Sonke sikhuluma nge-cholesterol ngaso sonke isikhathi, futhi sikhathazeka ngayo, akunjalo? Kodwa cabanga ngakho, wake wezwa ngesifo esizuzwe njengefa lapho amazinga e-cholesterol ephezulu kakhulu kusukela ebuntwaneni, mhlawumbe ngisho nasebuntwaneni? Namuhla sizokhuluma ngesifo esisodwa esingavamile kodwa esibaluleke kakhulu. Lokhu kubizwa ngokuthi i-Homozygous Familyal Hypercholesterolemia (HoFH). Nakuba leli gama liyinkimbinkimbi kancane, masiliqonde kalula.
Kuyini i-Homozygous Familyal Hypercholesterolemia?
Kalula nje, lesi yisifo esibangelwa izakhi zofuzo esenza kube nzima ngemizimba yethu ukususa i-cholesterol "embi", okungukuthi, i-LDL (Low-Density Lipoprotein) cholesterol, egazini lethu. Sonke siyazi ukuthi i-cholesterol iyinto efana ne-wax edingwa amangqamuzana ethu. Umsebenzi we-LDL cholesterol ukuthwala le cholesterol emzimbeni wonke ngegazi.
Kodwa uma amazinga e-LDL ekhuphuka kakhulu, le cholesterol eyengeziwe iqala ukunqwabelana emithanjeni yegazi ehlinzeka ngegazi ezinhliziyweni zethu, imithambo yegazi. Ngokuhamba kwesikhathi, lawa ma-depositi angavimba imithambo yegazi, anqamule igazi nomoya-mpilo oya enhliziyweni, futhi andise ingozi yokuhlaselwa yinhliziyo .
Lesi sifo sizalwa naso. Lokhu kusho ukuthi ungaba ne-cholesterol ephezulu kusukela ebuntwaneni. Lesi yisimo esibucayi esingenakwelashwa futhi okumele silawulwe impilo yakho yonke.
Uma ingelashwa, amadoda analesi simo angaba nesifo senhliziyo lapho eneminyaka engu-40 kanti abesifazane abaneminyaka engu-50. Ngakho-ke, kubaluleke kakhulu ukuqaphela lokhu nokufuna ukwelashwa okufanele.
Iyini imbangela yalokhu?
Lokhu sikubiza ngokuthi isifo sofuzo. Empeleni, uthola lesi sifo kuphela uma uthola amakhophi amabili esakhi sofuzo esingasebenzi kahle, esisodwa kumama wakho nesinye kuyihlo .
Ngokuvamile, isibindi sethu sisusa i-cholesterol ye-LDL eningi egazini. Isibindi sine-'LDL receptors' ekhethekile yalokhu. Lawa afana nama-magnet athatha i-cholesterol ayisuse egazini. Kodwa kumuntu onalesi sifo, ngenxa yesakhi sofuzo esingalungile esizuzwe njengefa, lawa ma-receptor awasebenzi kahle. Umphumela uba ukuthi amazinga e-cholesterol akhuphuka ngokungalawuleki.
Kungenzeka ukuthi uke wezwa nge-'Heterozygous' Familyal Hypercholesterolemia. Lokhu kwenzeka lapho i-gene enephutha izuzwa kumzali oyedwa kuphela. Lesi simo asibi kakhulu njenge-'Homozygous'.
Ziyini izimpawu zalesi sifo?
Kunezimpawu eziningana eziyinhloko ezingasetshenziswa ukuhlonza lesi sifo. Ake sizibheke etafuleni.
| Isici | Incazelo |
|---|---|
| Izinga le-cholesterol ephezulu kakhulu | Amazinga e-cholesterol ephelele angaba ngu-600 mg/dL noma ngaphezulu (izinga eliphilile lingaphansi kuka-200). |
| Ama-deposit esikhumba (ama-Xanthomas) | Amaqhubu aphuzi, anjengenhlaka ngaphansi kwesikhumba ezindololwaneni, emadolweni nasezinqeni. Lawa ama-cholesterol deposits. |
| Ama-deposits kuma-eyelid (Xanthelasmas) | Amanoni aphuzi ahlala emajwabu amehlo. |
| Izinguquko zamehlo (i-Arcus cornealis) | Indandatho empunga noma emhlophe ezungeze iso elimnyama. |
| Izimpawu zenhliziyo | Izimpawu ezifana nobuhlungu besifuba (i-angina), ukuphelelwa umoya, kanye nokushaya kwenhliziyo okusheshayo kungenzeka esemncane. |
Ungasithola kanjani lesi sifo?
Uma unalezi zimpawu, kubalulekile ukubona udokotela wakho. Udokotela uzoqala ngokukuhlola umzimba bese ekubuza imibuzo embalwa.
- Uke waphawula yini into efana namabala aphuzi esikhumbeni sakho?
- Ingabe unezinhlungu esifubeni?
- Ingabe uzizwa uphelelwa umoya?
- Ingabe abazali bakho nabo bane-cholesterol ephezulu?
Ngemuva kwalokho, udokotela wakho uzokwenza ukuhlolwa kwegazi ukuhlola amazinga akho e-cholesterol. Bangase futhi benze ukuhlolwa kofuzo ukuze babone ukuthi unayo yini i-gene enephutha ebangela lesi sifo. Udokotela wakho angase futhi ahlole amalungu omndeni wakho aseduze.
Izindlela zokwelapha kanye nokuphathwa kwazo
Umgomo oyinhloko wokwelashwa ukwehlisa amazinga akho e-cholesterol e-LDL nokunciphisa ingozi yakho yesifo senhliziyo.Uzovame ukuthunyelwa kudokotela ochwepheshe bezifo ze-cholesterol ezinjengalesi (Lipidologist).
Izinguquko endleleni yokuphila kanye nokudla
Isinyathelo sokuqala ukwamukela ukudla okunempilo kwenhliziyo okunamafutha agcwele, i-cholesterol, noshukela omncane. Kubalulekile futhi ukuyeka ukubhema, ukunciphisa utshwala, nokuzivocavoca nsuku zonke.
Imithi
Ngenxa yokuthi amazinga akho e-cholesterol aphezulu ngendlela engavamile, ungase uqale ukuthatha imithamo ephezulu yama -statin , asebenza ngokuvimbela isibindi ekukhiqizeni i-cholesterol.
Kanye nalokho, eminye imithi enciphisa inani le-cholesterol emuncwa ekudleni (isib. i-Ezetimibe , i-PCSK9 inhibitors , i-Lomitapide ) ingafakwa.
Ukwelashwa okuqondile
Uma i-cholesterol ingenakukwazi ukulawulwa ngemithi yodwa, kuzodingeka kucatshangelwe ezinye izindlela zokwelapha.
- I-Apheresis: Lena inqubo efana ne-dialysis yeziguli zezinso. Uxhunywe emshinini esibhedlela, igazi lakho liyakhishwa emzimbeni wakho, i-cholesterol ye-LDL iyahlungwa, bese igazi elihlanziwe libuyiselwa emzimbeni wakho. Lokhu ukwelashwa okuthatha amahora amaningana futhi okudingeka kwenziwe njalo.
- Ukufakelwa Kwesibindi: Uma kungekho ukwelashwa okungenhla okuphumelelayo, ukufakelwa kwesibindi kungaba yindlela yokugcina. Isibindi esisha esinempilo sine-LDL receptors, engasiza ekulawuleni i-cholesterol. Lokhu ukuhlinzwa okungathi sína kakhulu, futhi ukululama kungathatha izinyanga eziyisithupha kuya onyakeni.
Uma uphathwa kabi kangaka, kubaluleke kakhulu ukufuna ukwesekwa ngokomzwelo emndenini nakubangane. Khuluma ngokukhululekile ngalokhu nodokotela wakho.
Umlayezo Wokuya Nawe Ekhaya
- I-Homozygous Familyal Hypercholesterolemia yisimo esibi, kodwa esingavamile, esibangelwa izakhi zofuzo esibangela amazinga aphezulu kakhulu e-cholesterol.
- Lokhu kungenxa yokuthi bazuza izakhi zofuzo ezimbili ezinephutha kunina nakuyise.
- Ngokuthola nokuqala ukwelashwa esemncane, ingozi yesifo senhliziyo esemncane ingancishiswa.
- Ukwelashwa kungokwempilo yonke futhi kungafaka imithi, ukudla, ukuvivinya umzimba, kanye nokwelashwa okukhethekile (i-apheresis).
- Uma othile emndenini wakho eke waba nesifo senhliziyo noma i-cholesterol ephezulu esemncane, kuwukuhlakanipha ukuthi uhlolwe i-cholesterol yakho njengoba udokotela wakho ekuyalile.
- Awuwedwa kulolu hambo. Sebenzisana nodokotela wakho, umndeni wakho, kanye namaqembu okusekelana ukuze uphathe lesi simo ngempumelelo.











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