ngaphezulu kwesithende). |
| I-Xanthelasmas | Iintsalela ze-cholesterol ezimthubi ezenzeka phantsi kolusu olujikeleze iinkophe. |
| I-Corneal Arcus | Isangqa esimhlophe, esingwevu, okanye esiluhlaza okwesibhakabhaka esijikeleze iliso elimnyama. Oku kuqheleke kakhulu kubantu abadala, kodwa ukuba kubonakala kumntu ongaphantsi kweminyaka engama-45 ubudala , kusenokuba luphawu lwe-FH. |
| Ukujika ingqekembe | Intlungu kwimilenze engezantsi, ingakumbi xa uhamba. Oku kusenokubangelwa kukuncitshiswa kwemithambo yegazi ehambisa igazi emilenzeni. |
Ifunyaniswa njani i-FH?
Ukuba ugqirha wakho ukrokrela ukuba une-FH, uza kujonga izinto ezininzi ukuqinisekisa ukuba unesifo.
- Uvavanyo lwegazi: Olu lolona lubalulekileyo. Uvavanyo lwegazi olubizwa ngokuba yi-'Lipid Profile', olujonga amanqanaba akho e-cholesterol, lukhangela amanqanaba aphezulu ngokungaqhelekanga e-'LDL' cholesterol. Ukuba ingaphezulu kwe -190 mg/dL kumntu omdala, okanye ingaphezulu kwe- 160 mg/dL kumntwana, kurhanelwa ukuba i-'FH`.
- Imbali yezonyango yosapho: Oku kubaluleke kakhulu. Ugqirha wakho ngokuqinisekileyo uza kukubuza imibuzo efana nale, "Ngaba utata wakho, umama, utatomkhulu noomakhulu, okanye abantakwenu bakha bahlaselwa sisifo sentliziyo besebancinci?" "Ngaba kukho umntu kusapho lwakho one-cholesterol ephezulu?"
- Uvavanyo lomzimba: Ugqirha uza kujonga umzimba wakho ukuba akukho nanye imiqondiso ye-xanthomas (amaqhuma esikhumba) okanye i-cornea arcus (indandatho yamehlo).
- Uvavanyo lwemfuza (uvavanyo lwe-DNA): Kwezinye iimeko, uvavanyo lwemfuza lunokwenziwa ukuqinisekisa ngokuqinisekileyo isifo. Oku kunokujonga iziphene kwiimfuza eziphambili ezibangela i-FH (ezifana ne-APOB, i-LDLR, okanye i-PCSK9).
Zithini iindlela zonyango?
I-'FH' ayisosifo esinokusinyanga. Kuba yinto eza ne-genes zethu. Kodwa inokulawulwa kakuhle . Injongo ephambili yonyango kukunciphisa amanqanaba e-cholesterol 'e-LDL' kangangoko kunokwenzeka, ukunciphisa umngcipheko wesifo sentliziyo.
1. Amayeza (iintlobo zamayeza)
Utshintsho kwindlela yokuphila lodwa alwanelanga ukulawula i-cholesterol kumntu one-'FH'. Ke ngoko , kufuneka kuthathwe iyeza elinye okanye ngaphezulu ubomi bakhe bonke .
- Iistatini:La ngamayeza aqhelekileyo nasetyenziswa kakhulu kudidi lokuqala. Asebenza ngokunciphisa ukuveliswa kwe-cholesterol sisibindi.
- Izithinteli ze-PCSK9: Ezi ziluhlobo olutsha lwamayeza afakwa kwi-injection. Zisebenza kakhulu kubantu abanamanqanaba e-cholesterol angenakulawulwa ngama-statins kuphela.
- I-Ezetimibe: Eli yeza lisebenza ngokunciphisa ukufunxwa kwe-cholesterol ekutyeni esikutyayo. Lidla ngokunikezelwa kunye ne-statins.
- Amanye amayeza: Ukongeza, kukho amanye amayeza afana ne-'Bile acid sequestrants' kunye ne-'Fibrates'. Ugqirha wakho uya kugqiba ukuba loluphi unyango olukufaneleyo.
2. Utshintsho kwindlela yokuphila
Kunye nokusela amayeza, kubalulekile ukulandela indlela yokuphila esempilweni. Oku akupheleli nje ekunyuseni ukusebenza kakuhle kwamayeza, kodwa kunokunciphisa nomngcipheko wesifo sentliziyo.
| Kwenziwe ntoni | Izinto ekufuneka uziphephe |
|---|---|
| Ukutya okunempilo entliziyweni: Imifuno, iziqhamo, iimbotyi, iinkozo ezipheleleyo ezine-fibrous (irayisi emdaka, i-oats), intlanzi (i-salmon, i-mackerel, i-herring), ubisi olunamafutha aphantsi kunye nenyama. | Amafutha agcweleyo nagqithisileyo: Ukutya okuqhotsiweyo, ukutya okukhawulezayo, iimveliso zokubhaka (iikeyiki, iipatties), inyama enamafutha, ukusetyenziswa kakhulu kweoyile yekhokhonathi kunye neoyile yesundu. |
| Ukuzilolonga rhoqo: Zilolonge njengokuhamba ngokukhawuleza, ukubaleka, okanye ukukhwela ibhayisekile ubuncinane imizuzu engama-30 ngosuku, ubuncinane iintsuku ezi-5 ngeveki. | Ukutshaya notywala: Ukutshaya kufuneka kuyekwe ngokupheleleyo. Kuyonakalisa kakhulu imithambo yegazi. Ukusela utywala kufuneka kuncitshiswe. |
| Ukugcina ubunzima obusempilweni: Ukulawula ubunzima bomzimba kunokunciphisa uxinzelelo entliziyweni. | Iziselo ezineswekile kunye nokutya okuneswekile eninzi: Oku kunokubangela ukutyeba kunye nezinye iingxaki zempilo. |
3. Ezinye iindlela zonyango ezithile
Kubantu abane-homozygous FH enzima kakhulu, amayeza ewodwa asenokungakwazi ukulawula i-cholesterol yabo. Kwaba bantu, kwenziwa unyango olubizwa ngokuba yi-LDL apheresis. Oku kufana ne-dialysis. Kuthathwa igazi elincinci, lidluliselwe kumatshini, osusa i-LDL cholesterol embi, uze ulifake kwakhona emzimbeni. Oku kwenziwa kanye okanye kabini ngeveki.
Ukuba une-FH, yintoni omele uyenze?
Ukuba ufunyaniswe une-'FH', ayikuko nje kuphela okumalunga nawe. Ngumyalezo obalulekileyo kusapho lwakho lonke.
Ukuba une-FH, luxanduva lwakho ukuba abazali bakho, abantakwenu, kunye nabantwana bakho bavavanyelwe i-cholesterol. Oku sikubiza ngokuba 'kukuhlolwa kwe-cascade.' Oku kunokunceda ekuchongeni amanye amalungu osapho ngaphambi kokuba kuvele iimpawu kwaye kuqaliswe unyango lwawo.
Ukuba umntwana unembali yentsapho ethi `FH`, i-cholesterol inokuvavanywa kwanakwiminyaka emi-2 ubudala. Ngenxa yokuba unyango lwale meko luqala ngokukhawuleza, iingxaki ezinokwenzeka zingancitshiswa kwixesha elizayo.
Ukuba une-'FH', musa ukoyika. Hlala unxibelelana nogqirha wakho. Sela amayeza akho ngexesha. Yenza utshintsho kwindlela ophila ngayo. Emva koko nawe ungaphila ubomi obude nobunempilo njengaye wonke umntu.
Umyalezo Wokuya Ekhaya
- I-Familial Hypercholesterolemia (FH) sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana kwaye sibangela amanqanaba aphezulu e-cholesterol embi (LDL) ukususela ekuzalweni.
- Ukuba kukho umntu kusapho lwakho oye waba nesifo sentliziyo eselula okanye une-cholesterol ephezulu, kubaluleke kakhulu ukuba ahlolwe i-FH.
- Abantu abaninzi abanale meko abazi ukuba banale ngxaki. Ukufunyaniswa kwangethuba kunokusindisa ubomi.
- Amayeza obomi bonke kunye nendlela yokuphila enempilo zibalulekile ekulawuleni i-FH.
- Ukuba ufunyaniswe une-`FH`, cela abazali bakho, abantakwenu, kunye nabantwana bakho bavavanywe. Oku kuya kunceda ekusindiseni ubomi babo.
- Ngonyango olufanelekileyo, ungaphila ubomi obusempilweni nobude. Ngoko ke ungoyiki, qhagamshelana nogqirha wakho uze ufumane unyango.
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