
famili hyper collustrolamia

rakthathile uyarnna collustroll alavu, prathyekichu kuranja saandrathayulla lipoprotein collustroll (ldl collustroll), rakthathile uyarnna alavu, aadyakaala hridaya sambandhamaaya rogangal ennivayaal savisheshamaaya oru janithaka vaikalyamaan familial hyper collustrolamia (efh). ettavum saadhaaranamaaya mutationukal karalile pravarthanakshamamaaya ldl resepterukalude ennam kuraykkukayo allengil koshatthinte uparithalathilekku shariyaayi pravartthikkaan orikkalum pookaattha asaadhaaranamaaya ldl resepterukal uthpaadippikkukayo cheiyunnu (asaadhaaranamaaya kadathu). efh ulla vyakthikalil adisthaana shareera biochemistry alpam vyathyasthamaayathinaal, avarude uyarnna collustroll alavu efh illaathavaril (dayattari modification, stattin gulikakal enniva polullava) saadhaaranayaayi kooduthal phalapradamaaya collustroll niyanthrana reethikalodu prathikarikkunnilla. ennirunnaalum, chikitsa (uyarnna stattin dosukal ulppede) saadhaaranayaayi falapradamaanu.
effchine type 2 familial dyslipidemiayayi tharamthirichittundu. anchu tharam familial dyslipidemiayundu (upavibhagangal ulppedaathe), oronnum marria lipid profile janithaka asaadhaaranathayilum ninnu tharamthirickunnu. udaaharanathinu, uyarnna ldl (palappozhum ldl risapttar takaraar kaaranam) type 2 aanu. mattullavayil chailomikron metabolism, triglyceride metabolism, vldl, idl polulla collustroll adangiya mattu kanangalude metabolism ennivayile vaikalyangal ulppedunnu.
100 muthal 200 vare aalukalil oraalkk ldl risapttar proteine encode cheiyunna ldlr jeenil mutationukal undu, ithu saadhaaranayaayi ldl neekkam cheiyunnu, allengil resepterumaayi bandhippikkunna eldiellinte bhagamaaya apolypoprotein bii (apob); mattu jeenukalile mutationukal apoorvamaanu, ennaal ariyendathu pradhaanamaan, "pcsc 9" leeii function mutation, ldl resepterukalude molecular kathrika kuranja ldlr labhyathaykk kaaranamaayi. ldlr" jeeninte oru asaadhaarana pakarpp (heterosaigas) ulla aalukalkk ldl-collustrollinte rakthathile alavu kuraykkunnathinu pcsk 9 ensaimine thadayunna marunnu valare falapradamaanu, 30 muthal 40 vayass vare praayamullappol hridaya sambandhamaaya asukhangal undakam. rund asaadhaarana pakarppukal ("homocygus") kuttikkaalathu gurutharamaaya hridaya sambandhamaaya rogangalkk kaaranamakum. mikka raajyangalilum 1:250 aalukalil sambhavikkunna oru autosomal dominent paattenil paarambaryamaayi labhikkuna oru saadhaarana janithaka thakaraaraan heterosaigas fh; 300,000 aalukalil oraalil sambhavikkunna homocygus fh valare apoorvamaanu.
heterosaigas efh saadhaaranayaayi collustrollinte alavu kuraykkunna stattinukal, byle assid sequestrantukal allengil mattu lipid kuraykkunna ejantukal enniva upayogichu chikilsikkunnu. puthiya kesukalkku saadhaaranayaayi janithaka kaunsiling nalkunnu. homocygus efh palappozhum medical therapyode prathikarikkunnilla, koodaathe ldl apherasis (dialysisinu samanamaaya reethiyil ldl neekkam cheyyuka), idaykkide karal maattivaykkal ennivayulppede mattu chikilsakal aavashyamaayi vannekkaam.
adayaalangalum lakshanangalum.
shaareerika adayaalangal.
uyarnna collustroll alavu saadhaaranayaayi lakshanangalonnum undakkunnilla. collustroll adangiya kozhuppinte manja nikshepam shareerathile vividha sthalangalil kaananakum, athaayath kanpolakalkk chuttum (santelasma palpebraram ennariyappedunnu), airisinte puram marjin (arcus senilis corney ennariyappedunnu), kaikal, kaimuttukal, kaalmuttukal, kaalukal ennivayude tendonukalil, prathyekichu akkilles tendonil (tendon santoma ennariyappedunnu).
hridayasambandhamaaya asukhangal.
dhamanikalude chuvarukalil collustroll thwarithappeduthunnathu hridayasambandhamaaya asukhangalude adisthaana kaaranamaaya rakthapravaahathilekk nayikkunnu. effchile ettavum saadhaaranamaaya prashnam, saadhaarana janasamkhyayil pratheekshichathilum valare cheruppatthil thanne coronary artari disease (hridayam vitharanam cheiyunna coronary aarttarikalude rakthapravaham) vikasikkunnu ennathaanu. ithu aanjina pectories (nench vedana allengil advaanathil irukkam) allengil hridayaaghaathathilekku nayichekkaam. saadhaaranayaayi, thalachorile dhamanikale baadikkunnilla; ithu shanikamaaya ischemic aakramanangalilekko (shareerathinte oru vashathe balaheenathayude hraswa episodukalilekko samsaarikkanulla kazhivillaaymayilekko) allengil idaykkide strokkilekko nayichekkaam. peripheral artari occlusive rogam (kaalukalude dhamanikalude thadassam) pradhaanamaayum pukavalikkunna efh ullavarilaanu sambhavikkunnath; ithu nadakkumbol kaalakkutty peshikalil vedanayundaakkukayum athu vishramathode (edaykkideyulla klaudikkeshan) pariharikkappedukayum kaalukalilekkulla raktha vitharanam kurayunnathu moolamulla prashnangalum (gangreen polullava) undaakkunnu.
pukavalikkunnavar, prameham, uyarnna rakthasammardham, hridayasambandhamaaya asukhangalude kudumbacharitram enniva ullavaril, praayathinanusarichu rakthapravaham varaanulla saadhyatha kooduthalaanu.
roganirnayam.
eee rogamullavaril ekadesham 85 sathamaanavum roganirnayam nadathiyittillaathinaal lipid kuraykkunna chikilsakal labhikkunnilla. shaareerika parisodhanayude kandethalukal oru doctore efh roganirnayam nadatthaan sahayikkum. efh ulla vyakthikalude 20-40% ll tendon santomas kaanapedunnu, avaa eee avasthaykku pathogonomonic aanu. oru santelasma allengil corneal arcus kaananakum. eee saadhaarana adayaalangal roganirnayathe pinthunaykkunnundena nirddishtamallaatha kandethalukalaan.
lipid alavukal.
aarogya insurance allengil thozhil aarogyathinaayulla aarogya parisodhanayude bhaagamaayi collustrollinte alavu nirnnayikkaam, santelasma, santoma, arcus thudangiya baahya shaareerika adayaalangal shradhayilppedumbol, hridaya sambandhamaaya rogathinte lakshanagal vikasikkumbol allengil oru kudumbaamgatthinu efh undennu kandethumbol. fredriksan vargeekaranathil hyperlipoproteinia type aii. aii. eiii. yumayi poruthappedunna oru paatten saadhaaranayaayi kaanapedunnu motham collustrollinte uyarnna alavu, kuranja saandrathayulla lipoproteente (ldl) ganyamaayi uyarnna alavu, uyarnna saandrathayulla lipoproteente (echdl) saadhaarana alavu, triglycerideukalude saadhaarana alavu. motham collustroll alavu 350-550 mg/dl heterosaigas fh-nte saadhaaranamaanu, athesamayam motham collustroll alavu 650-1000 mg/dl homocygus fh-nte saadhaaranamaanu. ldl saadhaaranayaayi 75-aamm sathamaanathinu mukalilaanu, athaayath aarogyamulla janasamkhyayude 75 sathamaanathinum ldl level kuravaayirikkum. ponnathadiyulla efh ullavaril collustrollinte alavu ganyamaayi uyarnnekkaam.
mutation vishakalanam.
otappetta uyarnna ldl, klinikkal maanadandangalude (raajyathinanusarichu vyathyaasappedunna) adisthaanathil, ldl risapttar mutationukal, apob mutationukal, "pcsc 9" ennivaykkulla janithaka parisodhana nadatthaam. 50 muthal 80 sathamaanam vare kesukalil mutationukal kandethunnu; mutation illaathavarkku palappozhum uyarnna triglyceride alavu undaakunnu, vaasthavathil metaboolik syndrome moolamulla samyojitha hyperlipidemia polulla uyarnna colostrollinu mattu kaaranangalundaakam.
deferential diagnosis.
efh kudumba samyojitha hyperlipidemia, polysenic hyper colostrolemia ennivayil ninnu verthirichariyanam. lipidinte alavum saanthomaattayude saannidhyavum roganirnayam sthireekarikkum. akaala rakthapravaham, santomas ennivaykkoppam undakavunna rund apoorva avasthakalaanu citostirolemiyum cerebrotendinus santhomatosis. gerarali, collustroll alavu mrugangalude uravidamaaya colostrollinu pakaram plaant staanol adinjukoodunna efh, citostiroleemiya ennivayulla rogikale verthirikkilla. eee avasthayude chikitsa lipid kuraykkunna ejant esettimib upayogichu valare falapradamaanu. randaamathe avasthayil neurological allengil cycatric prakadanangal, timiram, vayarilakkam, asthikooda asaadhaaranathakal ennivayum ulppedaam. eee avasthayil rakthathile collustroll vardhikkunnillenkilum tendonil collustroll derivative adinjukoodunnathu effchine anukarikkaan kazhiyum.
janithakashasthram.
ldlr" function mutationukalude nashtam (janasamkhyaye aashrayich 250 ll 1 vyaapanam), function mutationukalude apob nashtam (1000 ll 1 vyaapanam), "pcsc 9" function mutationukalude nettam (2500 ll 1 ll kuravu), "ldlr 1" ennivayaanu effchile ettavum saadhaaranamaaya janithaka vaikalyangal. effchumaayi niravadhi samaanathakalullathum tissuekalil collustroll adinjukoodunnathum aaya anubandha rogamaaya citostirolemiya "abcg 5", "abcg 8" mutationukal moolamaanu.
ldl risapttar.
ldl risapttar jeane chromosome 19 (19p13.1-13.3) nte hraswa kaikalilaanu sthithi cheiyunnathu. ithil 18 exonukalum 45 keey. bii. yum adangiyirikkunnu, protein jeane uthppannathil 839 amino aasidukal pakwathayulla roopathil adangiyirikkunnu. effechinte oru asaadhaarana pakarpp (heterosaigot) ekadesham 40 sathamaanam kesukalilum 50 vayass aakumbozhekkum hridayasambandhamaaya asukhangalkku kaaranamaakunnu. rund asaadhaarana pakarppukal (homocygot) ullathinaal kuttikkaalathu athinte sankeernathakal ulppede thwarithappeduthiya rakthapravaham undaakunnu. plasma ldl levelukal ldl resepterinte (ldlr) pravartthanavumaayi vipareethamaayi bandhappettirikkunnu. homocygottukalkku ldlr pravartthanam 2 sathamaanathil thaazheyaan, athesamayam heterosaigottukalkku myootteshante swabhaavathe aashrayich risapttar pravartthanam 2-25% aayathinal vikalamaaya ldl prosessing undu. aayirathiladikam vyathyastha mutationukal ariyappedunnu.
ldlr" mutationukal kaaranam effechinte anchu pradhana klaasukalunda
apolypoprotein bii.
apolypoprotein bii, athinte apob 100 roopathil, lipoprotein kanikayude pradhana apolypoprotein allengil protein bhagamaanu. randaamathe chromosomilaanu (2p24-p23) ithinte jeane sthithicheyyunnathu, ithinu 46.2 keey. bii neelamundu. efh palappozhum aarr 3500 kyu yude mutationumaayi bandhappettirikkunnu, ithu 3500 sthaanathu arjinain glutamine upayogichu maattisthaapikkaan kaaranamaakunnu. mutation sthithicheyyunnathu proteente oru bhagathaanu, athu saadhaaranayaayi ldl resepterumaayi bandhippikkunnu, myootteshante falamaayi binding kurayunnu. ldlr" pole, asaadhaarana pakarppukalude ennam hyper collustroleemiyayude theevratha nirnnayikkunnu.
pii. sii. ezz. keey 9.
proprotein convertase subtilisin/kexin type 9 ("pcsk 9") jeenil mutationukal autosomal dominentumaayi (athaayath.iii. 2003leeii oru reportil oru asaadhaarana pakarpp maathram aavasyamaanu) eph. echu. aadyathe chromosomil (1p34.1-p32) sthithi cheiyunna eee jeane karalil prakadippikkunna 666 amino assid proteine encode cheiyunnu. karal koshangalile ldl resepterukalude ennam kuraykkunnathiloodeyaanu pcsk 9 pradhaanamaayum effchinu kaaranamaakunnathenn abhipraayappettittund.
ell. dii. ell. aarr. pii. 1.
ell. dii. ell. aarr. pii. 1" ennum ariyappedunna "aarr. echu" jeenil asaadhaaranathakal aadyamaayi report cheyyappettathu 1973laanu. mattu kaaranangalkk vipareethamaayi, eph. echu vikasippikkunnathin jeeninte rund asaadhaarana pakarppukal aavasyamaanu (autosomal resussive). proteinile mutationukal hrasvamaaya protein uthppaadanathinu kaaranamaakunnu. athinte yadhaartha pravartthanam vyakthamallengilum ldl resepterum clathrin pothinja kuzhikalum thammilulla bandhatthil ithu oru punk vahikkunnathayi thonnunnu. autosomal resussive hyper colostrolemia ulla aalukalkk "ldlr"-heterosaigottukalekkaal kadinamaaya rogamundengilum "ldlr"-homocygottukalekkaal kadinamalla.
pathophysiology.
ldl collustroll saadhaaranayaayi shareerathil randara divasathekku sanjarikkunnu, thudarnnu ldl collustrollinte apolypoprotein bii bhagam karal koshangalile ldl resepterumaayi bandhippikkukayum athinte grahanathinum dahanathinum kaaranamaakukayum cheiyunnu. eee prakriya rakthachamkramanavyavasthayil ninnu ldl neekkam cheiyunnathinu kaaranamaakunnu. karal collustrollinte samanvayathe echmji-qoo reductase pathayil adichamarthunnu. effchil, ldl risapttar pravartthanam kurayukayo illaathirikkukayo cheiyunnu, ldl sharashari 4.5 divasathekku sanjarikkunnu, athinte falamaayi mattu lipoproteenukalude saadhaarana alavinoppam rakthathile ldl collustrollinte alavu ganyamaayi vardhikkunnu. apobinte" mutationukalil, resepterumaayulla ldl kanangalude binding kurayunnathu ldl collustrollinte alavu vardhippikkunnathinu kaaranamaakunnu. pcsk9", "arh" ennivayude mutationukalil mutation ldl risapttar function engane kaaranamaakunnuvenn ariyilla.
ellah aalukalilum oru paridhivare rakthapravaham undengilum, efh ulla aalukalkk eldiellinte adhika alavu kaaranam thwarithappeduthiya rakthapravaham vikasichekkaam. rakthapravaahathinte alavu ekadesham ippozhum prakadippikkunna ldl resepterukalude "ennatheyum" eee resepterukalude "pravartthanatheyum" aasrayichirikkunnu. effechinte pala bhinnaroopangalilum, risapttar pravartthanam neriya thothil thakararilaakukayum ldl alavu thaarathamyena kuravaayirikkukayum cheyyum. kooduthal gurutharamaaya homocygus roopangalil, risapttar ottum prakadippikkunnilla.
oru vyakthikk rakthapravaham vikasikkumbol adhika apakadasaadhyatha gadakangal saadhaaranayaayi pravarthikkunnuvennu efh kohorttukalekkurichula chila padanangal soochippikkunnu. pukavali, uyarnna rakthasammardham, prameham thudangiya classic apakada gadakangalkku purame, prothrombin jeenile (jii20210eiii) oru saadhaarana asaadhaaranatha efh ullavaril hridayasambandhamaaya sambhavangalude saadhyatha vardhippikkunnuvennu janithaka padanangal theliyichittundu. uyarnna alavil lipoprotein (eiii) ischemic hrudrogathinulla adhika apakada gadakamaanennu niravadhi padanangal kandethi. angiotensin-converting ensaiminte (easu) oru prathyeka genotype ulla aalukalilum apakadasaadhyatha kooduthalaanennu kandethi.
screening.
ariyappedunna efh ullavarude kudumbaamgangalkkidayil collustroll parisodhanayum janithaka parisodhanayum chelavu kuranjathaanu. 16-aamm vayassil saarvathrika parisodhana polulla mattu thanthrangal 2001-ll nirddeshikkappettu. ennirunnaalum, randaamathethu hraswakaalathekku chelavu kuranjathaayirikkaam. 16 vayassil thaazheyulla screening thettaaya positteevinte asveekaaryamaaya uyarnna nirakkilekku nayikkumennu karuthappettu.
2007 leeii oru mettaa vishakalanathil "familial hyper colostroleemiyaykkaayi kuttikaleyum maathapithaakkaleyum parishodhikkunnathinulla nirddishta thanthram rund thalamurakalil oresamayam eee thakaraarinte medical prathyaaghaathangal thadayunnathil ganyamaaya swaadheenam cheluthumennu kandethi."" motham collustrollinte upayogam maathram 1 muthal 9 vayass vare praayamulla efh ullavarum illaathavarumaaya aalukalkkidayil vivechanam kanikkum."
pinchukunjungalude parisodhana nirddeshikkappettittund, oru vayass praayamulla 10,000 peril nadatthiya pareekshanatthinte phalangal 2016-ll prasidheekarichu. screening chelavu kuranjathaano, kudumbangalkk sveekaaryamaano ennu kandethaan pravartthanam aavasyamaanu. effchinaayi positteev collustroll screenine thudarnnu janithaka parishodhanaykk janithaka kaunsiling sahayikkum.
chikitsa.
heterosaigas efh.
efh saadhaaranayaayi stattinukal upayogichaanu chikilsikkunnathu. karalile hydroxymethylgluteril qoo reductase (echmji-qoo-reductase) enna ensaimine thadayunnathiloodeyaanu stattinukal pravartthikkunnathu. ithinodu prathikarikkunnathin, karal kooduthal ldl resepterukal uthpaadippikkunnu, ithu rakthathil ninnu rakthachamkramanam cheiyunna ldl neekkam cheiyunnu. chilappol byle assid sequestrantukal (kolastiraamin allengil kolasttipol), nicotinic assid thayyaareduppukal allengil fibrateukal thudangiya mattu marunnukalodoppam aadu-oonn therapy aavashyamaanenkilum stattinukal kolastrolinteyum eldlinteyum alavu phalapradamaayi kuraykkunnu. collustrollinte alavu niyanthrikkumbozhum apakadasaadhyatha kurachukoodi uyarunnathinaal hridayasambandhamaaya rogangalkkulla mattu apakada gadakangalude niyanthranam aavasyamaanu. efh ulla oru vyakthiye stattinukal upayogichu chikilsikkaanulla theerumaanam saadhaarana apakadasaadhyatha pravachana upakaranangale adisthaanamaakkiyullethaayir professional maargganirddeshangal shupaarsha cheiyunnu (framingham hridaya padanatthil ninnu uruthirinjava polullava), kaaranam avaa hridaya sambandhamaaya rogangalude apakadasaadhyathaye kurachukaanum; janasamkhyayude mattu bhaagangalil ninnu vyathyasthamayi, effchinu jananam muthal uyarnna alavil collustroll undu, ithu orupakshe avarude aapekshika apakadasaadhyatha vardhippikkunnu. stattinukal avatharippikkunnathin munbu, clofibrate (palappozhum pithasanchikku kaaranamakunna oru pazhaya fibrate), probucol (prathyekichu valia saanthomakalil), thyroxine enniva ldl collustrollinte alavu kuraykkaan upayogichirunnu.
kudalil collustroll agiranam cheiyunnathu thadayunna esettimaibu cherkkunnath kooduthal vivaadaparamaanu. ithu ldl collustroll kuraykkumbol, inttima-media kanam ennariyappedunna rakthapravaahathinte adayaalam mechappeduthunnathaayi thonnunnilla. ithinartham effchil esettimibinu mothatthilulla prayojanamillennu ariyilla.
effchil collustroll kuraykkunnathiloode marananirakk kurayunnuvennu nerittu kaanikkunna oru padanavum illa. pakaram, polysenic hyper colostrolemia ullavaril nadatthiya niravadhi pareekshanangalil ninnaan (ithil paarambaryatthinu cheria pankundu) nettatthinte thelivukal labhikkunnath. ennittum, oru valia britiish rajistriyekkurichulla 1999 leeii nireekshana patanam kaanikkunnath 1990 kalude thudakkathil stattinukal avatharippichappol efh ulla aalukalil marananirakk mechappedaan thudangiyirunnu ennaanu.
stattinukal upayogichu efh chikilsikkunnathu coronary hrudrogam moolamulla maranathil 48 sathamaanam kuravundaakkunnuvennu oru koottam patanam soochippikkunnu, ithu saadhaaranakkaare apekshichu coronary hrudrogam moolam aalukal marikkanulla saadhyatha kuravaanu. ennirunnaalum, aaa vyakthikk ithinakam thanne coronary hrudrogam undaayirunnengil 25 sathamaanam kuravundaayi. efh neratthe thirichariyunnathinteyum stattinukal upayogichu chikilsikkunnathinteyum praadhaanyam phalangal oonnipparayunnu.
pcsk9 nethiraaya monoclonal aantibodikalaaya alirokumab, evalokumabu enniva bhakshanakramathinu anubandhamaayi prathyekamaayi soochippikkukayum ldl collustroll kooduthal kuraykkenda heterosaigas famili hyper collustrolamia ulla muthirnnavarude chikilsaykkaayi paramavadhi sahikkavunna stattin therapy aayi soochippikkukayum cheiyunnu.
aduthide heff chikilsaykkaayi inclisiraan amgeekarichittundu.
efh ulla rogikalkku pcsk 9 nethiraaya monoclonal aantibodikal valare phalapradamaanenkilum, paarantaral administration rogiyude sveekaaryatha kuraykkunnu. klinikkal pareekshanangalil (ghattam 2 umm ghattam 3 umm) niravadhi ooral pcsc 9 padikkappettittund, avaa hyper collustroleemiyayude chikilsayaayi udan sweekarikkum.
homocygus efh.
homocygus efh chikilsikkaan budhimuttaanu. ldl (loow density lipoprotein) resepterukal kuranja pravarthanakshamamaanu. uyarnna alavil stattinukal, palappozhum mattu marunnukalumayi samyojippichu, lipidinte alavu mechappeduthunnathinna mithamaayi falapradamaanu. collustrollinte alavu kuraykkunnathil medical therapy vijayikkunnillenkil, ldl apherasis upayogikkaam; ithu dialysis anusmarippikkunna oru prakriyayil rakthapravaahathil ninnu ldl filter cheiyunnu. karal maattivaykkalinu valare kadinamaaya kesukal pariganikkaam; ithu saadhaaranayaayi pravarthanakshamamaaya ldl resepterukalulla oru karal nalkunnu, ithu collustrollinte alavu vegathil mechappeduthunnathilka nayikkunnu, pakshe eathenkilum khara avayava traansplaant (nirasikkal, anubadhakal allengil nirasikkal adichamarthaan aavashyamaaya marunninte paarshwafalangal) polulla sankeernathakal undakanulla saadhyathayund. mattu shasthrakriya saankethikavidyakalil paarshyal iliyal baipas sarjari ulppedunnu, athil poshakangalude agiranam kuraykkunnathinu cheria malavisarjjanathinte oru bhagam marikadakkunnu, athinaal collustroll, koodaathe portal siraye vena kaavayumayi bandhippichu kudalile poshakangalulla rakthathe anuvadikkunna porttakkaval shund sarjari karaline marikadakkaan.
microsomal triglyceride transfer proteente inhibittaraaya lomitapaidinu 2012 desemberil us fda homocygus famili hyper collustroleemiyayude chikilsaykkulla oru anatha marunnayi amgeekaaram nalki. homocygus famili hyper collustroleemiyayude chikilsaykkaayi apolypoprotein bii jeeninte pravartthanatthe thadayunna mipomersoninum 2013 januvariyil us fda amgeekaaram nalki. jeane therapy bhaaviyile oru saadhyamaaya badalaanu.
angiopoitin polulla protein 3 neey thadayunna monoclonal antibodiyaaya evinakumab, anubandha chikilsaykkaayi 2021 ll amgeekarichu.
kuttikal.
efh jananam muthal undennum rakthapravaahathil mattangal jeevithathinte thudakkathil thanne aarambhikkaamennum kanakkiledukkumbol, kaumaarakkaareyo kaumaarakkaareyo polum muthirnnavarkkaayi aadyam vikasippicha ejantukal upayogichu chikilsikkendathu chilappol aavasyamaanu. suraksha aashankakal kaaranam, pala doctormaarum kuttikalil licensullathinaal byle assid sequestrantukalum phenophybrate upayogikkaan eshtappedunnu. ennirunnaalum, stattinukal surakshithavum phalapradavumaanennu thonnunnu, muthirnnavareppole muthirnna kuttikalilum ithu upayogikkaam.
ettavum kooduthal apakadasaadyathayulla homocygus efh ulla kuttikalil ldl apherasis, stattinukal, collustroll agiranam cheiyunna inhibittarukal ennivayulla aadyakaala kompineshan therappiyekkurichu 2006-ll oru vidagdha paanal upadeshichu.
epidemiology.
ekadesham 10 dasalaksham aalukalaanu eph. echu. yude aagola vyaapanam. padicha mikka janasamkhyayilum, heterosaigas efh ekadesham 1:250 aalukalil sambhavikkunnu, pakshe ellaavarkkum rogalakshanangal undakunnilla. homocygus efh ekadesham 1:1,000,000 ll sambhavikkunnu.
"ldlr" mutationukal chila janasamkhyayil kooduthalaayi kaanapedunnu, orupakshe "foundar ephakt" ennariyappedunna oru janithaka prathibhasam kaaranam-avaa sthaapichathu oru cheria koottam vyakthikalaanu, avaril onno athiladhikamo perr myootteshante vaahakanayirunnu. aafrikkan, franch canadian, lebanese kristhyan, phiin ennee vibhagangalil efh prathyekichum saadhaaranamaakkunna prathyeka mutationukalude uyarnna nirakkund. "maddhya europil "apob" mutationukal kooduthalaayi kaanapedunnu.
charithram.
norwegian doctor doow. kaal mullar 1938-ll shaareerika lakshanagal, uyarnna collustroll alavu, autosomal aadhipathya anantharaavakaasham enniva aadyamaayi vivarichu. 1970 kaludeyum 1980 kaludeyum thudakkathil, effechinte janithaka kaaranam doow. joseph ell vivarichu. goldstainum doow. maikkal ezz. texes, dallas braun. thudakkathil, echmji-qoo reductasinte vardhicha pravartthanam avar kandethi, ennaal efh ulla aalukalil ithu valare asaadhaaranamaaya collustrollinte alavu vishadeekarikkunnillenn padanangal kaanikkunnu. ldl athinte resepterilekku bandhippikkunnathilekkum mettabolisatthil vaikalyamulla bandhatthinte phalangalilekkum shradha maatti; ithu effechinte adisthaana samvidaanamaanennu thelinju. thudarnnu, proteinile niravadhi mutationukal seekwansinghiloode nerittu thiricharinju. ldl resepterine kandethiyathinum lipoprotein mettabolisatthil athinte swaadheenathinum avar pinneedu 1985 leeii vaidyashaasthrathinulla nobal sammanam nedi.
baahya linkukal.
 

