Lɛ wi lan bɔt Tangier Disease, wae kin kam pan pipul dɛm wae gɛt smɔl smɔl gud kɔlɔstrel (HDL) na dɛn bɔdi.

Yu dɔn ɛva yɛri bɔt wan kayn kɔlɔstrel we dɛn kɔl gud kɔlɔstrel (HDL / high-density lipoprotein) ? Yes, yes... Tide wi go tɔk bɔt wan sik we rili rare we kin apin we di lɛvɛl fɔ dis gud kɔlɔstrel na wi bɔdi rili smɔl. Dɛn kɔl dis sik we dɛn kɔl Tangier Disease . Sɔntɛm yu nɔ sabi dis nem, bɔt i rili impɔtant fɔ no bɔt am.

Wetin na Tangier Disease? Lɛ wi ɔndastand am simpul wan!

Okay, mek wi stat frɔm di biginin. Tangier Disease na wan sik we nɔ kin bɔku ɛn we wi kin gɛt frɔm wi mama ɛn papa, dat na, wi kin gɛt frɔm wi jɛnɛtiks . Pipul wae gɛt dis sik kin gɛt bɔrku bɔrku gud kɔlɔstrel (HDL) na dɛn bɔdi. Yu no, dis HDL kכlestכl dεn nכ de kכl am "gud kכlestכl" fכ natin. Na dɛn kin ɛp fɔ mek wi bɔdi klin bay we dɛn de pul bad kɔlɔstrel (LDL / low-density lipoprotein) we kin mek wi blɔd vesel dɛn, dat na, na wi at .

Naw tink bɔt wetin kin apin we dis gud kɔlɔstrel (HDL) dɔn go dɔŋ. Dat bad kɔlɔstrel (LDL) ɛn ɔda kayn fat (lipid) kin bigin fɔ put insay wi at. Jɔs lɛk aw dɔti kin stɔp na wata paip. Dis kin mek wi gɛt prɔblɛm wit wi at , at atak , ɔ ivin mek wi gɛt tin dɛn lɛk strok . Nɔto dat nɔmɔ, dis sik kin afɛkt bɔku ɔda pat dɛn na wi bɔdi.

Wetin mek dɛn bin de kɔl am "Tangier"?

Dis na stori bak we rili intrestin. Dɛn gi dis sik in nem "Tangier" bikɔs ɔf di Tangier Ayland , we de ɔdasay na di si frɔm di US stet na Virginia. Dɛn bin fɔs kam fɔ no dis sik pan di pipul dɛn we bin de na da ayland de. Bɔt dat nɔ min se dis na sɔntin we jɔs de na da ayland de. Pipul wae gɛt dis sik na ɔda kɔntri dɛm na di wɔl bak.

Aw kɔmɔn wan sik we dɛn kɔl Tangier Disease?

Fɔ tru, Tangier Disease na wan sik we nɔ kin apin so ɔltɛm . Na smɔl pipul dɛn nɔmɔ dɛn dɔn no, we na lɛk 100, ɔlsay na di wɔl. Na dat mek dɛn nɔ de tɔk bɔku bɔt am. Bɔt pan ɔl we i nɔ kin apin so ɔltɛm, i impɔtant fɔ no bɔt dis sik, nɔto so?

Aw Tangier Disease kin afɛkt wi bɔdi?

Na dis na wetin kin apin. We wi gɛt dayabitis, di gud kɔlɔstrel (HDL) we de na wi bɔdi kin smɔl, so dɛn nɔ kin ebul fɔ kɛr di fat (lipid) go na wi liva fayn fayn wan. Di liva na di wan we de pul dis fat we wi nɔ want na di bɔdi. So, dis fat we wi nɔ kin ebul fɔ pul kin bigin fɔ gɛda smɔl smɔl na difrɛn pat dɛn na wi bɔdi. We dis fat gɛda, da ɔgan de kin big smɔl bak.

Bɔku tɛm, dɛn kin put fat dis we:

• Liva: Di liva kin big.
• Spleen: 1.di splin kin swel bak εn i kin big.
• Tonsils: Na di tonsils we de na wi trot. Dɛn kin gɛt yɔlɔsh-ɔrɛnj kɔlɔ we dɛn ful-ɔp wit fat.
• di limf no dεm: Dis na pat pan wi imyun sistεm. Dɛn kin swel bak.
• At: Dis kin afɛkt bak aw di at de wok.
• Bren: Sɔntɛnde, di bren kin afɛkt bak.

Apat frɔm dis, sɔm ɔda prɔblɛm dɛn kin apin:

• Nεv εshyu: Nεv prכblεm, lεk fכ sכmtεm na di limb dεm kin apin.
• di triglisεrayd lεvεl we de εlevεt: Dis na wan kayn fεt we de insay di bכdi, jכs lεk kכlestכl.
• Prɔblɛm fɔ si: I kin gɛt klawd we nɔ kɔmɔn na di yay, ɛn sɔntɛnde i kin ivin nɔ de si fayn igen.

Wetin na di sayn dɛm fɔ Tangier Disease?

Dis rili impɔtant. De sayn dɛm fɔ Tangier Disease kin difrɛn frɔm pɔrsin to ɔda pɔrsin. I dipen pan usay di fat de na di bɔdi, lɛk aw a bin dɔn tɔk. Sɔm pipul kin sho sɔm kayn sik wae dɛn bɔn dɛn, ɔda wan nɔr kin sho ɛni big sayn te dɛn ol 60-65 ia.

Na sɔm kɔmɔn sayn dɛn ya:

• Bɛlɛ pen ɔ nɔs.
• di fεt dεm we de na di at dεm (atherosclerosis): Dis kin mek yu gεt at sik bכku.
• Dray skin.
• di aylid de rɔl insay (Ectropion): Dis na sɔm kayn sayn we nɔ kɔmɔn.
• Anemia: Dis min se blɔd nɔ de.
• Di mɔsul dɛn we wik na di an, leg, an, ɔ fut.
• Di limf no dɛm we dɔn swel fɔ lɔng tɛm we nɔ gɛt ɛni infɛkshɔn.

Mɛmba se sɔmtɛm dɛn kin mistek kɔl dɛn sik ya fɔ ɔda sik, na dat mek i impɔtant fɔ gɛt kɔrɛkt diagnosis.

Wetin kin mek pɔsin gɛt Tangier Disease? Lɛ wi tɔk bɔt jin!

Tangier Disease na bikɔs ɔf wan difrɛns na wan jin we dɛn kɔl ABCA1 jin we wi kin gɛt frɔm wi mama ɛn papa. Fɔ tɔk am simpul wan, di ABCA1 jin gɛt di instrɔkshɔn dɛn fɔ pul di kɔlɔstrel na wi sɛl dɛn ɛn ad am to di gud kɔlɔstrel (HDL). HDL de kɛr dis kɔlɔstrel go na di liva, usay i de kɔmɔt.

naw, if difεkt כ mכtεshכn de na dis ABCA1 jin, dεn instrכkshכn dεm de nכ de wok fayn. afta dat di kכlestכl we de kכmכt frכm di sεl dεm εn di fכmeshכn fכ HDL nכ de apin fayn fayn wan. di rizulεt na dat di HDL lεvεl dεm de dכn bכku bכku wan.

Dis na aw dɛn kin gɛt am frɔm dɛn mama ɛn papa:

• If di mama ɛn papa ɔl tu gɛt di ABCA1 jin we nɔ fayn, di pikin go gɛt Tangier Disease.
• If na wan mama ɔ papa nɔmɔ gɛt di jin we nɔ fayn, di pikin go bi pɔsin we de kɛr am. Dɛn nɔ kin sho di sayn dɛm, bɔt dɛn HDL lɛvɛl kin smɔl pas aw i kin bi.

Naw imajin se mama ɛn papa dɛn ɔl tu gɛt dis jin we nɔ fayn, we min se dɛn nɔ kin gɛt di sik, bɔt dɛn ɔl tu gɛt di jin. We dɛn kayn mama ɛn papa dɛn de gɛt pikin:

• 25% (1/4) chans de fɔ mek di pikin gɛt Tangier Disease.
• 50% (1/2) chans de fɔ mek di pikin gɛt di sik.
• 25% (1/4) chans de fɔ mek di pikin nɔ gɛt ɛni jin we nɔ fayn ɛn i go gɛt wɛlbɔdi.

Dis tan lɛk fɔ flip kɔyn ɛn gɛt ed ɔ tel. di prכbabiliti dεm na di sem fכ εvri bεlε.

Aw dɔktɔ dɛn kin no se pɔsin gɛt Tangier Disease?

Fɔ no fɔ tru if yu gɛt Tangier Disease, yu nid fɔ go to dɔktɔ. I go fɔs du ɛgzam fɔ yu bɔdi ɛn aks am bɔt di sayn dɛm we yu gɛt. Dɔn, dɛn go ɔda fɔ mek dɛn du bɔku blɔd tɛst . Dɛn blɔd tɛst ya kin luk mɔ pan yu HDL kɔlɔstrel lɛvɛl ɛn aw yu lɛvɛl smɔl pan wan prɔtin we dɛn kɔl apolipoprotein A1 (ApoA1) . Dɛn tu tin ya kin rili smɔl pan pipul dɛm wae gɛt Tangier Disease.

Dɛn kin du jenɛtik tɛst bak fɔ kɔnfɔm di diagnosis. i kin chεk fכ wan spεsifi k mכtεshכn na di ABCA1 jin. Bɔt, sɔntɛm dɛn nɔ go ebul fɔ tɛst di jɛnɛtiks ɔlsay. If na so i bi, yu dɔktɔ kin tek smɔl pat pan yu bɔdi (bayopsi) frɔm wan pat na yu bɔdi, lɛk yu tɔnsil, yu skin, ɔ yu liva. di kayn fεt we de insay dεn tisu dεm ya kin yus fכ gεt aidia fכ di sik.

Us prɔtin nɔ de na di Tangier Disease?

Insay di sik we dɛn kɔl Tangier, wan prɔtin we dɛn kɔl apolipoprotein A1 (ApoA1) kin ridyus bad bad wan. dis ApoA1 na wan men kכmכpכnt fכ di HDL kכlestכl mכlekyul. So we ApoA1 de dכn, di HDL lεvεl dεm de dכn bak.

Us tɛst dɛn kin yuz fɔ no di sik ɛn fɔ fala di sik?

Dɔktɔ dɛn kin du sɔm ɔda tɛst dɛn bak fɔ no di sik ɛn fɔ wach aw di sik de afɛkt di bɔdi.

• di tεst dεm we di nεv εn mכsul dεm de wok (Electromyograms / EMGs): Chεk fכ di nεv dεm we dεn dכn pwεl εn di mכsul dεm wik.
• Ay ɛgzam: Chɛk fɔ ɛni blurred vishɔn ɔ vishɔn prɔblɛm.
• כltra saund pan yu bεlε / bכdi: Chεk di kכndishכn fכ di כgan dεm lεk di liva εn di splin.
• Ultrasound pan yu carotid arteries: Chεk fכ fεt dεposit dεm na di men atεri dεm na yu nεk.
• CT angiogram fɔ yu at:Chek fɔ si if di at dɛn we de gi blɔd to di at dɔn blok.
• Echocardiogram: Na skan fɔ luk aw di at de wok ɛn aw i tan.
• Ɛksesaiz strɛs tɛst: Si aw di at de ansa we yu de du ɛksɛsayz.

Aw dɛn kin trit Tangier Disease?

Fɔ tɔk tru, no patikyula tritmɛnt nɔ de we go ebul fɔ mɛn Tangier Disease kpatakpata. Bikɔs na wan sik wae de kam pan pɔrsin in jɛnɛtiks, bɔrku tin de wae yu kin du fɔ kɔntrol de sik ɛn fɔ ridyus di prɔblɛm dɛm.

Sɔntɛnde, dɛn kin nid fɔ ɔpreshɔn wan ɔgan we dɔn pwɛl bikɔs ɔf di fat we de na di bɔdi, fɔ ɛgzampul di tɔnsil ɔ di splin.

Fɔ it ɛn drink kin ɛp?

Yɛs, i rili pɔsibul. Sɔm it dɛn de we kin ɛp fɔ mek wi gɛt bɔku kɔlɔstrel (HDL) smɔl, ɛn i kin ɛp bak fɔ mek wi nɔ gɛt bɔku kɔlɔstrel (LDL).

• Avokado we dɛn kɔl
• Ɔliv ɔyl
• Ligim lɛk bins ɛn chikip (Bins) .
• Wul grens (e.g., ol mil, ol mil rays) .
• Fish we gɛt fat ( ɛgz. salmɔn, makrɛl, ɛring) .
• Nat ( e.g. pinat, amɔnd, kash - bɔt nɔ gɛt sɔl)
• Frut dɛn we gɛt bɔku fayv (e.g. guava, mango, banana) .
• Chia sid ɛn flaks sid

If yu tray fɔ put dɛn it ya insay yu it ɔltɛm, dat go ɛp fɔ mek yu gɛt gud kɔlɔstrel.

Wetin na di mɛrɛsin ɛn di chenj dɛn we pɔsin kin chenj in layf?

Yu dɔktɔ kin gi yu mɛrɛsin dɛn we de mek yu nɔ gɛt bɔku bɔku kɔlɔstrel , lɛk statin.

I kin se bak fɔ mek sɔm chenj dɛn na yu layf we go ɛp fɔ mek yu gɛt mɔ HDL:

• Fɔ ɛksesaiz bɔku tɛm: Dis kin min fɔ waka ɔ rɔn fɔ at le 30 minit insay di de.
• Nɔ yuz tin dɛn we dɛn kin yuz fɔ smok: Yu fɔ stɔp fɔ smok sigrɛt kpatakpata.
• Fɔ de pan wɛlbɔdi wet.
• It monounsaturated fats instead of saturated fats: Satyureted fats de insay tin dɛm lɛk kokonat ɔyl, pam ɔyl, ɛn animal ɔyl. Monounsaturated fats de insay ɔliv ɔyl ɛn avokado.

Wetin na di sayd ɛfɛkt dɛm we di tritmɛnt kin gɛt?

Sɔntɛnde, mɛrɛsin dɛn we de mek pɔsin nɔ gɛt bɔku bɔku kɔlɔstrel kin mek i gɛt smɔl smɔl bad tin dɛn. Nɔto ɔlman kin gɛt dɛn, bɔt i fayn fɔ no bɔt dɛn.

• Ɛd we de at
• Di mɔsul dɛn we de at
• Banbɛlɛ
• Bɛlɛ we nɔ fayn

If sɔntin lɛk dis apin, yu fɔ tɛl yu dɔktɔ. Dɔn i kin chenj di mɛrɛsin ɔ gi yu ɔda advays.

Yu tink se dɛn kin ebul fɔ avɔyd Tangier Disease?

Bikɔs dis na tin we pɔsin kin gɛt we i kam pan jɛnɛtiks, wi nɔ go ebul fɔ mek i nɔ kam. Dis min se if yu gɛt dis prɔblɛm na yu jin, yu nɔ go ebul fɔ chenj am. Bɔt if yu gɛt dis sik, ɔ if yu gɛt dis sik, yu kin go to pɔsin we de advays yu bɔt yu jɛnɛtiks fɔ no di prɔblɛm we yu pikin dɛn gɛt fɔ gɛt dis sik. Dɔn, we yu tink bɔt di ɔda mama ɔ papa in jɛnɛtiks, yu kin gɛt klia aidia bɔt di chans fɔ mek yu pikin dɛn gɛt am.

If a gɛt Tangier Disease, wetin go apin tumara bambay?

De prɔgnosis fɔ pipul dɛm wae gɛt Tangier Disease kin jɔs fayn, bɔt i kin dipen pan aw yu simptom dɛm dɔn go bifo. Jɔs lɛk ɛni sik, i bɛtɛ fɔ no di sik kwik kwik wan , bifo di sayn dɛn go tranga.

Pan ɔl we dɛn nɔ gɛt ɛni patikyula mɛrɛsin fɔ dis yet, op de se tin dɛn lɛk jin tɛrapi go ɛp tumara bambay. Risach stil de go bifo.

Aw lɔng Tangier Disease kin las?

Bikɔs dis na sik we pɔsin kin gɛt frɔm in bɔdi, i kin de fɔ ɔl in layf. Bɔt if dɛn no am kwik ɛn dɛn kin chɛk am ɔltɛm, dɛn kin ebul fɔ kɔntrol dis sik fayn fayn wan ɛn liv wit am.

Aw a kin kia fɔ misɛf?

If yu gɛt big splin bikɔs ɔf Tangier Disease, yu fɔ rili avɔyd kɔntakt spɔt, bikɔs dis kayn kɔntakt kin mek di splin brok, we kin denja.

Apat frɔm dat, dɛn fɔ kɔntrol ɔda tin dɛn bak we kin mek pɔsin gɛt at sik:

• Fɔ kɔntrol di ay blɔd prɛshɔn .
• If yu gɛt dayabitis , kɔntrol am fayn fayn wan.
• Fɔ avɔyd fɔ yuz tin dɛn we dɛn mek wit tabak.

Ustɛm a fɔ go to dɔktɔ?

If yu gɛt Tangier Disease, yu fɔ go to yu wɛlbɔdi biznɛs ɔltɛm . Da we de, if yu sik de wɔs, yu kin tek akshɔn kwik kwik wan.

Bɔku tɛm, di dɔktɔ go chɛk fɔ dɛn tin ya:

• Nɛvɔ sistɛm.
• At.
• Yay.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu go to yu dɔktɔ, yu kin aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• A nid fɔ tek mɛrɛsin fɔ mek a gɛt mɔ kɔlɔstrel?
• Sɔpɔt grup de wae pipul dɛm wae gɛt Tangier Disease kin jɔyn?
• Aw ɔltɛm a fɔ kam si yu?

Bikɔs Tangier Disease kin afɛkt difrɛn pat dɛn na di bɔdi, i bɛtɛ fɔ mek dɛn chɛk ɛni pat ɔltɛm. Yu kin nid fɔ go to sɔm difrɛn spɛshal pipul dɛn. Tek di mɛrɛsin jɔs lɛk aw yu dɔktɔ tɛl yu, ɛn du ɔl wetin yu ebul fɔ it fayn it ɛn fɔ du ɛksɛsayz.

Di impɔtant tin dɛn we wi nid fɔ mɛmba (Take-Home Message) .

Okay, mek a somari som of di tins we yu nid fo memba from wetin wi don tok abaut.

• Tangier Disease na wan sik wae nɔr kin bɔrku, wae de mek yu gɛt gud kɔlɔstrel (HDL) go dɔŋ bad bad wan.
• Dis kin mek bad kɔlɔstrel (LDL) ɛn fat gɛda na di bɔdi ɛn afɛkt ɔgan dɛn lɛk di liva, di splin, di tɔnsil, ɛn di at.
• Di sayn dɛm kin difrɛn, ɛn sɔm pipul dɛm kin gɛt prɔblɛm wit dɛn nyurolɔjik, prɔblɛm wit dɛn skin, ɛn prɔblɛm wit dɛn yay.
• dis de kכz fכ wan difεkt na di jin ABCA1 .
• Dɛn kin no dis sik tru blɔd tɛst, jenɛtik tɛst, ɛn sɔntɛnde dɛn kin du tisu tɛst (bayopsi) .
• Pan ɔl we no patikyula mɛrɛsin nɔ de, dɛn kin kɔntrol di sik dɛn bay we dɛn de it, chenj di we aw dɛn de liv dɛn layf, tek mɛrɛsin, ɛn sɔm ɔpreshɔn dɛn.
• Fɔ no di pɔsin kwik kwik wan ɛn fɔ go to dɔktɔ ɔltɛm, rili impɔtant.

So, a op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to dɔktɔ. Stay wit wɛlbɔdi!

` Tangier sik, HDL kכlestכl, LDL kכlestכl, jεnεtik sik dεm, kכlestכl mεnejmεnt, hat sik risk, ApoA1