Yu no bɔt Erdheim-Chester Disease? Lɛ wi tɔk bɔt dis sik we nɔ kin apin so ɔltɛm!

Yu dɔn ɛva yɛri bɔt Erdheim-Chester Disease (ECD)? Yu go dɔn sɔprayz smɔl we yu yɛri dis nem. Bikɔs dis na sik we nɔ kin apin so ɔltɛm we dɛn nɔ kin si na di wɔl. Bɔt bikɔs i kin afɛkt difrɛn ɔgan dɛn na wi bɔdi, i rili valyu fɔ no dis smɔl. So tide, lɛ wi tɔk bɔt Erdheim-Chester Disease (ECD).

Wetin na di sik we dɛn kɔl Erdheim-Chester disease (ECD)?

Fɔ tɔk am simpul wan, Erdheim-Chester disease (ECD) na wan sik we nɔ kin bɔku na blɔd. I de pan wan grup fɔ sik dɛn we dɛn kɔl histiocytosis . Naw yu kin de wɔnda wetin na dɛn histiocytes ya. di histiosayt dεm na wan spεshal kayn sεl na wi imyun sistεm . Dɛn tan lɛk smɔl sojaman dɛn we de protɛkt wi bɔdi. Bɔku tɛm, dɛn sɛl ya kin de na say dɛn lɛk wi bon mɛro, blɔd, skin, lɔng, splin, ɛn liva.

Bɔt pan pɔsin we gɛt Erdheim-Chester disease (ECD), dɛn histiocytes ya kin gro we dɛn nɔ kin ebul fɔ kɔntrol . I tan lɛk se yu gɛt bɔku sojaman dɛn. dis ekstra histiosayt dεm de bigin fכ gro na difrεn pat dεm na di bכdi usay dεn nכ fכ gro. Dɔn dɛn kin mek tumbu ɛn pwɛl di tisu we gɛt wɛlbɔdi . Dis na wetin kin apin na ECD.

Aw dis sik kin bɔku?

As wi bin dɔn tɔk bifo tɛm, dis na sik we nɔ kin bɔku . Jɔs tink bɔt dis, frɔm we dɛn fɔs kam fɔ no dis sik insay 1930, na lɛk 800 pipul dɛn nɔmɔ dɔn gɛt di sik ɔlsay na di wɔl. Bɔt sɔm dɔktɔ dɛn biliv se dis nɔmba kin pas dat bikɔs sɔm pipul dɛn we gɛt dis sik nɔ kin no se dɛn gɛt dis sik. Dis kin bi bak bikɔs kɔntri dɛn ɔlsay na di wɔl naw nɔ gɛt wan kɔmɔn sistɛm fɔ kip rɛkɛd fɔ dɛn sik pipul ya.

Di sik we dɛn kɔl Erdheim-Chester disease (ECD) kin bɔku pan pipul dɛn we dɔn ol . Insay Amɛrika, di avɛrej ej we pɔsin kin ol fɔ no if i gɛt di sik na 46 ia. Bɔt dɛn dɔn ripɔt am pan pikin dɛn we rili yɔŋ. Wan ɔda tin na dat, man dɛn kin gɛt dis sik. Dɛn ripɔt se bitwin 70% ɛn 75% pan di sik pipul dɛn na man.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik?

Di we aw di sik we dɛn kɔl Erdheim-Chester disease (ECD) kin afɛkt ɛnibɔdi rili difrɛn . Dis min se nɔto ɔlman gɛt di sem sayn. di simptom dεm dipכnt pan us pat dεm na di bכdi we di histiocytes dεm we pasmak de pwεl, lεk aw wi bin se, εn us כgan sistεm dεm de afekt. Sɔmtɛm, de sik kin de wae nɔr de sho ɛni sayn (symptomatic). If na so i bi, di dɔktɔ kin gɛt klia tin bɔt am frɔm skan (`imaging`) ɔ blɔd tɛst (`lab tests`) we dɛn kin du fɔ ɔda rizin.

Lɛ wi luk di ɔgan sistɛm dɛm we de afɛkt mɔ ɛn di sayn dɛm we gɛt fɔ du wit dɛn.

Aw i kin afɛkt di bon dɛn

ECD kin mek di bon dεm tik abnכmal (osteosclerosis). Sɔntɛnde dis kin mek yu bon pen . Di tin we kin sho se yu gɛt dis sik pas ɔl na we yu bon dɛn kin tik ɛn pen, mɔ na di tu leg dɛn . Yu kin si dis bon we de tik klia wan pan skan.

Efεkt pan di kidni dεm

di kidni dεm εn di tisu dεm we de rawnd (di `retroperitoneum`) kin dεm bak bay dεn histiocytes dεm ya. Dis kin mek yu gɛt tin dɛn lɛk:

• Kidni we de swel.
• Kidni atrofi.
• Renal we nɔ de wok fayn.

ifekt pan di εndokrin sistεm (hכmon sistεm) .

if dεn histiocytes dεm ya de pwεl di gland dεm we de mek כmon dεm we de kכntro difrεn prכsεs dεm na wi bכdi, difrεn כmon prכblεm dεm kin kam. Di sayn dɛm kin difrɛn difrɛn wan bay di gland we dɔn pwɛl.

• if di pituitary gland dεn dכn pwεl: I dכn dכn prodyuz wan כ mכr pituitary hכmon dεm (hypopituitarism).
• If di tayroyd gland dɔn pwɛl: Di tayroyd ɔmon dɛn we de go dɔŋ (haypothayroydism).
• if di gonad dεm dכn dכn: di lεvεl dεm fכ di sεks כmon dεm (lεk tεstostεron εn εstrojen) dεn dכn dכn (`hypogonadism`).
• If di adrenal gland dɔn pwɛl: Di adrenal ɔmon dɛn we de dɔŋ (adrenal insufficiency).

If di pituitary gland pwɛl, i kin mek yu gɛt wan sik we dɛn kɔl dayabitis insipidus , we kin mek yu gɛt sɔm sayn dɛn lɛk fɔ pis ɔltɛm ɛn fɔ tɔsti pasmak. Dɛn dɔn si se lɛk af pan di wan dɛn we gɛt ECD kin gɛt dis sik bak.

Efεkt pan di nεv sεstem

di histiocytes dεm kin pwεl wi bren εn nεv sεstem bak. Dɔn yu kin si sayn dɛn lɛk:

• Lכs bεlε we yu de waka, prכblεm wit kכdכnayshכn (ataxia).
• Slɔr tɔk (dysarthria) bikɔs i nɔ ebul fɔ kɔntrol di mɔsul dɛn we yu de tɔk.
• I nɔ kin izi fɔ tink, fɔ pe atɛnshɔn, ɔ fɔ mɛmba.
• Ed de at.

Ifɛkt pan di yay dɛn

ECD kin afɛkt wan ɔ ɔl tu di yay dɛn.

• Yɔlɔ, sɔft lumps na di aylid dɛn (xanthelasma).
• di aylid dεm we de kכmכt (proptosis).
• Ay pen.
• I nɔ de si bɛtɛ ɔ i nɔ de si igen.

Efεkt pan di rεspiretכri sistεm

Pan ɔl we dɛn skan dɛn sho se dɛn histiocytes ya kin afɛkt di lɔng dɛn, bɔku tɛm di sayn dɛn nɔ kin apin . Bɔt if di sayn dɛn kin apin, dɛn kin gɛt:

• Kɔf.
• I nɔ izi fɔ blo (dyspnea).

If dɛn nɔ trit am fayn , i kin mek di lɔng dɛn gɛt skata fɔ ɔltɛm (pulmonary fibrosis), we na siriɔs sik.

Efεkt pan di kכdivaskyul sistεm

Yu dɔktɔ kin si bak pan skan se di histiocytes dɔn afɛkt yu at ɛn blɔd vesel dɛn. Dis kin mek pɔsin in layf de pan denja if dɛn nɔ trit am. ECD kin mek dɛn tin ya:

• di sak we de rawnd di at de swεla (pεrikardial efyushכn).
• di hεy blכd prεshכn (rεnal haypatεnshכn) kin apin biכs di bכdi fכ fכlכ di kidni dεm.
• At we nɔ de wok fayn.

Ifekt pan di skin

di men sayn we yu kin si pan di skin na yכlכ bכmp (`xanthelasma`) we de sho na di aylid dεm. Apat frɔm dat, yu kin si yɔlɔ-brawn bɔmp dɛn bak na dɛn ples ya:

• Na di fes.
• Na di nɛk.
• Chɛst ɛn bɛlɛ (`Torso`).
• Na di groin eria.

pan tap dat, dεn histiosayt dεm ya we pasmak kin kכmכt εn pwεl di tisu dεm na ples dεm lεk di splin, di liva, εn di bon mכro.

Wetin na de tin wae kin mek pɔrsin gɛt dis sik?

naw wi no se ECD na sik we di histiosayt dεm de mכltiply we dεn nכ de kכntro, de spre, εn de pwεl di hεlty tisu εn כgan dεm. Bɔt sayɛnsman dɛn stil nɔ no di rayt tin we mek dɛn sɛl dɛn ya de gro we dɛn nɔ ebul fɔ kɔntrol. Bɔt sɔm risach we dɛn jɔs dɔn du dɔn sho se sɔm jin dɛn we kin chenj na di jin kin ɛp fɔ du sɔntin.

dεn fכnshכn se mכr dan haf pan di pipul dεm we gεt Erdheim-Chester disease (ECD) gεt wan mכtεshכn na di BRAF jin, we de mek di histiocytes gro we dεn nכ ebul fכ kכntro.

pan ɔl we di BRAF jin na di mɔs kɔmɔn muteshon, sayɛnsman dɛn dɔn no sɔm ɔda jɛnɛtik muteshɔn dɛn we gɛt fɔ du wit ECD. Dɛn tin ya we dɛn dɔn fɛn dɔn mek sayɛnsman dɛn ebul fɔ mek tritmɛnt dɛn we de tɔch dɛn jin dɛn de we dɔn chenj ɛn stɔp di we aw di histiocytes nɔ de gro fayn fayn wan.

Aw dɛn kin no dis sik?

Bikɔs ECD na sik we nɔ kin bɔku ɛn di sayn dɛn kin difrɛn frɔm wan pɔsin to ɔda pɔsin, dɔktɔ dɛn nɔ kin sɔprayz wantɛm wantɛm se i gɛt dis sik. So, i kin tek sɔm tɛm fɔ gɛt diagnosis . Yu go nid fɔ go to bɔku dɔktɔ dɛn.

Yu dɔktɔ go tink bɔt yu sik dɛn wit di rizɔlt fɔ sɔm ɔda tɛst dɛn fɔ no if yu gɛt ECD. Dɛn tin ya na sɔm pan de tin wae kin ɛp yu fɔ no if yu gɛt dis sik:

• di we aw dεn de tek imej: dεn kin yuz difrεn skan dεm (X-ray, bon skan, PET skan, CT skan, MRI) fכ si usay insay di bכdi dεn histiocytes ya dכn invayd di tisu. Dɛn kin sho bak se di sɔft tisu dɛm lɛk di bren, di chɛst, ɛn di ɔgan dɛm na di bɛlɛ dɔn pwɛl.
• Labɔrɔtɔri tɛst dɛn:Dɛn tɛst ya kin no sɔm prɔblɛm dɛn we de wit di ɔgan dɛn we de wok (we kin gɛt fɔ du wit ECD), ɛn dɛn kin chɛk bak fɔ tin dɛn lɛk inflamɛns, di blɔd sɛl dɛn we nɔ de wok fayn, ɛn di chenj we di ɔmon dɛn de chenj.
• Bayopsi: Bayopsi involv fɔ tek smɔl sampul pan di tisu we afɛkt ɛn chɛk am ɔnda maykroskɔp. afta dat dεn de tεst di sεl dεm fכ sayn dεm fכ ECD εn fכ jεnεtik mכtεshכn lεk BRAF. We yu no di kayn we aw dɛn sɛl ya de, dat go ɛp yu dɔktɔ fɔ disayd us tritmɛnt go fayn fɔ yu.

Wetin na di tritmɛnt dɛn?

If yu nɔ gɛt ɛni sayn ɛn yu ECD nɔ de afɛkt yu wɛlbɔdi, yu dɔktɔ kin disayd fɔ wach yu sik. Bɔt bɔku pipul dɛn we gɛt ECD go nid tritmɛnt . Pan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, bɔku tritmɛnt dɛn de we go ɛp fɔ mɛn di sik.

Na di men we dɛn fɔ trit am:

• Targeted therapy: Dis involv fɔ yuz drɔgs we de target di jenɛtik mutations we de mek di histiocytes multiply we dɛn nɔ ebul fɔ kɔntrol. Di FDA dɔn gri fɔ wan mɛrɛsin we dɛn kɔl Vemurafenib fɔ ECD pasɛnt dɛn we gɛt di BRAF jin muteshɔn, ɛn wan mɛrɛsin we dɛn kɔl Cobimetinib fɔ di wan dɛn we gɛt di MEK jin muteshɔn. Dipen pan di kayn mutation na yu sɛl dɛm, yu dɔktɔ kin tɛl yu fɔ tek dɛn mɛrɛsin ya ɔ ɔda mɛrɛsin dɛn we yu want fɔ tek ɔ fɔ mek yu yuz mɛrɛsin.
• Immunotherapy: Dɛn drɔgs ya de ɛp wi imyun sistɛm fɔ no ɛn fɛt di kansa sɛl dɛn (insay dis kes, abnɔmal histiocytes). Intafɛron-alfa na wan imyunotɛrapi drɔg we dɛn kin yuz fɔ ECD.
• Kimotɛrapi: Kimotɛrapi de yuz drɔgs fɔ kil di kansa sɛl dɛm (abnɔmal sɛl dɛm) ɔlsay na di bɔdi ɛn stɔp di tumor dɛm we de gro. Di mɔs kɔmɔn kemotɛrapi mɛrɛsin we dɛn kin yuz fɔ ECD na kladribin . Bɔt yu dɔktɔ kin tɛl yu fɔ tek ɔda kemotɛrapi mɛrɛsin ɔ fɔ yuz ɔda mɛrɛsin dɛn we yu kin yuz togɛda.

Apat frɔm dɛn men tritmɛnt ya, yu dɔktɔ kin tɛl yu ɔda tritmɛnt dɛn fɔ ɛp fɔ mek yu nɔ gɛt di sik. pan ɔl we dɛn tritmɛnt ya nɔ go stɔp di histiocytes fɔ invayd yu tisu dɛm, dɛn kin ɛp fɔ ridyus di diskɔmfɔt we yu de fil.

• Ɔpreshɔn: Dɛn kin nid ɔpreshɔn fɔ mek sɔm pan di tisu dɛn we dɔn pwɛl bikɔs ɔf ECD. fכ egzampl, inflameshn εn di tisu dεm we dεn dכn pwεl kin blכk di tכb dεm we de kכri urine (ureters). If dis apin, dɛn kin nid fɔ du ɔpreshɔn fɔ mek i fayn.
• Redyushɔn tɛrapi: .Dɛn kin se dɛn fɔ yuz redyushɔn tɛrapi fɔ pwɛl di sɛl dɛn we nɔ de na wan patikyula say na di bɔdi ɛn fɔ ridyus di sayn dɛn we nɔ kin fayn we dɛn kin gɛt.
• Kɔtikosterɔyd: Dɛn drɔgs ya kin ridyus di inflamɛns we kin kam bikɔs di histiɔsayt dɛn kin kam insay.

Yu kin gɛt di chans bak fɔ tek pat pan wan klinik trial . Klinik trial na wan stɔdi we de tɛst di sef ɛn ifektiv we nyu tritmɛnt ɛn nyu tritmɛnt kɔmbaynshɔn dɛn gɛt. Aks yu dɔktɔ if yu kin tek pat pan klinik trial fɔ Erdheim-Chester disease (ECD).

Yu tink se dɛn go ebul fɔ stɔp dis?

Bɔt i sɔri fɔ no se, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Erdheim-Chester disease (ECD). Bɔt, dɛn kin ebul fɔ mɛn di sik bɔku tɛm wit tritmɛnt.

Aw lɔŋ yu kin liv wit dis sik?

Yu prɔgnosis de dipen pan us pat na yu bɔdi we di histiocytes de afɛkt ɛn aw yu de ansa to tritmɛnt. Bɔt wit di divɛlɔpmɛnt fɔ nyu tritmɛnt dɛm, lɛk targeted therapy, di sɔvayv autkam dɛm we gɛt fɔ du wit ECD dɔn impɔtant naw.

Imajin, insay 1996, di fayv ia sɔvayv rɛt fɔ ECD pasɛnt dɛn na bin 43% nɔmɔ. Bɔt wan stɔdi we dɛn jɔs du, sho se da nɔmba de dɔn go ɔp to 83%!

Tɔk to yu dɔktɔ bɔt aw yu sik go bi tumara bambay bay aw yu de fil ɛn aw yu de du tritmɛnt.

Ustɛm yu fɔ go to dɔktɔ?

ECD nid fɔ kɔntinyu fɔ gɛt tritmɛnt ɛn fɔ wach am . Yu dɔktɔ go advays yu bɔt aw ɔltɛm yu fɔ go to yu dɔktɔ, ɛn if yu fɔ du skan ɛn blɔd tɛst.

Bɔku tritmɛnt fɔ ECD kin mek yu gɛt bad bad tin dɛn we nɔ fayn . Apat frɔm yu ECD tritmɛnt tim, fɔ gɛt ɛp frɔm wan palliativ kia tim kin ɛp yu fɔ manej di sayd ɛfɛkt dɛm fɔ dɛn tritmɛnt ya ɛn fɔ bia wit di strɛs we kin kam wit di diagnosis.

Fɔ dɔn, di tin we impɔtant pas ɔl (Take-Home Message) .

Erdheim-Chester disease (ECD) na wan kכndyushכn we de afekt εvri pכsin difrεnt wan, we de kכz fכ כva prodyushכn fכ di histiocytes, we de pwεl di tisu. De sayn ɛn sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dɛn tin ya kin afɛkt yu ɔl yu ɛkspiriɛns, ivin di tritmɛnt dɛm wae de.

Bɔt, fɔtunate wan, wit di tin dɛn we dɛn dɔn du dis biɛn tɛm, sayɛnsman dɛn dɔn ebul fɔ fɛn tritmɛnt dɛn we go ɛp fɔ mek pipul dɛn no bɔt ECD.Tɔk wit yu dɔktɔ opin wan bɔt di tritmɛnt dɛn we yu go ebul fɔ du ɛn di tin dɛn we yu go ebul fɔ du, bay di patikyula tin dɛn we yu gɛt. Mɛmba se ivin pan dis kayn tin we nɔ kin apin so ɔltɛm, yu kin go bifo tranga wan wit di rayt advays ɛn sɔpɔt we di dɔktɔ gi yu.

` Erdheim-Chester sik, ECD, histiocytosis, sik dεm we nכ kin apin, jεnεtik mכtεshכn, BRAF, simptom dεm, tritmεnt