I-Chylomicronemia syndrome

I-Chylomicronemia syndrome yisifo lapho umzimba ungawaphuli kahle amafutha (lipids). Lokhu kubangela izinhlayiya zamafutha ezibizwa ngama-chylomicrons ukuba zakhe egazini. Lesi sifo sidluliselwa ngemindeni.

I-Chylomicronemia syndrome ingenzeka ngenxa yesifo esingajwayelekile sezakhi zofuzo lapho i-protein (enzyme) ebizwa nge-lipoprotein lipase (LpL) yephukile noma ilahlekile. Kungabangelwa futhi ukungabikho kwento yesibili ebizwa nge-apo C-II, eyenza i-LpL isebenze. I-LpL ivame ukutholakala emafutheni nasemisipha. Kuyasiza ukudiliza ama-lipids athile. Lapho i-LpL ilahlekile noma iphukile, izinhlayiya zamafutha ezibizwa ngama-chylomicrons zakha egazini. Lokhu kwakhiwa kubizwa nge-chylomicronemia.

Amaphutha ku-apolipoprotein CII ne-apolipoprotein AV angadala isifo futhi. Kungenzeka ukuthi kwenzeke lapho abantu ababekelwe ukuthi babe ne-triglycerides ephezulu (njengalabo abane-hyperlipidemia yomndeni noma i-hypertriglyceridemia yomndeni) eba nesifo sikashukela, ukukhuluphala ngokweqile noma ukuvezwa kwemithi ethile.

Izimpawu zingaqala ebuntwaneni futhi zifaka:

• Ubuhlungu besisu ngenxa ye-pancreatitis (ukuvuvukala kwamanyikwe).
• Izimpawu zokulimala kwemizwa, njengokulahlekelwa umuzwa ezinyaweni noma emilenzeni, nokulahleka kwememori.
• Okudliwayo okuphuzi kokuqukethwe okunamafutha esikhunjeni okubizwa ngokuthi ama-xanthomas. Lokhu kukhula kungavela ngemuva, ezinqeni, ematheni ezinyawo, noma emadolweni nasezindololwaneni.

Ukuhlolwa komzimba nokuhlolwa kungakhombisa:

• Isibindi esikhulisiwe nobende
• Ukuvuvukala kwamanyikwe
• Amafutha afakwa ngaphansi kwesikhumba
• Kungenzeka ukuthi kunamafutha afakwa ku-retina yeso

Kuzovela ungqimba olu-creamy lapho igazi liphotha emshinini waselebhu. Lolu ungqimba lubangelwa ama-chylomicrons egazini.

Izinga le-triglyceride liphakeme kakhulu.

Ukudla okungenamafutha, okungenawo utshwala kuyadingeka. Kungase kudingeke uyeke ukuthatha imithi ethile engenza izimpawu zibe zimbi kakhulu. Ungayeki ukuthatha noma imuphi umuthi ngaphandle kokuqala ukhulume nomhlinzeki wakho wezokunakekelwa kwempilo. Izimo ezinjengokuphelelwa ngamanzi emzimbeni nesifo sikashukela kungenza izimpawu zibe zimbi kakhulu. Uma kutholakala, lezi zimo zidinga ukwelashwa nokulawulwa.

Ukudla okungenamafutha kunganciphisa izimpawu kakhulu.

Uma ungelashwa, ama-chylomicrons amaningi angaholela ekuhlaselweni yi-pancreatitis. Lesi simo singaba buhlungu kakhulu futhi sisongele nokuphila.

Funa ukunakekelwa kwezokwelapha ngokushesha uma unezinhlungu esiswini noma ezinye izimpawu zokuxwayisa i-pancreatitis.

Shayela umhlinzeki wakho uma unomlando womuntu siqu noma womndeni wamazinga aphezulu we-triglyceride.

Ayikho indlela yokuvimbela umuntu ekutholeni lesi sifo.

Ukuntuleka kwe-lipoprotein lipase ejwayelekile; Isifo se-hyperchylomicronemia syndrome, Uhlobo I hyperlipidemia

• I-hepatomegaly
• Xanthoma emadolweni

UGenest J, ukuphazamiseka kweLibby P. Lipoprotein nesifo senhliziyo. Ku: Zipes DP, Libby P, Bonow RO, Mann DL, Tomaselli GF, Braunwald E, ama-eds. Isifo Senhliziyo SikaBraunwald: Incwadi Yemithi Yezinhliziyo Nemithambo. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2019: isahluko 48.

URobinson JG. Ukuphazamiseka kwe-lipid metabolism. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 195.