Ua ʻike anei ʻoe i ka maʻi ʻo Erdheim-Chester? E kamaʻilio kākou e pili ana i kēia maʻi laha ʻole!

Ua lohe paha ʻoe i ka maʻi ʻo Erdheim-Chester (ECD)? Ua kahaha iki paha ʻoe i kou lohe ʻana i kēia inoa. No ka mea , he maʻi laha ʻole kēia i ʻike pinepine ʻole ʻia ma ka honua. Eia nō naʻe, no ka mea hiki iā ia ke hoʻopilikia i nā ʻōnaehana like ʻole o ko mākou kino, he mea waiwai nui ia e ʻike iki i kēia. No laila, i kēia lā, e kamaʻilio kākou e pili ana i ka maʻi ʻo Erdheim-Chester (ECD).

He aha ka maʻi ʻo Erdheim-Chester (ECD)?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Erdheim-Chester (ECD) he maʻi koko kakaikahi loa. No loko ia o kahi hui o nā maʻi i kapa ʻia ʻo histiocytosis . I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia mau histiocytes. He ʻano kūikawā nā Histiocytes o nā cell i loko o kā mākou ʻōnaehana pale . Ua like lākou me nā koa liʻiliʻi e pale ana i ko mākou kino. Loaʻa pinepine kēia mau cell ma nā wahi e like me ko mākou iwi iwi, ke koko, ka ʻili, nā māmā, ka spleen, a me ke akepaʻa.

Eia nō naʻe, i loko o ke kanaka me ka maʻi Erdheim-Chester (ECD), ulu nui kēia mau histiocytes me ke kāohi ʻole ʻia . Ua like ia me ka nui o nā koa. Hoʻomaka kēia mau histiocytes keu e ulu ma nā ʻāpana like ʻole o ke kino kahi i pono ʻole ai. A laila hiki iā lākou ke hana i nā puʻupuʻu a hōʻino i nā ʻiʻo olakino . ʻO kēia ka mea e hana nei ma ECD.

Pehea ka maʻamau o kēia maʻi?

E like me kā mākou i ʻōlelo ai ma mua, he maʻi laha ʻole kēia. E noʻonoʻo wale, mai ka wā i ʻike mua ʻia ai ka maʻi i ka makahiki 1930, aia ma kahi o 800 mau hihia i hōʻike ʻia ma ka honua holoʻokoʻa. Eia nō naʻe, manaʻo kekahi mau kauka he ʻoi aku ka kiʻekiʻe o kēia helu no ka mea ʻaʻole i ʻike pono ʻia kekahi poʻe me kēia maʻi. Hiki paha kēia ma muli o ka ʻoiaʻiʻo ʻaʻohe ʻōnaehana maʻamau o nā ʻāina a puni ka honua no ka mālama ʻana i nā moʻolelo o kēia mau maʻi.

ʻO ka maʻi ʻo Erdheim-Chester (ECD) ka mea maʻamau i nā pākeke waena . Ma ʻAmelika Hui Pū ʻIa, ʻo ka awelika o ka makahiki o ka ʻike ʻia ʻana he 46 mau makahiki. Eia nō naʻe, ua hōʻike ʻia i nā keiki ʻōpio loa. ʻO kekahi mea ʻē aʻe, ʻoi aku ka nui o ka loaʻa ʻana o ka maʻi i nā kāne . Ua hōʻike ʻia ma waena o 70% a me 75% o nā maʻi he kāne.

He aha nā hōʻailona?

ʻOkoʻa loa ke ʻano o ka maʻi Erdheim-Chester (ECD) i kēlā me kēia kanaka. ʻO ke ʻano kēia, ʻaʻole like nā hōʻailona o kēlā me kēia kanaka. Pili nā hōʻailona i nā ʻāpana o ke kino i hōʻino ʻia e nā histiocytes keu, e like me kā mākou i ʻōlelo ai ma mua, a me nā ʻōnaehana okana i hoʻopilikia ʻia. I kekahi manawa, hiki ke loaʻa ka maʻi me ka ʻole o ka hōʻike ʻana i kekahi mau hōʻailona (asymptomatic). I kēlā hihia, loaʻa i ke kauka kahi kuhi e pili ana iā ia mai kahi scan (`imaging`) a i ʻole nā ​​​​hoʻāʻo koko (`lab tests`) i hana ʻia no kekahi kumu ʻē aʻe.

E nānā kākou i nā ʻōnaehana okana i hoʻopilikia nui ʻia a me nā hōʻailona e pili ana me lākou.

Pehea e pili ai i nā iwi

Hiki i ka ECD ke hoʻoulu i ka mānoanoa maʻamau ʻole o nā iwi (osteosclerosis). I kekahi manawa hiki i kēia ke hōʻeha i ka iwi . ʻO ka hōʻailona maʻamau o kēia maʻi ka mānoanoa o ka iwi a me ka ʻeha, ʻoi aku hoʻi ma nā wāwae ʻelua . Hiki ke ʻike maopopo ʻia kēia mānoanoa o ka iwi ma nā scan.

Hopena ma nā puʻupaʻa

Hiki ke hōʻino ʻia ko kākou mau puʻupaʻa a me nā ʻiʻo a puni (ka 'retroperitoneum') e kēia mau histiocytes. Hiki i kēia ke alakaʻi i nā kūlana e like me:

• Pehu ʻana o ka puʻupaʻa.
• Ka emi ʻana o ka puʻupaʻa.
• Ka hāʻule ʻana o ka puʻupaʻa.

Hopena ma ka ʻōnaehana endocrine (ʻōnaehana hormone)

Inā hōʻino kēia mau histiocytes i nā glands e hana ana i nā hormones e kaohi ana i nā kaʻina hana like ʻole i loko o ko mākou kino, hiki ke kū mai nā pilikia hormonal like ʻole. ʻOkoʻa nā hōʻailona ma muli o ka gland i hōʻino ʻia.

• Inā ua hōʻino ʻia ka ʻōpū pituitary : Ka emi ʻana o ka hana ʻana o hoʻokahi a ʻoi aku paha mau hormones pituitary (hypopituitarism).
• Inā ua hōʻino ʻia ke kelepa thyroid : Ua emi nā hormones thyroid (hypothyroidism).
• Inā ua hōʻino ʻia nā gonads : Ua emi ka nui o nā hormones wahine (e like me ka testosterone a me ka estrogen) (`hypogonadism`).
• Inā ua hōʻino ʻia ke kelepa adrenal : Ua emi nā hormones adrenal (ka lawa ʻole o ka adrenal).

ʻO ka hōʻino ʻana i ka pituitary gland hiki ke hana i kahi maʻi i kapa ʻia ʻo diabetes insipidus , kahi e hoʻoulu ai i nā hōʻailona e like me ka mimi pinepine a me ka makewai nui. Ua ʻike ʻia aia ma kahi o ka hapalua o nā maʻi ECD i loaʻa pū kekahi i kēia maʻi.

Hopena ma ka ʻōnaehana nerve

Hiki ke hōʻino ʻia ko mākou lolo a me ka ʻōnaehana nerve e kēia mau histiocytes. A laila e ʻike paha ʻoe i nā hōʻailona e like me:

• ʻO ka nalowale o ke kaulike i ka wā e hele ana, nā pilikia me ka hoʻonohonoho ʻana (ataxia).
• ʻŌlelo ʻole (dysarthria) ma muli o ka hiki ʻole ke kaohi i nā ʻiʻo i ka wā e ʻōlelo ana.
• Ka paʻakikī i ka noʻonoʻo ʻana, ... a i ʻole ka hoʻomanaʻo ʻana.
• ʻEha poʻo.

Hopena ma nā maka

Hiki i ka ECD ke hoʻopili i hoʻokahi a i ʻole nā ​​​​maka ʻelua.

• Nā puʻupuʻu melemele a palupalu ma nā lihilihi (xanthelasma).
• Ka puka ʻana o nā lihilihi maka (proptosis).
• ʻEha maka.
• Ka emi ʻana a i ʻole ka nalowale ʻana o ka ʻike.

Hopena ma ka ʻōnaehana hanu

ʻOiai ke hōʻike nei nā scans ua hoʻopilikia ʻia nā māmā e kēia mau histiocytes, ʻaʻole pinepine nā hōʻailona e ʻike ʻia . Eia nō naʻe, inā ʻike ʻia nā hōʻailona, ​​​​hiki iā lākou ke komo pū me:

• Kuke.
• Ka paʻakikī o ka hanu ʻana (dyspnea).

Inā ʻaʻole i mālama pono ʻia , hiki iā ia ke alakaʻi i ka ʻeha mau loa o nā māmā (pulmonary fibrosis), kahi maʻi koʻikoʻi.

Hopena ma ka ʻōnaehana cardiovascular

Hiki paha i kāu kauka ke ʻike ma nā scan ua hoʻopilikia nā histiocytes i kou puʻuwai a me nā kīʻaha koko. Hiki i kēia ke hoʻoweliweli i ke ola inā ʻaʻole mālama ʻia. Hiki i ka ECD ke hana i kēia mau mea:

• Ka pehu ʻana o ka ʻeke a puni ka puʻuwai (pericardial effusion).
• Hoʻāla ʻia ke koko kiʻekiʻe (renal hypertension) ma muli o ke kahe ʻana o ke koko i nā puʻupaʻa.
• Ka hāʻule ʻana o ka puʻuwai.

Ka hopena ma ka ʻili

ʻO ka hōʻailona nui i ʻike ʻia ma ka ʻili, ʻo ia nā puʻupuʻu melemele (`xanthelasma`) e kū mai ana ma nā lihilihi. Eia kekahi, hiki ke ʻike ʻia nā puʻupuʻu melemele-ʻeleʻele ma kēia mau wahi:

• Ma ka maka.
• Ma ka ʻāʻī.
• ʻUma a me ka ʻōpū (`Torso`).
• Ma ka ʻāpana ʻūhā.

Eia kekahi, hiki i kēia mau histiocytes keu ke hōʻiliʻili a hōʻino i nā ʻiʻo ma nā wahi e like me ka spleen, ate, a me ka iwi iwi.

He aha nā kumu o ka maʻi?

I kēia manawa, ua ʻike mākou he maʻi ka ECD kahi e hoʻonui nui ai nā histiocytes, laha, a hōʻino i nā ʻiʻo a me nā ʻōpū olakino. Eia nō naʻe, ʻaʻole maopopo i nā kānaka ʻepekema ke kumu e ulu nui ai kēia mau cell. Eia nō naʻe, ua ʻike ʻia e nā noiʻi hou he kuleana ko kekahi mau hoʻololi ʻana o nā genes .

Ua ʻike ʻia ma mua o ka hapalua o ka poʻe me ka maʻi Erdheim-Chester (ECD) he mutation i loko o ka gene BRAF, ka mea e ulu ai nā histiocytes me ka hiki ʻole ke kāohi.

ʻOiai ʻo ka gene BRAF ka mutation maʻamau, ua ʻike nā kānaka ʻepekema i kekahi mau mutations genetic ʻē aʻe e pili ana me ECD. Ua ʻae kēia mau ʻike i nā kānaka ʻepekema e hoʻomohala i nā lāʻau lapaʻau e kuhikuhi ana i kēlā mau genes mutated a hoʻōki i ka ulu ʻana o nā histiocytes.

Pehea e ʻike ʻia ai kēia maʻi?

No ka mea, he maʻi laha ʻole ka ECD a ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka, ʻaʻole paha e kānalua koke nā kauka i ke kūlana. No laila, hiki ke lōʻihi ka manawa e loaʻa ai kahi hōʻailona . Pono paha ʻoe e ʻike i kekahi mau kauka.

E noʻonoʻo kāu kauka i kāu mau hōʻailona me nā hopena o kekahi mau hoʻokolohua ʻē aʻe e hoʻoholo ai inā he ECD kou. Eia kekahi o nā mea e hiki ke kōkua iā ʻoe e hana i kahi hōʻailona:

• Nā kaʻina hana kiʻi: Hiki ke hoʻohana ʻia nā scan like ʻole (X-ray, bone scans, PET scans, CT scans, MRIs) e ʻike i kahi o ke kino i komo ai kēia mau histiocytes i loko o ke kino. Hiki iā lākou ke hōʻike i ka hōʻino ʻia o nā ʻiʻo palupalu e like me ka lolo, ka umauma, a me nā ʻōpū.
• Nā hoʻokolohua keʻena hoʻokolohua:Hiki i kēia mau hoʻokolohua ke ʻike i kekahi mau pilikia me ka hana o ke kino (e pili ana paha i ka ECD), a me ka nānā ʻana i nā mea e like me ka mumū, nā ʻano ʻino o ka helu ʻana o nā cell koko, a me nā loli i nā pae hormone.
• Biopsy: ʻO ka biopsy e pili ana i ka lawe ʻana i kahi laʻana liʻiliʻi o nā ʻiʻo i hoʻopilikia ʻia a nānā iā ia ma lalo o kahi microscope. A laila hoʻāʻo ʻia nā cell no nā hōʻailona o ECD a no nā hoʻololi genetic e like me BRAF. ʻO ka ʻike ʻana i nā ʻano o kēia mau cell e hiki ke kōkua i kāu kauka e hoʻoholo i ka lāʻau lapaʻau maikaʻi loa iā ʻoe.

He aha nā lāʻau lapaʻau?

Inā ʻaʻohe ou hōʻailona a ʻaʻole hoʻopilikia kāu ECD i kou olakino, hiki i kāu kauka ke hoʻoholo e nānā i kou kūlana. Eia nō naʻe, pono ka hapa nui o ka poʻe me ECD i ka lāʻau lapaʻau . ʻOiai ʻaʻohe lāʻau lapaʻau, aia kekahi mau lāʻau lapaʻau e hiki ke kōkua i ka mālama ʻana i ke kūlana.

Eia nā ʻano lapaʻau nui:

• ʻO ka lāʻau lapaʻau i kuhikuhi ʻia: Pili kēia i ka hoʻohana ʻana i nā lāʻau lapaʻau e kuhikuhi ana i nā hoʻololi genetic e hoʻoulu ai i nā histiocytes e hoʻonui me ka ʻole o ke kāohi. Ua ʻāpono ka FDA i kahi lāʻau i kapa ʻia ʻo Vemurafenib no nā poʻe maʻi ECD me ka hoʻololi ʻana o ka gene BRAF, a me kahi lāʻau i kapa ʻia ʻo Cobimetinib no ka poʻe me ka hoʻololi ʻana o ka gene MEK. Ma muli o ke ʻano o ka hoʻololi ʻana i loko o kāu mau cell, hiki i kāu kauka ke paipai i kēia mau lāʻau lapaʻau a i ʻole nā ​​​​hui lāʻau lapaʻau ʻē aʻe.
• Immunotherapy: Kōkua kēia mau lāʻau i kā mākou ʻōnaehana pale kino e ʻike maikaʻi a hakakā i nā hunaola kanesa (i kēia hihia, nā histiocytes ʻano ʻē). ʻO Interferon-alpha kahi lāʻau immunotherapy i hoʻohana pinepine ʻia no ECD.
• Kemoterapi: Hoʻohana ke kemoterapi i nā lāʻau lapaʻau e pepehi i nā hunaola kanesa (nā hunaola maʻamau) ma ke kino a hoʻōki i ka ulu ʻana o nā puʻupuʻu. ʻO ka lāʻau kemoterapi maʻamau i hoʻohana ʻia no ka ECD ʻo ia ka cladribine . Eia nō naʻe, hiki i kāu kauka ke paipai i nā lāʻau kemoterapi ʻē aʻe a i ʻole nā ​​hui pū ʻana o nā lāʻau lapaʻau.

Ma waho aʻe o kēia mau lāʻau lapaʻau nui, hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau ʻē aʻe e kōkua i ka hōʻoluʻolu ʻana i kāu mau hōʻailona. ʻOiai ʻaʻole e pale kēia mau lāʻau lapaʻau i nā histiocytes mai ke komo ʻana i kāu mau ʻiʻo, hiki iā lākou ke kōkua i ka hōʻemi ʻana i ka ʻoluʻolu ʻole āu e manaʻo ai.

• ʻOki: Pono paha ke ʻoki ʻana e hoʻoponopono i kekahi o nā ʻiʻo i hōʻino ʻia e ka ECD. No ka laʻana, hiki i ka mumū a me nā ʻiʻo i hōʻino ʻia ke ālai i nā ʻōmole e lawe ana i ka mimi (ureters). Inā hana ʻia kēia, pono paha ke ʻoki ʻana e hoʻoponopono iā ia.
• Hoʻōla radiation:Hiki ke ʻōlelo ʻia ka radiation therapy e luku i nā cell maʻamau ʻole ma kahi kikoʻī o ke kino a hōʻemi i nā hōʻailona ʻoluʻolu ʻole a lākou e hoʻoulu ai.
• Corticosteroids: Hiki i kēia mau lāʻau lapaʻau ke hōʻemi i ka mumū i hoʻokumu ʻia e ka infiltration o nā histiocytes.

Loaʻa paha iā ʻoe ka manawa kūpono e komo i kahi hoʻokolohua lapaʻau . ʻO kahi hoʻokolohua lapaʻau kahi haʻawina e hoʻāʻo ai i ka palekana a me ka pono o nā lāʻau lapaʻau hou a me nā hui lāʻau lapaʻau hou. E nīnau i kāu kauka inā hiki iā ʻoe ke komo i kahi hoʻokolohua lapaʻau no ka maʻi Erdheim-Chester (ECD).

Hiki ke pale ʻia kēia?

ʻO ka mea pōʻino, ʻaʻohe ala e pale aku ai i ka maʻi Erdheim-Chester (ECD). Eia nō naʻe, hiki ke mālama nui ʻia ka maʻi me ka lāʻau lapaʻau.

Pehea ka lōʻihi e hiki ai iā ʻoe ke ola me ka maʻi?

Aia kou wānana i nā ʻāpana o kou kino i hoʻopilikia ʻia e nā histiocytes a pehea ʻoe e pane ai i ka lāʻau lapaʻau. Eia nō naʻe, me ka hoʻomohala ʻana o nā lāʻau lapaʻau hou, e like me ka lāʻau lapaʻau i kuhikuhi ʻia, ua hoʻomaikaʻi nui ʻia nā hopena ola e pili ana me ECD.

E noʻonoʻo, i ka makahiki 1996, ʻo ka nui o ke ola ʻelima makahiki no nā poʻe maʻi ECD he 43% wale nō. Eia naʻe, e like me kahi noiʻi hou, ua piʻi kēlā helu i 83%!

E kamaʻilio me kāu kauka e pili ana i ke kaʻina hana o kou maʻi e hiki mai ana ma muli o kou kūlana a me ka pane ʻana i ka lāʻau lapaʻau.

Āhea ʻoe e ʻike ai i ke kauka?

Pono ka ECD i ka mālama mau ʻana a me ka nānā ʻana . E aʻo aku kāu kauka iā ʻoe i ka pinepine o kou ʻike ʻana i kāu kauka, a inā pono ʻoe e hana i nā scan a me nā hoʻāʻo koko.

Hiki i nā lāʻau lapaʻau he nui no ka ECD ke hana i nā hopena ʻaoʻao maikaʻi ʻole. Ma waho aʻe o kāu hui lapaʻau ECD, ʻo ka loaʻa ʻana o ke kōkua mai kahi hui mālama palliative hiki ke kōkua iā ʻoe e hoʻokele i nā hopena ʻaoʻao o kēia mau lāʻau lapaʻau a hoʻomanawanui i ke kaumaha e hele mai me ka hōʻailona.

ʻO ka mea hope loa, ʻo ka mea nui loa (Leka Lawe-Home)

ʻO ka maʻi ʻo Erdheim-Chester (ECD) kahi maʻi e hoʻopilikia ai i kēlā me kēia kanaka ma ke ʻano ʻokoʻa, i hoʻokumu ʻia e ka nui o nā histiocytes, ka mea e hōʻino ai i nā ʻiʻo. ʻOkoʻa nā hōʻailona a me nā ʻōuli o kēia maʻi mai kēlā kanaka a kēia kanaka. Hiki i kēia ke hoʻopilikia i kou ʻike holoʻokoʻa, me nā lāʻau lapaʻau i loaʻa.

Akā, ʻo ka mea pōmaikaʻi, me nā holomua hou, ua hiki i nā kānaka ʻepekema ke loaʻa nā lāʻau lapaʻau e hoʻomaikaʻi ai i ka prognosis o ECD.E kamaʻilio ākea me kāu kauka e pili ana i nā koho lapaʻau kūpono iā ʻoe a me nā hopena āu e manaʻo ai, ma muli o nā ʻano kikoʻī o kou kūlana. E hoʻomanaʻo, ʻoiai i loko o kēia kūlana kakaikahi, hiki iā ʻoe ke neʻe i mua me ka ikaika me ka ʻōlelo aʻoaʻo lapaʻau kūpono a me ke kākoʻo.

ʻO ka maʻi ʻo Erdheim-Chester, ECD, histiocytosis, nā maʻi laha ʻole, nā hoʻololi hoʻoilina, BRAF, nā hōʻailona, ​​​​​​ka lāʻau lapaʻau