Ehlers-Danlos Syndrome: He aha ia a pehea e mālama ʻia ai?

Anter

• He aha ke kumu o EDS?
• He aha nā hōʻailona o EDS?
• Nā ʻōuli o ka maʻamau EDS
• Nā ʻōuli o hypermobile EDS (hEDS)
• Nā ʻōuli o ka vascular EDS
• Pehea e ʻike ai ʻo EDS?
• Pehea e mālama ʻia ai ʻo EDS?
• Nā pilikia kūpono o EDS
• Outlook

He aha ka Ehlers-Danlos syndrome?

ʻO Ehlers-Danlos syndrome (EDS) kahi kūlana hoʻoilina e pili ana i nā pūnaewele hoʻopili i ke kino. ʻO ke kinona pili ke kuleana no ke kākoʻo a me ke kūkulu ʻana i ka ʻili, nā kīʻaha koko, nā iwi, a me nā ʻokena. Hana ʻia ia i nā pūnaewele, nā mea fibrous, a me kahi protein i kapa ʻia ʻo collagen. ʻO kahi hui o nā maʻi genetical ke kumu o ka maʻi Ehlers-Danlos, kahi hopena i kahi kīnā i ka hana collagen.

I kēia mau lā, 13 ʻano nui o ka maʻi Ehlers-Danlos i subtyped. Pākuʻi ʻia kēia mau mea:

• kilakila
• like-ʻano
• cardiac-valvular
• vaskular
• hypermobile
• arthrochalasia
• dermatosparaxis
• kyphoscoliotic
• kolo palaoa
• spondylodysplastic
• musculocontractural
• myopathic
• wā lōʻihi

Hoʻopili kēlā me kēia ʻano EDS i nā wahi like ʻole o ke kino. Eia nō naʻe, he hoʻokahi mea like nā ʻano EDS āpau: hypermobility. ʻO Hypermobility kahi ʻano nui o ka neʻe ʻana i nā hono.

Wahi a ka National Library of Medicine's Genetics Home Reference, pili ka EDS iā 1 ma 5,000 mau kānaka ma ka honua holoʻokoʻa. ʻO ka hypermobility a me nā ʻano maʻamau o Ehlers-Danlos syndrome ka mea maʻamau. Kākaʻikahi nā ʻano ʻē aʻe. ʻO kahi laʻana, pili wale ka dermatosparaxis ma kahi o 12 mau keiki ma ka honua holoʻokoʻa.

He aha ke kumu o EDS?

I ka hapanui o nā hihia he ʻano hoʻoilina ʻo EDS. ʻAʻole hoʻoilina ka hapa nui o nā hihia. ʻO kēia ke kumu o ia mau mea ma o ka hoʻololi ʻana o nā ʻāpana kolohe. Nā nā kīnā i nā gen e hoʻonāwaliwali i ke kaʻina a me ka hoʻokumu ʻana o collagen.

Hāʻawi nā gen a pau i helu ʻia ma lalo i nā ʻōkuhi pehea e hoʻākoakoa ai collagen, koe wale no ADAMTS2. Hāʻawi kēlā ʻāpana i nā ʻōkuhi no ka hana ʻana i nā protein i hana pū me collagen. ʻO nā gen i hiki ke kumu iā EDS, ʻoiai ʻaʻole he papa inoa piha, e hoʻopili pū me:

• ADAMTS2
• COL1A1
• COL1A2
• COL3A1
• COL5A1
• COL6A2
• PLOD1
• TNXB

He aha nā hōʻailona o EDS?

Hāmau nā mākua i kekahi manawa i nā halihali huna ʻole o nā ʻāpana kīnā e kumu iā EDS. ʻO kēia ʻaʻole paha i loaʻa i nā mākua nā ʻōuli o ke ʻano. A ʻike ʻole lākou he poʻe lawe lākou i kahi ʻāpana hemahema. I nā manawa ʻē aʻe, nui ke kumu o ke aʻa a hiki ke kumu i nā ʻōuli.

Nā ʻōuli o ka maʻamau EDS

• ami ami
• ʻili lahilahi, ʻili velvety
• ʻili palupalu
• ʻili e palapū maʻalahi
• pelu ʻili huluhulu ma nā maka
• ʻeha ʻeha
• luhi musele
• ulu maikaʻi ma nā wahi kaomi, e like me nā kuʻe lima a me nā kuli
• nā pilikia puʻuwai puʻuwai

Nā ʻōuli o hypermobile EDS (hEDS)

• ami ami
• paopao maʻalahi
• ʻeha ʻeha
• luhi musele
• maʻi maʻi degenerative ami
• osteoarthritis premature
• ʻeha mau
• nā pilikia puʻuwai puʻuwai

Nā ʻōuli o ka vascular EDS

• ipu koko palupalu
• ʻili lahilahi
• ʻili aniani
• ihu lahilahi
• maka hoʻopāpā
• lehelehe lahilahi
• papalina ua piholo
• ʻūlū liʻiliʻi
• hāneʻe hāneʻe
• nā pilikia puʻuwai puʻuwai

Pehea e ʻike ai ʻo EDS?

Hiki paha i nā kauka ke hoʻohana i kahi o nā hoʻokolohua e kuhikuhi iā EDS (koe wale no ka HEDS), a i ʻole e kāpae i nā kūlana like ʻē aʻe. ʻO kēia mau hoʻāʻo e pili ana i nā hoʻāʻo genetika, ka biopsy o ka ʻili, a me ka echocardiogram. Hoʻohana kahi echocardiogram i nā nalu kani e hana i nā kiʻi neʻe o ka puʻuwai. E hōʻike kēia i ke kauka inā aia kekahi ʻano ʻē aʻe i kēia manawa.

Lawe ʻia kahi laʻana koko mai kou lima a hoʻāʻo no ka hoʻololi ʻana i kekahi mau ʻāpana. Hoʻohana ʻia kahi biopsy o ka ʻili e nānā ai i nā hōʻailona o nā pono ʻole i ka hana collagen. Pili kēia i ka hemo ʻana i kahi laʻana o ka ʻili a nānā iā ia ma lalo o kahi microscope.

Hiki i kahi hōʻoia DNA ke hōʻoia inā aia kahi hewa kīnā i loko o kahi embryo. Hana ʻia kēia ʻano hoʻāʻo ke hoʻoulu ʻia nā hua a ka wahine ma waho o kona kino (in vitro fertilization).

Pehea e mālama ʻia ai ʻo EDS?

ʻO nā koho lapaʻau o kēia manawa no EDS:

• hoʻoikaika kino (hoʻohana ʻia e hoʻoponopono hou i nā mea me ka paʻa ʻole o ka ami a me ka muscle)
• ʻoki kino e hoʻoponopono i nā hui pōʻino
• nā lāʻau e hōʻemi i ka ʻeha

Hiki ke loaʻa nā koho lapaʻau hou aʻe ma muli o ka nui o ka ʻeha āu e ʻike nei a i ʻole nā ​​hōʻailona hou aʻe.

Hiki iā ʻoe ke hana i kēia mau kaʻina e pale ai i nā hōʻeha a pale i kou mau hui.

• Hōʻalo i nā haʻuki pili.
• Hōʻalo i ka hāpai ʻana i nā kaupaona.
• E hoʻohana i ka pale lā e pale ai i ka ʻili.
• Hōʻalo i nā kopa kolohe e hoʻoliʻiliʻi loa i ka ʻili a i ʻole ke kumu o nā hopena maʻi.
• E hoʻohana i nā hāmeʻa kōkua e hōʻemi i ke kaomi o kou ami.

Eia kekahi, inā he EDS kāu keiki, e hāhai i kēia mau kaʻina e pale ai i nā hōʻeha a pale i ko lākou mau ami. Hoʻohui, kau i nā pale kūpono i kāu keiki ma mua o ka holo kaʻa heʻe paha a i ʻole ke aʻo ʻana e hele wāwae.

Nā pilikia kūpono o EDS

Pākuʻi ʻia paha nā pilikia o EDS:

• ʻeha hui pū
• dislocation hui pū
• ka maʻi wili mua
• hoʻōla lohi o nā ʻeha, hiki i ka scarring koʻikoʻi
• ʻeha ʻoki lāʻau paʻakikī i ka hoʻōla

Outlook

Inā manaʻo ʻoe he EDS kāu e pili ana i nā ʻōuli āu e ʻike nei, lawe ʻia mai e kipa i kāu kauka. E hiki iā lākou ke kuhi iā ʻoe me kekahi mau hoʻokolohua a i ʻole e hoʻokau ʻana i nā ʻano ʻano like ʻole.

Inā kuhi ʻia ʻoe me kēia ʻano, e hana pū kāu kauka me ʻoe e hoʻomohala i kahi papa lāʻau lapaʻau. I ka mea hou aku, nui a hewahewa nā ala e hiki ai iā ʻoe ke hana i mea e pale aku ai i ka ʻeha.