Wan prɔblɛm we bɔku pipul dɛn gɛt dɛn tɛm ya na di bɔku bɔku fat lɛk kɔlɔstrel ɛn triglisrayd na di blɔd. Bɔt sɔntɛnde dɛn fat lɛvɛl ya, mɔ di triglisɛrɛyd lɛvɛl, nɔ kin bɔku, bɔku bɔku tɛm pas aw i kin bi. Di rizin fɔ dis kin bi wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we mama ɛn papa kin pas. Tide wi de tɔk bɔt wan pan dɛn kayn tin ya, we na Familial Hyperchylomicronemia Syndrome, ɔ FCS fɔ shɔt tɛm. Pan ɔl we dis na tɔpik we kɔmpleks smɔl, lɛ wi ɔndastand am simpul wan.
Fɔ tɔk am simpul wan, wetin na FCS?
FCS na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we yu kin gɛt frɔm yu mama ɛn papa. Pɔsin we gɛt dis sik nɔ kin ebul fɔ brok, ɔ dayjɛst, fat, mɔ di triglisɛrɛyd .
Imajin se wi bɔdi gɛt smɔl faktri we de brok fat. We wi de tɔk bɔt mɛrɛsin, dis na wan ɛnzaym we dɛn kɔl lipoprotein lipase (LpL) . Na pɔsin we gɛt FCS, dis ‘faktɔri’ nɔ de wok fayn, ɔ i nɔ de wok atɔl.
Dis kin mek di fat we de na di it we wi de it, we dɛn kɔl triglisɛrɛyd, di bɔdi nɔ kin ebul fɔ tek am ɛn bifo dat, i kin gɛda na di blɔd lɛk fat drɔp dɛn we dɛn kɔl chylomicrons . dis akyumyuleshכn fכ di chylomicrons na wetin wi kכl chylomicronemia syndrome. Dis kin mek di triglisɛrɛyd lɛvɛl na di blɔd we nɔmal.
I nɔ kin apin so ɔltɛm dat na wan ɔ tu pipul dɛn nɔmɔ pan wan milyɔn pipul dɛn na di wɔl kin gɛt dis sik. Bɔrku tɛm, dɛn kin no am bifo dɛn ol 10 ia, ɛn sɔm pikin dɛn kin no se dɛn gɛt dis sik insay di fɔs ia we dɛn dɔn liv.
Wetin mek dis de apin?
Di men tin we kin mek dis apin na we di jɛnɛtik chenj. di rizin fכ dis na difεkt na di jin dεm we de involv fכ mek di lipoprotein lipase (LpL) εnzym we wi bin tכk bכt.
Di impɔtant tin na dat fɔ mek yu gɛt dis sik, yu fɔ gɛt dis jin we nɔ fayn frɔm yu mama ɛn papa. If yu gɛt am frɔm wan mama ɔ papa nɔmɔ, yu nɔ go gɛt di sik, bɔt yu go bi ‘kɛr’ fɔ da jin de. Dis min se yu gɛt di pawa fɔ pas dis jin to yu pikin dɛn.
di LpL εnzym na wi pankrias de mek am. di men wok we i de du na fכ brok di chylomicron dεm na di bכdi εn εp di bכdi fכ yuz di fεt we de insay dεm fכ εnεji. So we LpL nכ de wok fayn, di fεt nכ kin brok dכn εn di triglisεrayd lεvεl na di bכdi de skayroket.
Wetin na di sayn dɛm fɔ dis?
Di sayn dɛm fɔ FCS na bikɔs di triglisɛrɛyd dɛn we de na di blɔd bɔku. di triglisεrayd lεvεl dεm na hεlty pכsin in sכmtεm sכmtεm 150 mg/dL. Bɔt pan pɔsin we gɛt FCS, dis lɛvɛl kin pas 1,000 mg/dL. I rili impɔtant fɔ no dɛn sayn ya.
| Di sayn we de sho se di sik de | Wan simpul ɛksplen |
|---|---|
| Bɛlɛ de pen | Dis na di sayn wae kin kam pan pɔrsin. dis pen we de kam wan wan kin stat na di כp bכdi εn i kin rayt to di bak. Sɔntɛnde, i kin rili bad. |
| Pankriaytis we gɛt sik | Bɔku tɛm, dis kin mek yu bɛlɛ fil pen. di pankrias na imכtant כgan insay wi bεlε. Dis na we i de swel. Sɔm kayn sik lɛk fɔ nɔs, fɔ swet, fɔ fil wik, ɛn fɔ yɔlɔ na yu yay ɛn skin kin kam bak wit dis. |
| Skin kin chenj | Sɔm pipul dɛn kin gɛt wan sik we dɛn kɔl cutaneous xanthomas . Dɛn tin ya na smɔl smɔl bɔmp dɛn we nɔ de mek pɔsin fil pen, we gɛt rɛd yɔlɔ, we de apin na say dɛn lɛk di bɔdi, di ni, ɛn di ɛlb. Dɛn tin ya na fat. If yu si dɛn tin ya, i kin bi sayn fɔ se yu gɛt bɔku fat na yu blɔd. |
| Di chenj dɛn we de apin na di yay | Lipaemia retinalis na wan sik we di bכdi we de insay di yay de sho se i tan lεk milk. Dis kin apin bikɔs di fat kin bɔku. Bɔt, i nɔ de ambɔg di we aw pɔsin de si tin. |
| Di liva ɛn di splin we de big | Ɛspɛshali pan yɔŋ pikin dɛn, wan kayn wayt blɔd sɛl (macrophages) kin tray fɔ tek di fat we pasmak na di bɔdi. Dɛn sɛl dɛn ya kin tek di fat ɛn put am na di liva ɛn di splin, ɛn dis kin mek dɛn ɔgan dɛn de big. |
| Mental ɛn nyurolɔjik simptom dɛm | Sɔm sik pipul dɛn kin gɛt tin dɛn lɛk pwɛl hat, nɔr kin mɛmba fayn, ɛn dis maynia sik. |
Aw dɛn kin no bɔt dis ɛn trit am?
Diagnosis we dɛn kin gɛt
Bikɔs na wan sik wae nɔr kin bɔrku, sɔmtɛm kin tek sɔm tɛm fɔ gɛt kɔrɛkt diagnosis. If yu gɛt pen na yu bɛlɛ ɔltɛm, yu gɛt pankrias bɔku bɔku tɛm, ɛn yu gɛt ay triglisrayd lɛvɛl na yu blɔd, yu dɔktɔ go sɔprayz se yu gɛt FCS.
Dɛn kin du dɛn tɛst ya fɔ no if pɔsin gɛt di sik:
- Fasting triglyceride blood test: Dɛn kin du dis tɛst afta yu dɔn fast fɔ sɔm awa. if di triglisεrayd lεvεl hכy pas 750 mg/dL, i kin bi FCS. Sɔntɛnde, di blɔd sɛmpul kin tan lɛk milk.
- di lipase lεvεl tεst: dεn de gi spεshal injεkshכn (hεparin) fכ mכsu aw mכch pan di LpL εnzym de prodyuz di bכdi.
- Jεnεtik tεst: Dis na di כnli we fכ bi 100% sכri. I kin chɛk if di jin we nɔ fayn na in mama ɛn papa ɔl tu gɛt am.
- CT skan: Dis kin ɛp fɔ si if di ɔgan dɛn lɛk di pankrias ɛn di liva dɔn pwɛl.
Di we aw dɛn kin trit am
Di it na di men tin we dɛn kin yuz fɔ mɛn FCS, ɛn wan nyu mɛrɛsin de bak we dɛn jɔs dɔn gri fɔ.
Di tin we impɔtant pas ɔl: Mɛrɛsin lɛk statin ɛn fibrate, we dɛn kin gi fɔ kɔlɔstrel, nɔ kin wok fɔ FCS. Bikɔs fɔ mek dɛn mɛrɛsin dɛn de wok, di LpL ɛnzaym we wi bin dɔn tɔk bɔt fɔs nid fɔ de wok fayn fayn wan na di bɔdi.
Diet fɔ FCS
Dis na di impɔtant pat pan di manejmɛnt. I impɔtant fɔ wok wit yu dɔktɔ ɛn pɔsin we sabi bɔt it fɔ mek dis it plan.
- Limit fat: Di fat we yu de it fɔ wan de fɔ smɔl pas 20 gram.
- Stɔp fɔ drink rɔm ɔltogɛda: Alkol de mek di triglisrayd lɛvɛl go ɔp mɔ.
- Limit simpul shuga ɛn kabɔhaydrɛt: Nɔ it tin dɛn lɛk drink we gɛt shuga ɛn swit.
- Tin dɛn fɔ it: Vɛjitebul, frut, ligɛm, ɔl gren, eg wayt, dairy prodakt we nɔ gɛt fat, ɛn mit we nɔ gɛt bɛtɛ bɔdi.
- Vitamin supliment: Yu dɔktɔ kin se yu fɔ tek vaytamɛn dɛn we de sɔlv fat lɛk vaytamɛn A, D, E, ɛn K, we di bɔdi nid fɔ ridyus di fat.
Nyu mɛrɛsin
Olezarsen (Tringolza) ɛn ɔda pipul dɛn.Na nyu mɛrɛsin we dɛn dɔn gri fɔ insay Disɛmba 2024. Na injɛkshɔn we dɛn kin injɛkt ɔnda di skin wan tɛm insay di mɔnt. Fɔ tɔk am simpul wan, i de wok bay we i de ridyus di bɔdi we de mek wan prɔtin we dɛn kɔl apoC-III, we de ɛp fɔ mek di fat gɛda na di blɔd. Yu kin lan mɔ bɔt dis frɔm yu dɔktɔ.
Chalenj dɛm fɔ liv wit FCS
FCS na wan sik wae de kam wae yu de liv yu layf wae kin gɛt bɔrku impak pan ɔl tu di bɔdi ɛn maynd wɛl bɔdi.
- I nɔ kin izi fɔ it: Fɔ it na do ɛn fɔ go pati kin rili at.
- Saykolojik ifekt dεm: Yu kin fil pen ɔltɛm, frayd fɔ di fכs tεm, wɔri, εn "bren fכg" kin apin.
- Impekt pan soshal ɛn wok layf: Fɔ de na ɔspitul ɔltɛm kin mek i nɔ izi fɔ kip sɔshal rilayshɔn ɛn wok.
So, i rili impɔtant fɔ woke klos wit yu mɛdikal tim ɛn if nid de, yu fɔ aks fɔ sɔpɔt frɔm pɔsin we de advays yu bɔt mental wɛlbɔdi biznɛs.
Mɛsej we dɛn kin kɛr go na os
- FCS na wan jεnεtik kכndyushכn we nכ kin apin we de mek di bכdi nכ ebul fכ brok dכn di fεt dεm (triglycerides).
- dis kin mek di triglisεrayd lεvεl dεm we nכmal na di bכdi, εn di men sayn dεm na di bεlε pen bad bad wan εn inflameshn na di pankrias (pankrias).
- Di men pat pan tritmɛnt na fɔ fala wan rili strikt it we nɔ gɛt bɔku fat . Wi fɔ avɔyd fɔ drink rɔm kpatakpata.
- Kɔlestɔl mɛrɛsin we dɛn kin tek ɔltɛm nɔ kin wok fɔ dis sik, bɔt wan nyu mɛrɛsin de we dɛn dɔn kam wit.
- Fɔ mɛn dis sik na prɔblɛm fɔ yu layf, so i impɔtant fɔ gɛt sɔpɔt frɔm yu dɔktɔ, pɔsin we sabi bɔt it, ɛn yu famili.
- If yu ɔ sɔmbɔdi na yu famili gɛt dɛn sik ya, go to yu dɔktɔ we nɔ de te ɛn aks fɔ advays.
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