Yu pikin kin gɛt swɛlin wantɛm wantɛm? Lɛ wi tɔk bɔt Hɛriditary Angioedema (HAE)!

Yu dɔn ɛva notis se yu smɔl pikin de swel wantɛm wantɛm na difrɛn pat dɛn na in bɔdi, sɔntɛnde in fes, in an, ɛn fut? Ɔ yu pikin de sho sayn dɛn we de sho se i nɔ de blo fayn wit in bɛlɛ we de at? Sɔntɛm, wan tin de we nɔ kin apin so ɔltɛm bɔt we impɔtant biɛn dɛn sik ya. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya, dat na `Hereditary Angioedema (HAE). Nɔ wɔri, wi go tɔk bɔt dis simpul we we yu go ɔndastand.

Wetin na dis `Hɛridit Angioedema (HAE)`?

Fɔ tɔk am simpul wan, `Hereditary Angioedema` (dεn kin kכl am bak `HAE` fכ sכt) na wan kכndishכn we rili rεs, jεnεtik (we min se i kin pas dכn tru jεnereshכn). I kin mek yu pikin in bɔdi swel difrɛn say dɛn. Dis swel kin apin na say dεm we wi kin si na do, lεk in an, in leg, εn fes, כ sכmtεm na say dεm we wi nכ de si, lεk di tisu dεm na di pikin in aywe dεm (brith sistεm) כ dijestiv sistεm (gut) .

Naw yu go de wɔnda wetin mek dis swɛlin kin apin. dis swel de apin biכs di sכm sכm bכdi we de na di pikin in bכdi, we dεn kכl ``Capillaries,'' de lik wata kכmכt na dεm εn kכlekt insay di tisu dεm we de rawnd am. we dis wata de kכlekt, i kin blok di fכ fכlכ blכd כ limf tru dεm. I at fɔ no ustɛm dis swɛlin ɛn di sayn dɛm we gɛt fɔ du wit am (dɛn kin kɔl am bak ``HAE atak'') go apin. Dɔn bak, sɔmtɛm dis kin stɔp wit smɔl swɛlin, bɔt sɔntɛnde i kin tranga fɔ mek i day.

Insay mɛrɛsin, di wɔd "angio" (`Angio-`) de tɔk bɔt blɔd vesel dɛm. "Edima` (`-edema`) de tכk bכt swεla we de kכz fכ wata we de kכmכt na di tisu dεm. bכku kayn `angioedema` de, εvri wan gεt difrεn kכz. `HAE` na di rarest pan dεm. Dεn kכl am `congenital`, we min se dεn bכn pכsin wit di kכndyushכn."

If dɛn no se yu pikin gɛt HAE, yu kin fil bad bad wan bɔt wetin fɔ ɛkspɛkt. Bɔt fɔ no dis kin ɛp yu fɔ put yu maynd fayn: Risach de go bifo pan nyu tritmɛnt fɔ pipul dɛm wae gɛt ɔl kayn ej wae gɛt HAE, ivin pikin dɛm. Yu dɔktɔ kin ɛp yu fɔ ɔndastand us tritmɛnt dɛn we fayn fɔ yu pikin ɛn wetin fɔ ɛkspɛkt tumara bambay.

Yu tink se kayn `HAE` de?

Yes, pan ɔl we `HAE` na wan kayn `angioedema`, dɔktɔ dɛn kin sheb `HAE` to sɔm ɔda kayn dɛn:

• Tayp I HAE: Dis na di kayn we we dɛn kin yuz mɔ . Na lɛk 85% pan ɔl di HAE pasɛnt dɛn gɛt dis kayn. dis kin bi we di pikin in bכdi nכ de prodyuz inof wan spεshal protin we dεn kכl C1-inhibitor (dεn kכl am bak C1-INH). we dis C1-INH protin dכn sכm, inflameshn εn swεla kin apin na di bכdi. Dɛn kin kɔl dis bak C1-INH dɛfisiɛns.
• Tayp II HAE: Dis na di sɛkɔn kayn we we dɛn kin yuz mɔ. insay dis kayn we, di pikin in bכdi de mek di C1-INH protin, bכt i nכ de wok fayn fayn wan.
• HAE wit nɔmal C1-INH: Dis na di kayn we we nɔ kɔmɔn . di pikin in C1-INH protin lεvεl εn di aktiviti nכmal, bכt כda tin dεm we de mek i swel.

Di fɔs tu kayn (Type I ɛn Type II HAE) we dɛn put togɛda, kin afɛkt lɛk 1 pan ɛvri 50,000 pipul dɛn . Dat min se na kɔntri lɛk Amɛrika, na lɛk 6,000 pipul dɛn de sɔfa wit dis kayn HAE. Risach pipul dɛn nɔ no bɛtɛ bɛtɛ wan ɔmɔs pipul dɛn we gɛt HAE gɛt nɔmal C1-INH lɛvɛl, bɔt dɛn se i nɔ kin bɔku.

Wetin na di sayn dɛm fɔ HAE?

Di sayn dɛm fɔ HAE kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm sayn wae kin kam pan pɔrsin wae gɛt dis sik na:

• Swel we kin apin na difrɛn pat dɛn na di pikin in bɔdi, fɔ ɛgzampul , in an dɛn, in leg dɛn, in yaylid dɛn, in lip dɛn, ɛn di say dɛn we in bɔdi de .
• di simptom dεm fכ inflameshn na di pikin in dijestiv sistεm (Gastrointestinal (GI) tract). Dis kin inklud fɔ nɔs, vɔmit, bɛlɛ kramp, ɛn dayarɛa .
• Di sayn dɛm we kin kam we di pikin in mɔt, in trot, ɛn di say dɛn we i de blo swel . Dɛn tin ya kin bi we i nɔ kin izi fɔ swɛla, yu tɔŋ kin swel, yu kin mek sawnd we de mek yu blo we yu de blo, ɛn yu vɔys kin chenj .

Di tin we impɔtant pas ɔl: If yu pikin gɛt prɔblɛm fɔ blo ɔ swɛla, kɔl di imejensi rum we de nia yu ɔ kɛr yu pikin go na ɔspitul wantɛm wantɛm. Swel na di aywe na wan rili siriɔs, layf-threating kɔmplikeshɔn fɔ HAE. I kin kil pɔsin if dɛn nɔ trit am kwik.

HAE nɔ de mek pɔsin gɛt ayv. Dis na di men difrɛns bitwin HAE ɛn ɔda kayn angioedema, lɛk akyu alɛji angioedema. Bɔt sɔm pipul dɛn we gɛt HAE kin gɛt wan rɛd rɔsh we nɔ de it bifo di swel kam, we kin bi sayn fɔ se dɛn gɛt atak we gɛt fɔ kam.

Wan `HAE atak` kin te lɛk tri to fayv dez . Dɛn `atak` ya kin kam ɛn go wantɛm wantɛm, so i at fɔ tɔk ustɛm ɛn aw dɛn go apin.

Ustɛm di HAE simptom dɛn kin bigin?

Di HAE simptom dɛn kin bigin we dɛn smɔl ɔ we dɛn yɔŋ . Dɛn kin tranga pasmak we dɛn de bɔn pikin. Sɔm pikin dɛn kin bigin fɔ gɛt dis sik we dɛn ol 2 ia . Na lɛk 50% pan di pipul dɛm wae gɛt HAE tayp I ɔ II kin gɛt dis sik we dɛn ol 10. Afta dɛn dɔn rich 10 ia, dɛn atak ya kin bi mɔ ɛn mɔ ɛn i kin tranga. Klose to ɔlman wae gɛt HAE tayp I ɔ II kin gɛt dis sik we dɛn ol 20 ia.

Pipul wae gɛt HAE wae gɛt nɔrmal C1-INH lɛvɛl kin gɛt sɔm kayn sik leta – bɔrku tɛm na dɛn let tɛns ɔr ali big pipul.

Wetin na di tin dɛn we kin mek pɔsin gɛt HAE atak?

I nɔ kin klia ɔltɛm wetin na di ɛksaktɔ ``trig`` we kin mek HAE atak. Bɔt sɔm pan di ``trig dɛn`` we dɛn dɔn no na:

• Injuri na in bɔdi ɔ smɔl aksidɛnt: Imajin se yu pikin fɔdɔm we i de ple wan de.
• Tit tritmɛnt: Tin dɛn lɛk fɔ pul yu tut ɔ fɔ ful-ɔp am.
• Ɔpreshɔn: Na ɔpreshɔn , ilɛksɛf na smɔl ɔ big ɔpreshɔn.
• Stret ɔr pwɛl hat: Skul ɛgzam ɔ ivin smɔl fɛt wit yu padi kin afɛkt.
• Vayral infεkshכn: Tin dεm lεk di flu εn kol.
• Sɔm tin dɛn we yu kin du wit yu bɔdi: Fɔ ɛgzampul, tin dɛn lɛk fɔ tayp ɔltɛm, fɔ nak wit hama, ɔ fɔ dig wit swɛlin.

Sɔntɛm yu nɔ go ɔndastand wantɛm wantɛm wetin kin mek yu pikin gɛt atak. Bɔt i kin rili ɛp fɔ kip wan jɔnal fɔ di tɛm we di atak apin ɛn wetin di pikin bin de du da tɛm de (fɔ ɛgzampul, if di pikin bin sik ɔ i bin strɛs) .

Wetin na di rial tin we kin mek pɔsin gɛt HAE?

כl tu di HAE tayp I εn II de kכz bay wan mכtεshכn (כ chenj) insay wan jin we dεn kכl SERPING1. dis jin de tεl yu pikin in bכdi aw fכ mek wan protin we dεn kכl C1-INH. if yu pikin gεt HAE tayp I, dis jin mכtεshכn min se dεn bכdi nכ kin mek inof C1-INH. if yu pikin gεt HAE tayp II, dεn bכdi kin mek C1-INH, bכt di jin mכtεshכn min se di protin nכ de wok fayn.

Risach pipul dεm stil de invεstigat di kכz dεm fכ HAE wit nכmal C1-INH lεvεl, bכt dεn no se mכtεshכn dεm na dεn jin dεm ya kin bi rispansabl:

• `F12`
• `ANGPT1`
• `PLG`
• `KNG1`

insay sכm kes dεm, HAE kin de witout εni jεnεtik mכtεshכn we dεn no. Dɔktɔ dɛn kin kɔl dis "HAE-unknown."

di jεnεtik mכtεshכn dεm we de mek HAE de mek sכm protin dεm na di pikin in bכdi nכ de wok fayn. dis protin dεm de εp fכ fכlכ di wata nכmal wan tru di pikin in sכm sכm bכdi vεsul dεm (kapilari dεm). so, we dεn protin dεm ya nכ de wok fayn, di wata dεm de lik kכmכt εn de kכmכt na di tisu dεm we de rawnd di pikin in bכdi vεsul dεm. Na dat de mek di sayn dɛm fɔ HAE.

HAE kɔmɔt na di famili?

yes, HAE de inhεrit insay wan כtosom dכminant patεn. Fɔ tɔk am simpul wan, na wan abnɔmal jin nɔmɔ i nid fɔ mek i gɛt di sik. Pikin kin gɛt dis abnɔmal jin frɔm in mama ɔ papa.

Bɔrku pipul dɛm wae gɛt HAE gɛt famili histri bɔt dis sik. כltu, sכmtεm pכsin kin divεlכp wan jin mכtεshכn randomly (a "de novo" כ "nyu" mכtεshכn) we nכ gεt nכ famili histri.

Aw dɔktɔ dɛn kin fɛn dis?

If yu pikin sho se i gɛt HAE, dɔktɔ go du dɛn tin ya:

• I de du wan ɛgzam pan in bɔdi .
• Dɛn go aks yu bɔt yu pikin in sik ɛn in mɛdikal istri.
• dεn de du bכdi tεst fכ chεk di pikin in `C1-INH` lεvεl εn di aktiviti .
• Sɔntɛnde, dɛn kin du jɛnɛtik tɛst fɔ si if jɛnɛtik muteshon de we kin mek HAE.

Wetin na di tritmɛnt dɛm fɔ HAE?

Tu men kayn mɛrɛsin de fɔ pipul dɛm wae gɛt HAE:

• Di mɛrɛsin dɛn we dɛn kin aks fɔ: Dis na mɛrɛsin dɛn we dɛn kin gi jɔs lɛk aw HAE atak apin. Fɔ ɛgzampul, mɛrɛsin dɛn lɛk Berinert® ɔ Kalbitor®. If yu tek dɛn mɛrɛsin ya kwik kwik wan afta di sik bigin, dat kin mek di atak nɔ bad ɛn i kin mek yu nɔ gɛt prɔblɛm dɛn we go mek yu layf de pan denja.
• Prɔfylaktik mɛrɛsin: Dɛn mɛrɛsin ya we de ridyus di risk fɔ gɛt atak. Sɔm ɛgzampul dɛn na Cinryze®, Haegarda®, ɔ Takhzyro®. Dɔktɔ kin gi dɛn mɛrɛsin ya fɔ yuz di tɛm we dɛn no se kin mek yu gɛt dis sik (lɛk fɔ go to dɛntist), ɔ fɔ yuz fɔ lɔng tɛm, i go dipen pan wetin yu pikin nid.

Di wan dɛn we sabi bɔt mɛrɛsin se di mɛrɛsin dɛn we dɛn kin gi pɔsin we dɛn want, impɔtant ɛn i kin sev pɔsin in layf. Ivin if yu pikin de tek prɔfylaktik mɛrɛsin, dɛn on-dimand mɛrɛsin ya fɔ de ɔltɛm, ɔlsay (na os ɛn skul).

Di dɔktɔ go tɛl yu ustɛm di mɛrɛsin dɛn we yu pikin nid, aw fɔ gi am, ɛn ustɛm. I go ɛksplen bak us mɛrɛsin dɛn kin gi yu pikin bay aw i ol. Mek shɔ se yu fala di instrɔkshɔn dɛn di rayt we, ɛn mek shɔ se yu aks kwɛstyɔn if ɛnitin de we yu nɔ shɔ bɔt.

Aw kwik a go wɛl afta dɛn dɔn trit mi?

Wit on-dimand mεdikeshכn, yu pikin go bigin fכ fil bεtε kwik kwik wan we HAE atak de. In sik fɔ bɛtɛ insay 30 minit to tu awa afta i bigin fɔ trit am. Yu dɔktɔ go gi yu mɔ infɔmeshɔn bɔt aw fɔ manej di tritmɛnt na os ɛn wetin fɔ ɛkspɛkt.

Aw fɔ kia fɔ pikin we gɛt HAE?

Yu kin fil se yu nɔ ebul fɔ du ɛnitin we yu si yu pikin de sɔfa wit HAE atak. Bɔt bɔku tin dɛn de we yu kin du fɔ yu pikin bifo i atak am, di tɛm we i atak am, ɛn afta i dɔn atak am:

• Kip di mɛrɛsin dɛn we yu want ɔltɛm na yu an: Dɛn tin ya kin sev yu layf. Yu fɔ ebul fɔ no we yu pikin nid dɛn mɛrɛsin ya. Yu fɔ no bak aw fɔ gi dɛn. Yu dɔktɔ go tɛl yu mɔ bɔt dis.
• Nɔ trit HAE atak lɛk alɛji: Mɛrɛsin lɛk antihistamine ɛn epinephrine, we dɛn kin gi fɔ alɛji, nɔ go ɛp HAE atak. So, nɔ gi yu pikin dɛn mɛrɛsin ya.
• Yu fɔ no bɔt di tin dɛn we kin mek pɔsin atak pɔsin: Di tin dɛn we kin mek pɔsin atak pɔsin kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Mek wan list fɔ tin dɛm wae kin mek yu pikin atak ɛn sheb am wit yu dɔktɔ. Tray fɔ mek yu pikin nɔ gɛt dɛn tin dɛn de we kin mek yu pikin nɔ gɛt dis sik as yu ebul. If yu nɔ ebul fɔ avɔyd dɛn, aks yu dɔktɔ bɔt di mɛrɛsin dɛn we yu go yuz fɔ protɛkt yusɛf.

Ustɛm yu nid fɔ go to dɔktɔ?

Si dɔktɔ pan dɛn kayn tin ya:

• If yu tink se yu pikin gɛt simptom dɛm fɔ `Hereditary Angioedema`.
• If nyu simptom dɛm wae gɛt fɔ du wit HAE atak apin, ɔr if di simptom dɛm wae dɔn de chenj.
• If i tan lɛk se yu pikin in mɛrɛsin nɔ de wok lɛk aw dɛn bin de tink.

Ustɛm yu nid fɔ go na di imejensi rum?

If yu pikin gɛt ɛni wan pan dɛn tin ya , go na di imejensi rum wantɛm wantɛm:

• If i at fɔ swɛla.
• If yu gɛt prɔblɛm fɔ blo.
• If yu si ɛni sayn fɔ swel na yu tɔŋ ɔ yu trot (ivin if dɛn gi yu mɛrɛsin di fɔs sayn dɛm fɔ atak).

Dɛn tin ya kin bi sayn fɔ se yu pikin de swel we de afɛkt di we aw yu pikin de blo. Nɔ delay fɔ go fɛn tritmɛnt. Dis swɛlin kin mek pɔsin in layf de pan denja.

Us kwɛstyɔn dɛn yu fɔ aks di dɔktɔ?

Yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Us kayn HAE mi pikin gɛt?
• Us tritmɛnt yu kin advays?
• Aw a go no we mi pikin nid mɛrɛsin we dɛn nid?
• Mi pikin nid mɛrɛsin fɔ mek i nɔ gɛt dis sik? If na so i bi, ustɛm?
• Ɛni tin dɛn de we mi pikin fɔ avɔyd fɔ du ɔ tin dɛn we i fɔ du?
• wetin yu kin se boht mi pikin in fiuja (outlook)?

Aw wi go gɛt op fɔ pikin we gɛt HAE?

HAE na wan sik we pɔsin kin gɛt fɔ ɔl in layf. Bɔt tritmɛnt kin ridyus di impak we di sik kin gɛt pan pikin in layf. I kin ridyus bak di risk fɔ gɛt sik dɛn we kin mek i day, lɛk we di pikin in aywe dɛn kin swel.

Yu tink se dɛn kin mek dɛn nɔ gɛt HAE?

Naw, no we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt HAE. If yu ɔ yu patna gɛt HAE ɛn yu de tray fɔ bɔn pikin, .I fayn fɔ tɔk to pɔsin we de advays yu bɔt yu pikin so dat yu go ɔndastand di chans we yu pikin gɛt fɔ gɛt dis sik.

Wan impɔtant mɛsej fɔ yu.

We yu no se yu pikin gɛt jɛnɛtik kɔndishɔn lɛk HAE, yu kin fil difrɛn kayn filin: frayd, wɔri, kɔnfyushɔn, ɛn pwɛl at. Yu kin ivin blem yusɛf. Bɔt di impɔtant tin we yu fɔ no na dat dis diagnosis nɔto yu fɔlt.

Jɛnɛtik muteshon kin apin ɔltɛm, bɔku tɛm fɔ no rizin. Yu nɔ go ebul fɔ kɔntrol di jin dɛn we yu pikin gɛt. Bɔt yu kin ple aktif rol fɔ kia fɔ yu pikin – sɔmtɛm na jɔs fɔ mek dɛn biliv se "yu go fayn."

I kin fayn bak fɔ jɔyn di grup dɛn we de sɔpɔt di wan dɛn we sik. Fɔ tɔk to mama ɛn papa dɛm fɔ pikin dɛm wae gɛt HAE, ɛn bak to big pipul dɛm wae gɛt dis sik, kin gi yu advays ɛn lisin to yu yes. I kin mɛmba yu bak se pan ɔl we HAE nɔ kin bɔku, nɔto yu famili nɔmɔ de.

` Hεreditary Angioedema, HAE, swεla, C1 inhibito, jεnεtik sik dεm, swεla na pikin dεm, angioedema