Masifunde ngeSifo saseTangier, esenzeka kubantu abanezinga eliphantsi le-cholesterol elungileyo (HDL) emzimbeni.

Ngaba wakha weva ngohlobo lwe-cholesterol ebizwa ngokuba yi -good cholesterol (HDL / high-density lipoprotein) ? Ewe, ewe... Namhlanje siza kuthetha ngesifo esingaqhelekanga esenzeka xa inqanaba lale cholesterol ilungileyo emizimbeni yethu liphantsi kakhulu. Oku kubizwa ngokuba yiTangier Disease . Usenokuba awuqhelananga neli gama, kodwa kubaluleke kakhulu ukwazi ngalo.

Yintoni isifo saseTangier? Masiqonde ngokulula!

Kulungile, masiqale kwasekuqaleni. Isifo saseTangier sisifo esingaqhelekanga kakhulu esisifumana kubazali bethu, oko kukuthi, esizuzwe ngokwemfuza . Abantu abanale sifo banamanqanaba aphantsi kakhulu e -cholesterol elungileyo (HDL) emizimbeni yabo. Ubusazi, le cholesterol ye-HDL ayibizwa ngokuba yi-"cholesterol elungileyo" ngelize. Ngabo abanceda ukugcina imizimba yethu icocekile ngokususa i-cholesterol embi (LDL / low-density lipoprotein) edla ngokuqokelelana kwimithambo yegazi yethu, oko kukuthi, kwimithambo yegazi yethu .

Ngoku cinga ngento eyenzekayo xa le cholesterol ilungileyo (i-HDL) incipha. Loo cholesterol imbi (i-LDL) kunye nezinye iintlobo zamafutha (i-lipids) ziqala ngokulula ukufakwa kwimithambo yethu yegazi. Njengokungcola okunamathelayo kumbhobho wamanzi. Oku kunokubangela iingxaki entliziyweni yethu, ekuhlaselweni yintliziyo , okanye kukhokelela kwiimeko ezifana nestroke . Ayipheleli apho, esi sifo sinokuchaphazela amanye amalungu amaninzi emzimbeni wethu.

Kutheni kwathiwa yi "Tangier"?

Eli libali elinomdla kakhulu. Esi sifo sibizwa ngokuba yi "Tangier" ngenxa yeSiqithi saseTangier , esikwicala lolwandle ukusuka kwilizwe lase-US laseVirginia. Esi sifo saqala ukufunyanwa phakathi kwabantu ababehlala kweso siqithi. Nangona kunjalo, oko akuthethi ukuba oku kuyinto ekuphela kwayo kweso siqithi. Kukho abantu abanaso esi sifo nakwamanye amazwe ehlabathi.

Ixhaphake kangakanani iTangier Disease?

Enyanisweni, iTangier Disease yimeko engaqhelekanga kakhulu . Linani elincinci labantu, malunga ne-100, abaye bachongwa kwihlabathi liphela. Yiyo loo nto kungathethwa kakhulu ngayo. Kodwa nangona ingaqhelekanga, kubalulekile ukuyiqonda le meko, akunjalo?

Isifo seTangier siwuchaphazela njani umzimba wethu?

Nantsi into eyenzekayo. Xa sinesifo seswekile, amanqanaba e-cholesterol entle emzimbeni wethu (i-HDL) aphantsi, ngoko ke amafutha (i-lipids) awanakuthuthwa aye esibindini sethu ngokufanelekileyo. Isibindi seso sisusa la mafutha angafunekiyo emzimbeni. Ngoko ke, la mafutha angenakususwa kancinci aqala ukuqokelelana kwiindawo ezahlukeneyo zomzimba wethu. Xa la mafutha eqokelelana, elo lungu linokuba likhulu kancinci.

Amafutha adla ngokubekwa ngolu hlobo:

• Isibindi: Isibindi sinokwanda.
• Ispleen:I-spleen ingadumba ize ikhule.
• Iitoni: Iitoni ezisemqaleni wethu. Zinokuba nombala otyheli-orenji xa zizaliswe ngamafutha.
• Ama-lymph nodes: La malungu omzimba wethu. Anokudumba.
• Intliziyo: Oku kunokuchaphazela nokusebenza kwentliziyo.
• Ubuchopho: Ngamanye amaxesha ingqondo nayo ingachaphazeleka.

Ukongeza koku, kunokubakho ezinye iingxaki:

• Iingxaki zemithambo-luvo: Iingxaki zemithambo-luvo, ezifana nokungaziva mnandi kwamalungu omzimba, zinokubakho.
• Amanqanaba aphezulu e-triglyceride: Olu luhlobo lwamafutha afumaneka egazini, njenge-cholesterol.
• Iingxaki zokubona: Kusenokubakho amafu angaqhelekanga emehlweni, kwaye ngamanye amaxesha ukubona kunokuncipha.

Zithini iimpawu zeSifo saseTangier?

Oku kubaluleke kakhulu. Iimpawu zeSifo saseTangier zingahluka kumntu nomntu. Kuxhomekeke ekubeni amafutha abekwe phi emzimbeni, njengoko benditshilo ngaphambili. Abanye abantu banokubonakalisa iimpawu xa bezalwa, ngelixa abanye besenokungabonakalisi zimpawu zibalulekileyo de babe neminyaka engama-60-65 ubudala.

Nazi ezinye zeempawu eziqhelekileyo:

• Intlungu yesisu okanye isicaphucaphu.
• Ukugcwala kwamafutha kwimithambo yegazi (i-atherosclerosis): Oku kwandisa umngcipheko wesifo sentliziyo.
• Ulusu olomileyo.
• Ukuqengqeleka ngaphakathi kwejwabu leso (i-Ectropion): Olu luphawu olungaqhelekanga.
• I-anemia: Oku kuthetha ukungabikho kwegazi.
• Ubuthathaka bemisipha kwiingalo, emilenzeni, ezandleni, okanye ezinyaweni.
• Ii-lymph nodes ezidumbileyo ixesha elide ngaphandle kosulelo.

Khumbula, ngamanye amaxesha ezi mpawu zinokuphambaniswa nezinye izifo, yiyo loo nto kubalulekile ukufumana uxilongo oluchanekileyo.

Yintoni ebangela isifo saseTangier? Masithethe ngemfuza!

Isifo seTangier sibangelwa sisiphene kwijini ebizwa ngokuba yi-ABCA1 gene esiyizuza kubazali bethu. Ngamafutshane, ijini ye-ABCA1 inemiyalelo yokususa i-cholesterol kwiiseli zethu kwaye iyongezwe kwi-cholesterol elungileyo (i-HDL). I-HDL ithwala le cholesterol iye esibindini, apho ikhutshwa khona.

Ngoku, ukuba kukho isiphene okanye utshintsho kwi-gene ye-ABCA1, loo miyalelo ayisebenzi kakuhle. Emva koko ukususwa kwe-cholesterol kwiiseli kunye nokwakheka kwe-HDL akwenzeki kakuhle. Isiphumo kukuba amanqanaba e-HDL ehla kakhulu.

Nantsi indlela ezuzwa ngayo njengelifa:

• Ukuba bobabini abazali bazuza ilifa le-ABCA1 gene enesiphene, umntwana uya kuba nesifo seTangier.
• Ukuba ngumzali omnye kuphela ozuza ilifa le gene enesiphene, umntwana uya kuba ngumthwali wayo. Basenokungabonakalisi zimpawu, kodwa amanqanaba abo e-HDL anokuba phantsi kunesiqhelo.

Ngoku khawucinge ukuba bobabini abazali bathwala esi sigulo sejini esinesiphene, oko kuthetha ukuba basenokungabi nazimpawu, kodwa bobabini banaso esi sigulo. Xa abazali abanjalo benomntwana:

• Kukho ithuba elingama-25% (1/4) lokuba umntwana afumane isifo seTangier.
• Kukho amathuba angama-50% (1/2) okuba umntwana abe ngunobangela wesifo.
• Kukho ithuba elingama-25% (1/4) lokuba umntwana akayi kuzuza ilifa lee-genes ezineziphene kwaye uya kuba sempilweni.

Oku kufana nokuphosa ingqekembe uze ufumane iintloko okanye imisila. La mathuba afanayo kuyo yonke into yokukhulelwa.

Oogqirha bayixilonga njani iSifo saseTangier?

Ukuze uqiniseke ukuba unesifo seTangier, kufuneka ubone ugqirha. Uza kuqala enze uvavanyo lomzimba aze akubuze ngeempawu zakho. Emva koko, baya kuyalela uvavanyo lwegazi oluninzi. Olu vavanyo lwegazi lujonga ikakhulu inqanaba le-cholesterol yakho ye-HDL kunye nokuba amanqanaba akho eproteni ebizwa ngokuba yi-apolipoprotein A1 (ApoA1) aphantsi kangakanani. Zombini ezi zinto ziphantsi kakhulu kubantu abaneSifo seTangier.

Uvavanyo lwemfuza lunokwenziwa ukuqinisekisa ukuxilongwa. Lunokujonga utshintsho oluthile kwi-ABCA1 gene. Nangona kunjalo, uvavanyo lwemfuza lusenokungafumaneki kuyo yonke indawo. Kwimeko ezinjalo, ugqirha wakho unokuthatha iqhekeza elincinci lesicwili (i-biopsy) kwinxalenye yomzimba wakho, njengeetoni zakho, ulusu, okanye isibindi. Uhlobo lwamafutha kwezi zicubu lunokusetyenziswa ukufumana umbono wesifo.

Yeyiphi iproteni enqongopheleyo kwiSifo saseTangier?

Kwisifo saseTangier, iproteni ebizwa ngokuba yi-apolipoprotein A1 (ApoA1) iyancipha kakhulu. Le ApoA1 yinxalenye ephambili yemolekyuli ye-cholesterol ye-HDL. Ngoko ke xa i-ApoA1 incipha, amanqanaba e-HDL nawo ayancipha.

Zeziphi iimvavanyo ezisetyenziselwa ukuxilongwa nokulandelela?

Oogqirha banokwenza nezinye iimvavanyo ezininzi ukuze baxilonge isifo kwaye bajonge iziphumo zesifo emzimbeni.

• Uvavanyo lwemithambo-luvo kunye nokusebenza kwemisipha (ii-Electromyograms / ii-EMG): Jonga umonakalo wemithambo-luvo kunye nobuthathaka bemisipha.
• Ukuhlolwa kwamehlo: Jonga ukuba akukho ngxaki yokubona okanye yokubona efipheleyo.
• I-ultrasound esiswini sakho/esiswini: Jonga imeko yamalungu anjengesibindi kunye ne-spleen.
• I-ultrasound kwimithambo yakho ye-carotid: Jonga ukuba akukho mafutha agciniweyo kwimithambo ephambili entanyeni yakho.
• I-CT angiogram yentliziyo yakho:Jonga ukuba akukho zithintelo kwimithambo yegazi ehambisa igazi entliziyweni.
• I-Echocardiogram: Iskeni yokujonga umsebenzi kunye nolwakhiwo lwentliziyo.
• Uvavanyo loxinzelelo lokuzivocavoca: Jonga indlela intliziyo esabela ngayo xa isenza umthambo.

Isifo saseTangier sinyangwa njani?

Inyaniso kukuba, akukho nyango luthile olunokunyanga ngokupheleleyo iSifo saseTangier. Ngenxa yokuba sisifo semfuza, zininzi izinto onokuzenza ukulawula iimpawu nokunciphisa iingxaki.

Ngamanye amaxesha, isitho esonakaliswe yimfumba yamafutha, umzekelo iitoni okanye ipleen, kunokufuneka sisuswe ngotyando .

Ngaba ukutya neziselo zinokunceda?

Ewe, kunokwenzeka ngokwenene. Kukho ukutya okunokunceda ukunyusa kancinci amanqanaba ethu e-cholesterol elungileyo (HDL), kwaye kuncede nokunciphisa amanqanaba ethu e-cholesterol embi (LDL).

• Iiavokhado
• I-oyile ye-olivu
• Iimbotyi ezifana neembotyi kunye neetshizi (iimbotyi)
• Iinkozo ezipheleleyo (umz., irayisi yesonka esipheleleyo, irayisi yesonka esipheleleyo)
• Intlanzi enamafutha ( umz. isalmon, i-mackerel, i-herring)
• Amandongomane ( umz. amandongomane, iialmond, iicashews - kodwa ngaphandle kwetyuwa)
• Iziqhamo ezinefayibha eninzi (umz. iguava, imango, ibhanana)
• Imbewu yeChia kunye nembewu yeflakisi

Ukuzama ukufaka ezi zinto zokutya rhoqo ekutyeni kwakho kuya kunceda ukugcina amanqanaba e-cholesterol alungileyo.

Zithini iindlela zonyango kunye notshintsho kwindlela yokuphila?

Ugqirha wakho unokukunika amayeza okunciphisa i-cholesterol , njengee-statins.

Ikwacebisa ukuba kwenziwe utshintsho oluninzi kwindlela yokuphila olunokunceda ukonyusa amanqanaba e-HDL:

• Ukuzilolonga rhoqo: Oku kuquka ukuhamba okanye ukubaleka ubuncinane imizuzu engama-30 ngosuku.
• Ukungayisebenzisi imveliso yecuba: Kufuneka uyeke ngokupheleleyo ukutshaya icuba.
• Ukuhlala unesisindo esifanelekileyo.
• Yitya amafutha angaxutywanga endaweni yamafutha angaxutywanga: Amafutha angaxutywanga afumaneka kwizinto ezifana neoyile yekhokhonathi, ioyile yesundu, kunye neeoyile zezilwanyana. Amafutha angaxutywanga afumaneka kwioyile yomnquma kunye neeavokhado.

Zithini iziphumo ebezingalindelekanga zonyango?

Amayeza okwehlisa i-cholesterol ngamanye amaxesha anokubangela iziphumo ebezingalindelekanga ezincinci. Asinguye wonke umntu ozifumanayo, kodwa kulungile ukuba uzazi.

• Intloko ebuhlungu
• Ukuqaqamba kwemisipha
• Ukuqhinwa
• Isisu esimoshakele

Ukuba kwenzeka into efana nale, kufuneka uxelele ugqirha wakho. Emva koko angatshintsha amayeza okanye akunike elinye icebiso.

Ngaba isifo saseTangier singathintelwa?

Ekubeni esi sisifo semfuza, asinakuyithintela ukuba ikhule. Oku kuthetha ukuba ukuba unesi siphene kwimfuza yakho, asinakutshintshwa. Nangona kunjalo, ukuba unesi sifo, okanye ukuba ungumthwali waso, ungaqhagamshelana nomcebisi wezemfuza ukuze ufumane umngcipheko wokuba abantwana bakho basifumane njengelifa. Emva koko, xa ucinga ngemeko yemfuza yomnye umzali, unokufumana umbono ocacileyo ngamathuba okuba abantwana bakho basifumane.

Ukuba ndinesifo seTangier, kuza kwenzeka ntoni kwixesha elizayo?

Ingqikelelo yabantu abanesifo saseTangier idla ngokuba ntle, kodwa kuxhomekeke ekubeni iimpawu zakho zihambe kangakanani na. Njengakwesiphi na isifo, ukuxilongwa kwangethuba yeyona ndlela ilungileyo, ngaphambi kokuba iimpawu zibe nzima.

Nangona kungekho nyango luqinisekileyo loku okwangoku, kukho ithemba lokuba izinto ezifana nonyango lwezakhi zofuzo ziya kunceda kwixesha elizayo. Uphando lusaqhubeka.

Isifo saseTangier sihlala ixesha elingakanani?

Ekubeni esi sisifo esibangelwa lufuzo, sihlala ubomi bonke. Nangona kunjalo, ukuba sifunyenwe kwangethuba kwaye sihlolwe rhoqo, esi sifo sinokulawulwa kakuhle kwaye siphile naso.

Ndingazinyamekela njani?

Ukuba une-spleen ekhulisiweyo ngenxa yeSifo saseTangier, ngokuqinisekileyo kufuneka uyiphephe imidlalo yokudibanisa, kuba ukunxibelelana okunjalo kunokubangela ukuba i-spleen iqhekeke, nto leyo eyingozi.

Ukongeza, nezinye izinto ezibangela isifo sentliziyo kufuneka zilawulwe:

• Ukulawula uxinzelelo lwegazi oluphezulu .
• Ukuba unesifo seswekile , silawule kakuhle.
• Ukuphepha ukusebenzisa iimveliso zecuba.

Ndifanele ndimbone nini ugqirha?

Ukuba unesifo seTangier, kufuneka ubonane nomboneleli wakho wezempilo rhoqo . Ngale ndlela, ukuba iimpawu zakho ziya zisiba mandundu, ungathatha inyathelo ngokukhawuleza.

Ugqirha uhlala ejonga ezi zinto:

• Inkqubo yemithambo-luvo.
• Intliziyo.
• Amehlo.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa ubona ugqirha wakho, ungambuza imibuzo efana nale:

• Ngaba kufuneka ndithathe amayeza ukuze ndiphucule amanqanaba e-cholesterol yam?
• Ngaba kukho iqela lenkxaso abantu abanesifo saseTangier abanokujoyina?
• Ndifanele ndize kukubona kangaphi?

Ekubeni iSifo seTangier sinokuchaphazela amalungu ahlukeneyo omzimba, kungcono ukuba uhlolwe rhoqo amalungu onke. Kusenokufuneka ubone iingcali ezahlukeneyo. Thatha amayeza njengoko ugqirha wakho ekuyalele, kwaye wenze konke okusemandleni akho ukugcina ukutya okunempilo kunye nokuzilolonga rhoqo.

Izinto ezibalulekileyo ekufuneka sizikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, mandishwankathele ezinye zezinto ekufuneka uzikhumbule koko sithethe ngako.

• Isifo saseTangier sisifo esingaqhelekanga, esibangelwa yimfuza esibangela ukwehla okukhulu kwe-cholesterol elungileyo (i-HDL).
• Oku kunokubangela ukuba i-cholesterol embi (LDL) kunye namafutha aqokelele emzimbeni kwaye achaphazele amalungu anjengesibindi, i-spleen, iitoni, kunye nentliziyo.
• Iimpawu ziyahluka, kwaye abanye abantu banokuba neengxaki zemithambo-luvo, iingxaki zesikhumba, kunye neengxaki zokubona.
• Oku kubangelwa sisiphene kwi-gene ye-ABCA1 .
• Esi sifo sichongwa ngovavanyo lwegazi, uvavanyo lwemfuza, kwaye ngamanye amaxesha uvavanyo lwezicubu (ii-biopsy) .
• Nangona kungekho ndlela ithile yonyango, iimpawu zinokulawulwa ngokutya, utshintsho kwindlela yokuphila, amayeza, kunye notyando oluthile.
• Ukufunyanwa kwangoko kunye nonyango rhoqo kubaluleke kakhulu.

Ngoko ke, ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha. Hlala uphilile!

Isifo saseTangier , i-cholesterol ye-HDL, i-cholesterol ye-LDL, izifo zemfuza, ulawulo lwe-cholesterol, umngcipheko wesifo sentliziyo, i-ApoA1