Mene ne Iyaliyar Hypercholesterolemia?

Mutanen da ke fama da cututtuka (CAD) a lokacin da suka fara tsufa na iya haifar da matsalar haifuwa tare da cholesterol, musamman idan cutar ba ta da ciwon zuciya ya fara aiki a cikin iyali. Mafi yawan nau'i na yanayin kwayoyin da ke shafi cholesterol shine iyali hypercholesterolemia.

Kyakkyawan hypercholesterolemia na iyali shi ne ciwo na kwayar cutar wadda LDL cholesterol ke ɗaukewa daga daga lokacin haihuwar.

Mutanen da ke da alamar hypercholesterolemia na da babban haɗari na CAD, bugun jini , da cututtuka na jijiyoyin jini . A gaskiya ma, mutane da yawa waɗanda ke da mummunar haɗari na katsewa a lokacin da suka tsufa sun fita daga wannan yanayin.

Abin farin ciki, tare da cike da rashin lafiya don rage yawan ƙwayar cholesterol , hadarin cututtukan zuciya zai iya rage ƙwarai. Saboda wannan dalili, yana da muhimmanci a gano asalin iyali na hypercholesterolemia da wuri-wuri - kuma don tabbatar da cewa 'yan uwa na kowa da wannan yanayin kuma suna da jinin jinin su .

Dalilin

Iyalan hypercholesterolemia na iyali na iya haifar da ƙananan cututtukan kwayoyin, mafi yawansu sun shafi mai karɓa don LDL cholesterol. Lokacin da mai karɓar LDL ba ya aiki kullum, LDL cholesterol ba a yuwuwa da kyau daga jini. Sakamakon haka, LDL cholesterol ya gina cikin jini. Wadannan matsanancin LDL cholesterol matakan ƙara habaka atherosclerosis da cututtukan zuciya.

Kwayoyin cututtuka da suka haifar da hypercholesterolemia iyalansu zasu iya gado daga mahaifinsa, mahaifiyarsa, ko iyaye biyu. Mutanen da suka gaji mummunar daga iyayensu duka sune homozygous don hypercholesterolemia na iyali. Halin homozygous na iyalin hypercholesterolemia shine mummunar irin wannan cuta.

Yana rinjayar daya daga cikin mutane 250,000.

Mutanen da suka sami gagarumin kwayar cutar daga iyayensu guda daya ana kiransa heterozygous don hypercholesterolemia na iyali. Wannan mummunar cututtuka ne na cutar, amma har yanzu yana ƙara haɓakar cutar ta mutum. Kusan ɗaya daga cikin mutane 500 yana da haɗin gwiwar iyali na heterozygous.

Wannan mutane ne da yawa.

Fiye da maye gurbin daban daban daban daban da suka shafi raunin mai karɓa na LDL an gano su, kuma kowanne daga cikinsu yana rinjayar mai karɓar LDL kaɗan. Saboda wannan dalili, ba dukkanin hypercholesterolemia na iyali ba ne. Girma zai iya bambanta ƙwarai, dangane da irin nauyin maye gurbin mutum yana da.

Sanin asali

Doctors yi ganewar asali na iyali hypercholesterolemia ta hanyar auna matakan jinin jini, da kuma la'akari da tarihin iyali da kuma nazarin jiki.

Yin gwajin jini a cikin mutane tare da iyalin hypercholesterolemia sun nuna yawan jinsin cholesterol da kuma matakin LDL cholesterol. Duka yawan cholesterol da wannan yanayin shine mafi girma fiye da 300 MG / dl a cikin manya, kuma fiye da 250 MG / dl a yara. LlL cholesterol sau da yawa fiye da 200 mg / dl a cikin manya, kuma fiye da 170 MG / dl a cikin yara.

Matsayi na Triglyceride yawanci baya dauke da mutane a cikin wannan yanayin.

Duk wanda ke tare da hypercholesterolemia na iyalinsa yana iya zama dangi wanda yake da yanayin. Don haka tarihin iyali na cututtukan zuciya na zuciya na farko zai iya kasancewa mai karfi ga likita don la'akari da wannan ganewar.

Hakanan hypercholesterolemia na iyali na iya haifar da halayyar haɓaka mai yawa don ingantawa a kusa da gefe, gwiwoyi, tare da tendons, da kuma kewaye da abin bakin ciki. Wadannan kudaden kuɗi ana kiran su xanthomas . Cholesterol deposits a kan eyelids, da ake kira xanthelasmas , ma na kowa. A duk lokacin da mai haifa yana da xanthomas ko xanthelasmas, zane-zane na iyalin hypercholesterolemia ya kamata ya zo cikin tunanin likita.

Zamu iya yin ganewar asalin iyali na hypercholesterolemia idan matakan LDL cholesterol suna da tsayi sosai, matakan triglyceride na al'ada, kuma tarihin iyali ya dace. Idan ko dai xanthomas ko xanthelasmas kuma suna samuwa, za a iya la'akari da ganewar asali. Nazarin kwayoyin zai iya taimakawa (amma yawanci ba dole ba ne) a yin gwagwarmaya, kuma zai iya zama da amfani ga dalilai na ba da shawara.

Kwayar cutar na jijiyoyin da iyalin hypercholesterolemia ke farawa a lokacin yarinya. Saboda haka yara a cikin iyalan da ke fama da wannan cuta ya kamata a kula da su sosai don babban matakin LDL cholesterol a matsayin matashi na takwas. Idan za a daukaka matakan cholesterol, kamata yayi la'akari da farfado da statins.

Ruwa zuwa cuta na zuciya da jijiyoyin jini

Kafin kasancewa da kwayoyin magungunan kwayoyi , rashin lafiyar cutar marasa lafiya ba shi da kyau sosai a cikin mutane tare da hypercholesterolemia na iyali da kuma dangin su. A cikin babban binciken da aka gudanar a shekarun 1970 (kafin statins), kashi 52 cikin dari na mazan maza na marasa lafiya tare da hypercholesterolemia na iyali suna da ciwon zuciya a shekaru 60 (idan aka kwatanta da hadarin da ake tsammani na kashi 13), kuma kashi 32 cikin dari na 'yan uwa na da ciwon zuciya bayan shekaru 60 (idan aka kwatanta da hadarin da ake tsammani na kashi 9 cikin dari.) Wannan binciken ya kawo gida da yanayin wannan yanayi.

Jiyya

Ci gaba da yiwuwar, magungunan '' statin '' na biyu 'sun canza aikin kulawa da iyalin hypercholesterolemia. Kafin samun wadannan kwayoyi masu karfi, maganin wannan cuta ya buƙaci yin amfani da magungunan magungunan, ciki har da magungunan statin marasa 'yanci. Yayinda wannan tsarin miyagun ƙwayoyi ya rage yawan cututtukan marasa lafiya, nakasa zai iya zama da wuya a yi haƙuri kuma yana da wuya a gudanar.

Tare da ci gaba da karfin tsararraki mai mahimmanci-mai amfani (Lipitor), rosuvastatin (Crestor), ko simvastatin (Zocor) - dabarun maganin cutar hypercholesterolemia na iyali ya canza. An fara rigakafi tare da wani babban kashi na kwayar cutar kwayar halitta ta biyu. Wadannan kwayoyi kullum suna haifar da babban raguwa a cikin matakan LDL cholesterol, kuma yana iya haifar da shrinkage na asherosclerotic plates .

Nazarin da suka dubi kara ƙarin ƙwayoyi (musamman, Ezitimibe / Vytorin ), zuwa tsararrakin ƙarni na biyu sun kasa nuna wani ƙarin cigaba a sakamakon binciken asibiti. Saboda haka, a cikin marasa lafiya tare da heterozygous familial hypercholesterolemia (siffar "milder"), kashi-kashi, maganin miyagun ƙwayoyi guda daya tare da tsohuwar tsararrakin tsararraki sun kasance da shawarar da aka ba da shawarar.

A shekara ta 2015, FDA ta amince da sababbin sababbin kwayoyi- PCSK9 masu hanawa -ga marasa lafiya da iyalin hypercholesterolemia. Lokacin da aka kara wa ɗayan kwayoyi zuwa statin, za'a iya samun raguwa mai kyau a LDL cholesterol matakan. Matsayin da masu hana PCSK9 a magance heterozygous iyali familial hypercholesterolemia a halin yanzu ba a sani ba, tun da gwajin gwajin gwagwarmaya da nufin nuna cewa wannan haɗin haɓaka sakamako na asibiti yana gudana. Duk da haka, za'a iya ƙara wadannan kwayoyi masu karfi masu karfi idan sunadarai na LDL cholesterol ya kasance a kan maɗaukakin statin kawai.

Duk da yake matakan cholesterol da aka hawan ya kara yawan halayyar cututtukan zuciya a cikin mutanen da ke da hypercholesterolemia na iyali, wasu cututtukan ƙwayoyin zuciya na zuciya suna da mahimmanci. Sabili da haka mummunar mahimmanci game da maganin su shi ne sarrafa duk sauran matsalolin lamarin don cututtukan zuciya, musamman shan taba, kiba, rashin motsa jiki, da hawan jini .

Homozygous Form

A cikin marasa lafiya tare da homozygous (mai tsanani) nau'in iyali na hypercholesterolemia, ƙwayar cuta na jini yana da girman gaske cewa an ba da shawarar matsala sosai a lokacin da aka gano yanayin. Saboda matsanancin tayi a cholesterol da aka gani a cikin wadannan marasa lafiya, shawarwarin yanzu za su fara farawa tare da dukkanin kashi biyu da kuma mai hanawa PCSK9.

Ko da tare da wannan irin maganin miyagun ƙwayoyi, duk da haka, wasu lokuta lokuta cholesterol matakan sun kasance masu girma. A waɗannan lokuta, magani tare da apheresis na iya buƙatar kawo matakan cholesterol.

Takaitaccen

Kyakkyawan hypercholesterolemia na iyali shine babban cibiyoyin gado na cholesterol metabolism. Mutane tare da hypercholesterolemia na iyalin suna buƙatar magani mai tsanani don rage matakan cholesterol da kuma kula da wasu matsalolin cututtukan zuciya, don rage hadarin cututtukan zuciya. Har ila yau, yana da mahimmanci ga iyalansu su gwada don wannan yanayin.

Sources:

Stone NJ, Levy RI, Fredrickson DS, Ver J. J. Coronary maganin cutar a 116 zumunta tare da iyali iyali II hyperlipoproteinemia. Yanayin 1974; 49: 476.

Wiegman A, Rodenburg J, de Jongh S, et al. Tarihin iyali da cututtukan zuciya na iyali cikin hypercholesterolemia: bayanai a fiye da yara 1000. Tsarin 2003; 107: 1473.

Kavey RE, Allada V, Daniels SR, et al. Rawanin cututtuka na zuciya na jini a cikin marasa lafiya na likitancin yara: wani bayani na kimiyya daga Cibiyar Harkokin Kasuwanci na Ƙungiyar Zuciya ta Amurka akan Ƙungiyar Jama'a da Rigakafin Lafiya; Hukumomin kan cutar cututtukan zuciya a cikin Young, Epidemiology and Prevention, Nutrition, Ayyuka na jiki da Metabolism, bincike mai zurfi na jini, Nursing cardiovascular, da kuma cututtukan zuciya da zuciya; da kuma Ƙungiyar Ayyukan Tsarin Gudanar da Ƙungiyoyin Tsarin Mulki a kan Bincike na Neman Kulawa da Kwarewa: Cibiyar Ilimin Harkokin Ilimin Harkokin Yara da Amirka ta amince. Yanayin 2006; 114: 2710.

Sabatine MS, Guigliano RP, Wiviott SD, et al. Aminci da aminci na evolocumab a rage lipids da na zuciya da jijiyoyin. N Engl J Med 2015; DOI: 10.1056 / NEJMOA1500858.