Wi ɔl kin tɔk bɔt kɔlɔstrel ɔltɛm, ɛn wi kin wɔri bɔt am, nɔto so? Bɔt tink bɔt am, yu dɔn ɛva yɛri bɔt wan sik we pɔsin kin gɛt frɔm in mama ɛn papa we in kɔlɔstrel nɔ kin bɔku frɔm we yu smɔl, sɔntɛm ivin we yu smɔl? Tide wi go tɔk bɔt wan pan dɛn kayn sik ya we nɔ bɔku bɔt we rili impɔtant. Dɛn kɔl dis Homozygous Family Hypercholesterolemia (HoFH). Pan ɔl we di nem kɔmplikt smɔl, lɛ wi ɔndastand am simpul wan.
Wetin na Homozygous Family Hypercholesterolemia?
Fɔ tɔk am simpul wan, dis na jɛnɛtik sik we de mek i nɔ izi fɔ wi bɔdi fɔ pul di "bad" kɔlɔstrel, dat na, LDL (Low-Density Lipoprotein) kɔlɔstrel, frɔm wi blɔd. Wi ɔl no se kɔlɔstrel na tin we tan lɛk waks we wi sɛl dɛn nid. di wok we LDL kכlestכl de du na fכ kכri dis kכlestכl tru di bכdi tru di bכdi.
Bɔt we di LDL lɛvɛl go ɔp tumɔs, dis ɛkstra kɔlɔstrel kin bigin fɔ gɛda na di blɔd vesel dɛn we de gi blɔd to wi at, we na di at. As tɛm de go, dɛn tin ya kin blok di at, i kin kɔt blɔd ɛn ɔksijɛn na di at, ɛn i kin mek pɔsin gɛt at atak mɔ ɛn mɔ .
Dis sik na tin we pɔsin kin bɔn wit. Dis min se yu kin gɛt ay kɔlɔstrel frɔm we yu smɔl. Dis na siriɔs sik wae nɔr kin ebul fɔ mɛn ɛn dɛn fɔ de kɔntrol am ɔl yu layf.
If dɛn nɔ trit man dɛn we gɛt dis sik kin gɛt at sik we dɛn ol 40 ia ɛn uman dɛn we dɔn pas 50 ia. So, i rili impɔtant fɔ no bɔt dis ɛn go fɛn di rayt tritmɛnt.
Wetin na di rizin fɔ dis?
Wi kin kɔl dis sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Fɔ tɔk tru, yu kin jɔs gɛt dis sik if yu gɛt tu kɔpi fɔ wan jin we nɔ de wok fayn, wan frɔm yu mama ɛn wan frɔm yu papa .
Nɔmal wan, wi liva kin pul di LDL kɔlɔstrel we pasmak na di blɔd. di liva gεt spεshal ‘LDL rεsεpכta dεm’ fכ dis. Dɛn tin ya tan lɛk magnet we de ol di kɔlɔstrel ɛn pul am na di blɔd. bכt pan pכsin we gεt dis sik, biכs fכ di inhεrit difεktiv jin, dεn risεptor dεm ya nכ de wok fayn. Di rizulyt na dat di kɔlɔstrel lɛvɛl de go ɔp we pɔsin nɔ ebul fɔ kɔntrol am.
Yu kin dɔn yɛri bak bɔt ‘Heterozygous’ Familial Hypercholesterolemia. Dis na we di jin we nɔ fayn de kɔmɔt frɔm wan mama ɔ papa nɔmɔ. dis kכndyushכn nכ de siriכs lεk ‘Homozygous’.
Wetin na di sayn dɛm fɔ dis sik?
Bɔrku men sayn dɛm de wae dɛn kin yuse fɔ no dis sik. Lɛ wi luk dɛn na wan tebul.
| Di kwaliti we pɔsin gɛt | Tɔk bɔt |
|---|---|
| Rili ay kɔlɔstrel lɛvɛl | di tכtal kכlestכl lεvεl kin bi 600 mg/dL כ hכy (wan hεlty lεvεl sכmtεm lεs dan 200). |
| Dipɔsit dɛn na di skin (Xanthomas) . | Yɔlɔ, waksi lumps ɔnda di skin na di ɛlb, ni, ɛn bɔt. Dɛn tin ya na di say dɛn we dɛn kin put kɔlɔstrel. |
| Dipɔsit dɛn na di aylid dɛn (Xanthelasmas) . | Yɔlɔ fεt dεposit dεm na di aylid dεm. |
| Di chenj dɛn we de apin na di yay (Arcus cornealis) . | Wan grey ɔ wayt ring we de rawnd di blak yay. |
| Di sayn dɛn we de sho se pɔsin gɛt at | Sɔm kayn sik lɛk aw yu de fil pen na yu chɛst (angina), yu nɔ de blo fayn, ɛn yu at de bit kwik kwik wan we yu yɔŋ. |
Aw fɔ no di sik?
If yu gɛt dɛn sik ya, i impɔtant fɔ go to yu dɔktɔ. Di dɔktɔ go du fɔs ɛgzam fɔ yu bɔdi ɛn aks yu sɔm kwɛstyɔn dɛn.
- Yu dɔn notis ɛnitin lɛk yɔlɔ spat na yu skin?
- Yu gɛt pen na yu chɛst?
- Yu de fil se yu nɔ de blo fayn?
- Yu mama ɛn papa dɛnsɛf gɛt bɔku kɔlɔstrel?
Dɔn, yu dɔktɔ go du blɔd tɛst fɔ chɛk yu kɔlɔstrel lɛvɛl. Dɛn kin du spɛshal tɛst bak fɔ no if yu gɛt di jin we nɔ fayn we de mek yu gɛt di sik. Yu dɔktɔ kin tɛst yu klos famili mɛmba dɛn bak.
Di we aw dɛn de trit am ɛn aw fɔ mɛn am
Di men gol fɔ tritmɛnt na fɔ ridyus yu LDL kɔlɔstrel lɛvɛl ɛn ridyus yu risk fɔ gɛt at sik.Bɔku tɛm dɛn go rifer yu to dɔktɔ we spɛshal pan kɔlɔstrel sik dɛn lɛk dis (Lipidologist).
Chenj na di we aw pipul dɛn de liv dɛn layf ɛn di tin dɛn we dɛn de it
Di fɔs tin we yu fɔ du na fɔ it tin dɛn we go ɛp yu at ɛn we nɔ gɛt bɔku sɛtyuret fat, kɔlɔstrel, ɛn shuga. I impɔtant bak fɔ lɛf fɔ smok, fɔ lɛf fɔ drink rɔm, ɛn fɔ du ɛksɛsayz ɛvride.
Mɛrɛsin dɛn we dɛn kin yuz
Bikɔs yu kɔlɔstrel lɛvɛl nɔ kin bɔku, dɛn kin bigin yu fɔ tek bɔku bɔku statin , we kin wok bay we i kin mek di liva nɔ mek kɔlɔstrel.
along wit dat, dεn kin ad כda mεdikeshכn dεm we de ridyus di kכlestכl we de abzכp frכm it (e.g. Ezetimibe , PCSK9 inhibitors , Lomitapide ).
Speshal tritmɛnt dɛn
If dɛn nɔ ebul fɔ kɔntrol kɔlɔstrel wit mɛrɛsin nɔmɔ, dɛn go nid fɔ tink bɔt ɔda we dɛn fɔ trit am.
- Apheresis: Dis na wan we we fiba dialysis fɔ di wan dɛn we gɛt kidni. Dɛn kin kɔnɛkt yu to mashin na ɔspitul, dɛn kin pul yu blɔd na yu bɔdi, dɛn kin filta di LDL kɔlɔstrel, ɛn di blɔd we dɛn dɔn klin kin kam bak na yu bɔdi. Dis na tritmɛnt we kin tek sɔm awa ɛn dɛn nid fɔ du am ɔltɛm.
- Liva Transplant: If nɔ pan di tritmɛnt dɛn we wi dɔn tɔk bɔt nɔ wok, di liva transplant kin bi di las tin we dɛn go du. di nyu hεlty liva gεt LDL rεsεpכta dεm, we kin εp fכ kכntrכl kכlestכl. Dis na rili siriɔs ɔpreshɔn, ɛn fɔ wɛl kin tek 6 mɔnt to wan ia.
We dɛn de du dis kayn siriɔs tritmɛnt, i rili impɔtant fɔ aks yu fambul ɛn padi dɛn fɔ sɔpɔt yu pan aw i de fil. Tɔk opin wan bɔt dis wit yu dɔktɔ.
Mɛsej we dɛn kin kɛr go na os
- Homozygous Familial Hypercholesterolemia na siriɔs, bɔt rare, jɛnɛtik kɔndishɔn we kin mek di kɔlɔstrel lɛvɛl rili ay.
- Dis na bikɔs dɛn kin gɛt tu jin dɛn we nɔ fayn frɔm dɛn mama ɛn papa.
- If yu no ɛn bigin fɔ trit yu we yu smɔl, yu kin ridyus di chans fɔ gɛt at sik we yu yɔŋ.
- Di tritmɛnt na fɔ ɔl yu layf ɛn i kin inklud mɛrɛsin, it, ɛksɛsayz, ɛn sɔntɛm spɛshal tritmɛnt (apheresis).
- If pɔsin na yu famili dɔn gɛt at sik ɔ ay kɔlɔstrel we i yɔŋ, i go fayn fɔ mek dɛn chɛk yu kɔlɔstrel lɛk aw yu dɔktɔ advays yu.
- Nɔto yu wan de na dis waka. Wok wit yu dɔktɔ, yu fambul, ɛn sɔpɔt grup fɔ mek yu ebul fɔ mɛn dis sik fayn fayn wan.
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