Ake sifunde ngesifo iTangier, esenzeka kubantu abanamazinga aphansi e-cholesterol enhle (i-HDL) emzimbeni.

Wake wezwa ngohlobo lwe-cholesterol olubizwa ngokuthi i-good cholesterol (HDL / high-density lipoprotein) ? Yebo, yebo... Namuhla sizokhuluma ngesifo esingavamile kakhulu esenzeka lapho izinga lale cholesterol enhle emizimbeni yethu liphansi kakhulu. Lokhu kubizwa ngokuthi iTangier Disease . Ungase ungalazi leli gama, kodwa kubaluleke kakhulu ukwazi ngalo.

Siyini isifo seTangier? Masiqonde kalula!

Kulungile, ake siqale kusukela ekuqaleni. Isifo iTangier yisifo esingavamile kakhulu esisizuza kubazali bethu, okungukuthi, esizuzwe ngofuzo . Abantu abanalesi sifo banamazinga aphansi kakhulu e -cholesterol enhle (i-HDL) emizimbeni yabo. Ubuwazi, le cholesterol ye-HDL ayibizwa ngokuthi "i-cholesterol enhle" ngeze. Yibo abasiza ukugcina imizimba yethu ihlanzekile ngokususa i-cholesterol embi (i-LDL / i-low-density lipoprotein) evame ukwakheka emithanjeni yethu yegazi, okungukuthi, emithanjeni yethu .

Manje cabanga ngalokho okwenzekayo lapho le cholesterol enhle (i-HDL) yehla. Leyo cholesterol embi (i-LDL) kanye nezinye izinhlobo zamafutha (ama-lipid) ziqala kalula ukugcwala emithanjeni yethu yegazi. Njengoba nje ukungcola kubhajwa epayipini lamanzi. Lokhu kungabangela izinkinga enhliziyweni yethu, ekuhlaselweni yinhliziyo , noma kuholele ezimweni ezifana nesifo sohlangothi . Akukhona lokho kuphela, lesi sifo singathinta ezinye izitho eziningi emzimbeni wethu.

Kungani yabizwa ngokuthi "iTangier"?

Lena futhi indaba ethokozisayo kakhulu. Lesi sifo sibizwa ngokuthi "iTangier" ngenxa yesiqhingi saseTangier , esitholakala ngaphesheya kolwandle ukusuka esifundazweni sase-US saseVirginia. Lesi sifo saqala ukutholwa phakathi kwabantu ababehlala kuleso siqhingi. Kodwa-ke, lokho akusho ukuthi lokhu kuyinto ekhawulelwe kuleso siqhingi. Kukhona abantu abanalesi sifo nakwamanye amazwe omhlaba.

Sivame kangakanani isifo seTangier?

Empeleni, i-Tangier Disease iyisimo esingavamile kakhulu . Inani elincane kuphela labantu, cishe abayi-100, selitholakale emhlabeni wonke. Yingakho kungakhulunywa kakhulu ngaso. Kodwa noma singavamile, kubalulekile ukuqaphela lesi simo, akunjalo?

Isifo seTangier sithinta kanjani imizimba yethu?

Nakhu okwenzekayo. Uma sinesifo sikashukela, amazinga e-cholesterol enhle (i-HDL) emzimbeni wethu aphansi, ngakho amafutha (ama-lipid) awakwazi ukuhanjiswa esibindini sethu ngendlela efanele. Isibindi yisona esisusa la mafutha angafuneki emzimbeni. Ngakho-ke, la mafutha angenakususwa kancane kancane aqala ukuqongelela ezingxenyeni ezahlukene zomzimba wethu. Lapho la mafutha eqongelela, leso sitho singaba sikhulu kancane.

Amafutha avame ukufakwa ngale ndlela:

• Isibindi: Isibindi singakhula.
• Ubende:Ubende bungavuvukala futhi bukhule.
• Amathonsili: Amathonsili emphinjeni wethu. Angaba nombala ophuzi-orenji uma egcwele amafutha.
• Ama-lymph node: Lawa ayingxenye yesimiso sethu somzimba sokuzivikela. Angavuvukala futhi.
• Inhliziyo: Lokhu kungathinta nokusebenza kwenhliziyo.
• Ubuchopho: Ngezinye izikhathi ubuchopho bungathinteka.

Ngaphezu kwalokhu, kungase kuvele ezinye izinkinga:

• Izinkinga zemizwa: Izinkinga zemizwa, njengokungazweli emilenzeni, zingase zibe khona.
• Amazinga aphezulu e-triglyceride: Lolu uhlobo lwamafutha atholakala egazini, njenge-cholesterol.
• Izinkinga zokubona: Kungase kube namafu angajwayelekile emehlweni, futhi ngezinye izikhathi ukubona kungancipha.

Ziyini izimpawu zesifo saseTangier?

Lokhu kubaluleke kakhulu. Izimpawu zesifo iTangier zingahluka kuye ngomuntu. Kuya ngokuthi amafutha abekwe kuphi emzimbeni, njengoba ngishilo ekuqaleni. Abanye abantu bangase babonise izimpawu lapho bezalwa, kanti abanye bangase bangakhombisi izimpawu ezinkulu baze babe neminyaka engu-60-65 ubudala.

Nazi ezinye izimpawu ezivamile:

• Ubuhlungu besisu noma isicanucanu.
• Ukugcwala kwamafutha emithanjeni yegazi (i-atherosclerosis): Lokhu kwandisa ingozi yesifo senhliziyo.
• Isikhumba esomile.
• Ukugoqa ijwabu ngaphakathi (i-Ectropion): Lokhu kuyimpawu engavamile.
• I-anemia: Lokhu kusho ukuntuleka kwegazi.
• Ubuthakathaka bemisipha ezingalweni, emilenzeni, ezandleni, noma ezinyaweni.
• Ama-lymph node avuvukele isikhathi eside ngaphandle kokutheleleka.

Khumbula, ngezinye izikhathi lezi zimpawu zingaphambaniswa nezinye izifo, yingakho kubalulekile ukuthola ukuxilongwa okunembile.

Yini ebangela isifo seTangier? Ake sixoxe ngezakhi zofuzo!

Isifo seTangier sibangelwa yiphutha ku-gene ebizwa ngokuthi i-ABCA1 gene esiyizuza kubazali bethu. Kalula nje, i-ABCA1 gene iqukethe imiyalelo yokususa i-cholesterol emaseli ethu bese uyifaka ku-cholesterol enhle (i-HDL). I-HDL ithwala le cholesterol iye esibindini, lapho ikhishwa khona.

Manje, uma kukhona iphutha noma ukuguquka kwezakhi zofuzo ze-ABCA1, leyo miyalelo ayisebenzi kahle. Khona-ke ukususwa kwe-cholesterol emangqamuzaneni kanye nokwakheka kwe-HDL akwenzeki kahle. Umphumela uba ukuthi amazinga e-HDL ehla kakhulu.

Nansi indlela ezuzwa ngayo njengefa:

• Uma bobabili abazali bezuza ifa le-ABCA1 elinephutha, ingane izoba nesifo se-Tangier.
• Uma umzali oyedwa kuphela ezuza ifa lesakhi sofuzo esingalungile, ingane izoba yimthwali waso. Bangase bangakhombisi izimpawu, kodwa amazinga abo e-HDL angase abe ngaphansi kunokujwayelekile.

Manje ake sithi bobabili abazali bangabathwali balesi sakhi sofuzo esingasebenzi kahle, okusho ukuthi bangase bangabi nazimpawu, kodwa bobabili banaso. Uma abazali abanjalo benengane:

• Kukhona amathuba angu-25% (1/4) okuthi ingane izoba nesifo se-Tangier.
• Kukhona amathuba angu-50% (1/2) okuthi ingane izoba ngumthwali walesi sifo.
• Kukhona ithuba elingu-25% (1/4) lokuthi ingane ngeke izuze noma yiziphi izakhi zofuzo ezinephutha futhi izoba nempilo enhle.

Lokhu kufana nokuphonsa uhlamvu lwemali bese uthola amakhanda noma imisila. Lawa mathuba afanayo kukho konke ukukhulelwa.

Odokotela bahlonza kanjani isifo seTangier?

Ukuze uthole ukuthi unesifo seTangier, udinga ukubona udokotela. Uzoqala ngokukwenza ukuhlolwa ngokomzimba bese ebuza ngezimpawu zakho. Ngemuva kwalokho, bazo-oda ukuhlolwa kwegazi okuningana. Lokhu kuhlolwa kwegazi kubheka kakhulu izinga lakho le-cholesterol ye-HDL nokuthi amazinga akho ephrotheni ebizwa ngokuthi i-apolipoprotein A1 (ApoA1) aphansi kangakanani. Zombili lezi ziphansi kakhulu kubantu abaneSifo seTangier.

Ukuhlolwa kwezakhi zofuzo kungenziwa futhi ukuqinisekisa ukuxilongwa. Kungahlola ukuguquka okuthile kwezakhi zofuzo ze-ABCA1. Kodwa-ke, ukuhlolwa kwezakhi zofuzo kungase kungatholakali yonke indawo. Ezimweni ezinjalo, udokotela wakho angathatha ingxenye encane yezicubu (i-biopsy) engxenyeni yomzimba wakho, njenge-tonsils, isikhumba, noma isibindi. Uhlobo lwamafutha kulezi zicubu lungasetshenziswa ukuthola umbono wesifo.

Yimaphi amaprotheni antulayo kwiSifo saseTangier?

Esifweni saseTangier, iphrotheni ebizwa ngokuthi i-apolipoprotein A1 (ApoA1) incipha kakhulu. Le ApoA1 iyisakhi esiyinhloko se-molekyuli ye-cholesterol ye-HDL. Ngakho-ke uma i-ApoA1 yehla, amazinga e-HDL nawo ayancipha.

Yiziphi izivivinyo ezisetshenziswayo ukuze kutholakale isifo kanye nokulandelela?

Odokotela bangenza nezinye izivivinyo eziningana ukuze bathole isifo futhi baqaphe imiphumela yaso emzimbeni.

• Ukuhlolwa kokusebenza kwemizwa nemisipha (i-Electromyograms / i-EMG): Hlola umonakalo wemizwa kanye nobuthakathaka bemisipha.
• Ukuhlolwa kwamehlo: Hlola noma yiziphi izinkinga zokubona noma zokubona okufiphele.
• I-Ultrasound esiswini sakho/esiswini: Hlola isimo sezitho zomzimba ezifana nesibindi kanye ne-spleen.
• I-Ultrasound emithanjeni yakho ye-carotid: Hlola ukuthi amafutha akhona yini emithanjeni eyinhloko entanyeni yakho.
• I-CT angiogram yenhliziyo yakho:Hlola ukuthi imithambo yegazi ivimbekile yini enikeza igazi enhliziyweni.
• I-Echocardiogram: Iskeni sokubheka umsebenzi kanye nesakhiwo senhliziyo.
• Ukuhlolwa kokucindezeleka kokuzivocavoca: Bona ukuthi inhliziyo isabela kanjani ekuzivocavoceni.

Isifo saseTangier siphathwa kanjani?

Uma ngikhuluma iqiniso, akukho ukwelashwa okuqondile okungayelapha ngokuphelele iTangier Disease. Ngenxa yokuthi kuyisimo sofuzo, kunezinto eziningi ongazenza ukulawula izimpawu nokunciphisa izinkinga.

Ngezinye izikhathi, isitho esilimele ngenxa yokugcwala kwamafutha, isibonelo amathonsi noma ubende, kungadingeka sisuswe ngokuhlinzwa .

Ingabe ukudla neziphuzo kungasiza?

Yebo, kungenzeka ngempela. Kukhona ukudla okungasiza ekukhuphuleni kancane amazinga ethu e-cholesterol enhle (i-HDL), futhi kusize ekunciphiseni amazinga ethu e-cholesterol embi (i-LDL).

• Ama-avokhado
• Amafutha omnqumo
• Imifino efana nobhontshisi nobhontshisi (Ubhontshisi)
• Okusanhlamvu okuphelele (isb., irayisi eliphelele, ilayisi eliphelele)
• Inhlanzi enamafutha ( isb. i-salmon, i-mackerel, i-herring)
• Amantongomane ( isib. amantongomane, ama-alimondi, ama-cashew - kodwa ngaphandle kosawoti)
• Izithelo ezine-fiber eningi (isib. i-guava, i-mango, ubhanana)
• Imbewu ye-chia kanye nembewu ye-flax

Ukuzama ukufaka lokhu kudla ekudleni kwakho njalo kuzosiza ukugcina amazinga e-cholesterol enhle.

Yiziphi izinguquko zemithi kanye nendlela yokuphila?

Udokotela wakho angase akunike imithi yokwehlisa i-cholesterol , njenge-statins.

Iphinde income ukwenza izinguquko eziningana zendlela yokuphila ezingasiza ekwandiseni amazinga e-HDL:

• Ukuzivocavoca njalo: Lokhu kuhlanganisa ukuhamba noma ukugijima okungenani imizuzu engama-30 ngosuku.
• Ukungayisebenzisi imikhiqizo kagwayi: Kufanele uyeke ukubhema ugwayi ngokuphelele.
• Ukuhlala unesisindo esinempilo.
• Yidla amafutha agcwele atholakala ezintweni ezifana namafutha kakhukhunathi, amafutha esundu, namafutha ezilwane. Amafutha agcwele atholakala emafutheni omnqumo nakuma-avokhado.

Iyini imiphumela emibi yokwelashwa?

Imithi yokwehlisa i-cholesterol ngezinye izikhathi ingaba nemiphumela emibi emincane. Akuwona wonke umuntu oyitholayo, kodwa kuhle ukuqaphela.

• Ubuhlungu bekhanda
• Ubuhlungu bemisipha
• Ukuqunjelwa
• Isisu esibuhlungu

Uma kwenzeka into efana nale, kufanele utshele udokotela wakho. Ngemuva kwalokho angashintsha umuthi noma akunike esinye iseluleko.

Ingabe isifo seTangier singavinjelwa?

Njengoba lesi kuyisimo sofuzo, asikwazi ukusivimbela ukuthi singakhuli. Lokhu kusho ukuthi uma unalesi sici ezizakhini zakho zofuzo, asinakushintshwa. Kodwa-ke, uma unalesi sifo, noma uma ungumthwali waso, ungaxhumana nomeluleki wezakhi zofuzo ukuze uthole ingozi yokuthi izingane zakho zisithole njengefa. Ngemuva kwalokho, uma ucabangela isimo sofuzo somunye umzali, ungathola umbono ocacile ngamathuba okuba izingane zakho zisithole.

Uma nginesifo seTangier, kuzokwenzekani esikhathini esizayo?

Isibikezelo kubantu abaneSifo saseTangier ngokuvamile sihle, kodwa kuncike ekutheni izimpawu zakho zithuthuke kangakanani. Njenganoma yisiphi isifo, ukuxilongwa kusenesikhathi kungcono kakhulu, ngaphambi kokuba izimpawu zibe zimbi kakhulu.

Nakuba kungekho ikhambi eliqinisekile lalokhu okwamanje, kunethemba lokuthi izinto ezifana nokwelashwa ngezakhi zofuzo zizosiza esikhathini esizayo. Ucwaningo lusaqhubeka.

Isifo saseTangier sihlala isikhathi esingakanani?

Njengoba lesi kuyisifo esibangelwa ufuzo, sihlala isikhathi eside. Kodwa-ke, uma sitholakala kusenesikhathi futhi sihlolwa njalo, lesi sifo singaphathwa kahle futhi siphile naso.

Ngizinakekela kanjani?

Uma une-spleen ekhulisiwe ngenxa yesifo se-Tangier, kufanele nakanjani ugweme imidlalo yokuthintana, ngoba ukuxhumana okunjalo kungabangela ukuba i-spleen iqhume, okuyinto eyingozi.

Ngaphezu kwalokho, ezinye izinto ezibangela isifo senhliziyo kufanele zilawulwe:

• Ukulawula umfutho wegazi ophakeme .
• Uma unesifo sikashukela , silawule kahle.
• Ukugwema ukusetshenziswa kwemikhiqizo kagwayi.

Kufanele ngimbone nini udokotela?

Uma unesifo seTangier, kufanele ubonane nomhlinzeki wakho wezempilo njalo . Ngaleyo ndlela, uma izimpawu zakho ziba zimbi kakhulu, ungathatha isinyathelo ngokushesha.

Udokotela uzohlola lezi zinto kaningi:

• Uhlelo lwezinzwa.
• Inhliziyo.
• Amehlo.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ubona udokotela wakho, ungabuza imibuzo efana nale:

• Ingabe ngidinga ukuthatha imithi yokuthuthukisa amazinga ami e-cholesterol?
• Ingabe ikhona iqembu lokusekela abantu abanesifo seTangier abangalijoyina?
• Kufanele ngize kangaki ukukubona?

Njengoba i-Tangier Disease ingathinta izingxenye ezahlukene zomzimba, kungcono ukuhlolwa njalo kwengxenye ngayinye. Kungase kudingeke ukuthi ubonane nochwepheshe abaningana abahlukene. Thatha imithi njengoba nje udokotela wakho ekuyalele, futhi wenze konke okusemandleni akho ukugcina ukudla okunempilo kanye nesimiso sokuzivocavoca.

Izinto ezibaluleke kakhulu okudingeka sizikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake ngifingqe ezinye zezinto okudingeka uzikhumbule kulokho esikhulume ngakho.

• Isifo seTangier yisifo esingavamile, esibangelwa izakhi zofuzo esibangela ukwehla okukhulu kwe-cholesterol enhle (i-HDL).
• Lokhu kungabangela ukuthi i-cholesterol embi (i-LDL) namafutha aqongeleleke emzimbeni futhi kuthinte izitho ezifana nesibindi, ubende, amathonsi kanye nenhliziyo.
• Izimpawu ziyahlukahluka, futhi abanye abantu bangase babe nezinkinga zezinzwa, izinkinga zesikhumba, kanye nezinkinga zokubona.
• Lokhu kubangelwa yiphutha ku-gene ABCA1 .
• Lesi sifo sitholakala ngokuhlolwa kwegazi, ukuhlolwa kwezakhi zofuzo, futhi ngezinye izikhathi ukuhlolwa kwezicubu (i-biopsies) .
• Nakuba kungekho ikhambi eliqondile, izimpawu zingalawulwa ngokudla, ukushintsha indlela yokuphila, imithi, kanye nokuhlinzwa okuthile.
• Ukutholwa kusenesikhathi kanye nokwelashwa njalo kubaluleke kakhulu.

Ngakho-ke, ngithemba ukuthi lolu lwazi luzokusiza. Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela. Hlala uphilile!

Isifo saseTangier, i-cholesterol ye-HDL, i-cholesterol ye-LDL, izifo zofuzo, ukuphathwa kwe-cholesterol, ingozi yesifo senhliziyo, i-ApoA1