Yu gɛt hATTR Amyloidosis? Lɛ wi rɛdi fɔ yu fɔs dɔktɔ apɔntinmɛnt

Na nɔmal tin fɔ fil fɔ fred, kɔnfyus, ɛn gɛt bɔku kwɛstyɔn we yu kam fɔ no se yu gɛt wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl ‘ hATTR amyloidosis ’. Nɔ fred, ilɛksɛf di nem tan lɛk se i kɔmplikt smɔl. Insay dis atikul, wi go tray fɔ ɛksplen am to yu simpul we. Ɛspɛshali if dis na yu fɔs tɛm fɔ go to dɔktɔ bɔt dis sik, wi go tɔk bɔt aw fɔ pripia fɔ am di bɛst we.

Fɔ tɔk am simpul wan, wetin na hATTR Amyloidosis?

Fɔ tɔk am simpul wan, na sik we wi kin gɛt frɔm wi mama ɛn papa we kin kam bikɔs wan jin we dɛn kɔl TTR chenj ɔ chenj na wi bɔdi. dis jεnεtik mכtεshכn de mek wan abnכmal protin we dεn kכl amyloid fכm na wi bכdi.

Tink bɔt am lɛk dreyn we dɔn lɔk, dɛn amyloid protin ya kin bigin fɔ gɛda smɔl smɔl na impɔtant ɔgan dɛn lɛk wi at, kidni, nervɔs sistɛm, ɛn dijestiv sistɛm. We dɛn de bil, dɛn ɔgan dɛn de nɔ kin ebul fɔ du dɛn nɔmal wok fayn fayn wan. Na da tɛm de di sayn dɛm kin bigin fɔ sho.

Aw yu kin pripia bifo yu go to dɔktɔ?

I rili impɔtant fɔ mek yu pripia smɔl bifo yu go to yu fɔs dɔktɔ. Pe atɛnshɔn to dɛn tin ya.

1. No yu famili in wɛlbɔdi istri kɔrɛkt wan

Dis na di tin we impɔtant pas ɔl. hATTR Amyloidosis na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa. Insay mɛrɛsin, wi kin kɔl am ‘ɔtosomal dominant’. Dis min se if wan pan yu mama ɛn papa gɛt di jin muteshon we gɛt fɔ du wit dis sik, yu gɛt 50% chans fɔ gɛt am bak.

So, if yu mama, yu papa, yu brɔda ɛn sista dɛn, ɔ yu pikin dɛn gɛt dis sik, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks, ilɛksɛf yu nɔ gɛt ɛni sayn.

2. Tek ɔl di tɛst ripɔt dɛn we yu gɛt wit yu.

If yu dɔn ɔlrɛdi gɛt jenɛtik tɛst, lɛk blɔd tɛst ɔ saliva tɛst, we de luk fɔ di TTR jin, mek shɔ se yu kam wit ɔl dɛn ripɔt dɛn de. i pas 120 TTR jin mכtεshכn dεm . Sɔm jin chenj dɛn kin apin mɔ na sɔm etnik grup dɛn.

Us tɛst dɛn di dɔktɔ kin ɔda?

If yu tink se yu gɛt dis sik ɔ dɛn dɔn no se yu gɛt dis sik, yu dɔktɔ go fɔs chɛk yu gud gud wan (fyzikal ɛgzam). Apat frɔm dat, dɛn kin ɔda fɔ du dɛn tɛst ya fɔ no if di sik de go bifo ɛn fɔ wach aw i de go bifo:

• Bayopsi : Dis na di tɛst we impɔtant pas ɔl fɔ kɔnfɔm di sik. dis kin involv fכ tek wan rili sכm pat pan yu bכdi כ כda εria εn egzamin am כnda maykroskכp fכ si if eni amyloid dεposit dεm de.
• Blɔd ɛn urine tɛst: Dɛn tɛst ya kin luk fɔ sɔm patikyula prɔtin dɛn na di blɔd ɔ urine we kin sho se dis sik de.
• Scintigraphy: Dis na spɛshal skan fɔ chɛk fɔ si if amyloid de na di at.
• Fɔ chɛk aw di at de wok : We dɛn dɔn no se di sik de, dɛn kin du skan lɛk ɛkokadiogram ɔ kadyak MRI fɔ si aw bɔku damej dɔn apin to di at.
• Nεv kכndukshכn tεst dεm: dεn tεst dεm ya de εp fכ no if nεv dεm de damej.

Di dɔktɔ de aks bɔt yu sik dɛn!

Di dɔktɔ go mɔs aks yu se, "Aw yu de fil?" I rili impɔtant fɔ tɛl am bɔt ɛni sayn we yu go gɛt, ivin di smɔl wan dɛn. Dis na bikɔs dis sik kin afɛkt bɔku pat na di bɔdi. If yu gɛt ɛni wan pan dɛn sayn ya, tɛl yu dɔktɔ bɔt dɛn.

Wetin na di tritmɛnt dɛm fɔ dis?

Bɔku ia bifo dis tɛm, di wangren tritmɛnt fɔ dis sik na fɔ transplant liva . Bɔt gud tin na dat naw, bɔku mɛrɛsin dɛn de naw we go ebul fɔ kɔntrol aw dis sik de go bifo. Yu dɔktɔ go pik tritmɛnt bay tri tin dɛn:

1. Yu simptom dɛm

2. Ɔgan we dɛn afɛkt

3. Stej we di sik de

hATTR sik dεn kin kכl am insay fכ men stej dεm.

• Stej 0: .di TTR jin mכtεshכn de, bכt nכ simptom dεm de.
• Stej I: Yu kin waka nɔmal wan, bɔt sɔm kayn nyurolɔjik simptom dɛn de lɛk we yu de swɛla ɛn pen na yu leg ɛn fut.
• Stej II: I nid ɛp fɔ waka. Di nyurolɔjik simptom dɛm bak kin tranga pasmak na di an, leg, ɛn trɔnk.
• Stej III: Di sayn dɛm kin so bad dat dɛn kin de na wilchia ɔ bed.

Bɔku we dɛn de fɔ trit pɔsin:

• TTR jin saylεns dεm: dεn dכg dεm ya de wok bay we dεn de ridyus di prodakshכn fכ di prכblεm TTR protin. Dis de ridyus di amyloid dipɔzishɔn. Ɛgzampul dɛn: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)`.
• TTR stεbyulayz dεm: dεn ya de wok bay we dεn de mek di TTR protin nכ fכ misfold εn fכm amyloid dεposit dεm. Ɛgzampul dɛn: `Tafamidis (Vyndamax, Vyndaqel)`.
• Amyloid fibril degraders: Dɛn drɔgs ya de ɛp fɔ brok di amyloid dipɔsit dɛm we dɔn ɔlrɛdi fɔm. Bɔku pan dɛn tin ya stil de na di risach pat.

Yu go rifer mi to ɔda spɛshal pipul dɛn?

Yɛs. Bikɔs dis sik kin afɛkt difrɛn pat dɛm na yu bɔdi, yu dɔktɔ kin sɛn yu to ɔda spɛshal pipul dɛm fɔ trit difrɛn sayn dɛm.

• Kardiɔlɔjis: Fɔ di at ritm ɛn at atak simptom dɛm.
• Gastroenterologist: Fɔ kɔndishɔn lɛk dayarɛa ɛn kɔnstipɛshɔn.
• Yurolɔjis: Fɔ prɔblɛm dɛn we gɛt fɔ du wit di urinary tract .
• Ay dɔktɔ: Fɔ prɔblɛm dɛn we gɛt fɔ du wit yu yay.
• Ɔtpidik spɛshal pɔsin: Fɔ kɔndishɔn dɛn lɛk kapal tanɛl sindrom.

Yu dɔktɔ go tɔk to yu bak bɔt di prɔgnosis fɔ di sik. Dis kin bi enisay frɔm 3 to 15 ia afta dɛn dɔn no di sik. Bɔt mɛmba se i dipen pan di patikyula jin we yu gɛt ɛn di ɔgan dɛn we i de afɛkt. As dɛn de du risach ɔltɛm bɔt nyu tritmɛnt dɛn, op de fɔ tumara bambay.