Ehlers-Danlos maʻi

ʻO Ehlers-Danlos Syndrome (EDS) kahi hui o nā maʻi hoʻoilina i kahakaha ʻia e nā hono maha loa, ʻili paʻa loa (hyperelastic) e palupalu maʻalahi, a maʻalahi hoʻi i nā kīʻaha koko.

Aia he ʻeono mau ʻano nui a ma ka liʻiliʻi ʻelima mau ʻano liʻiliʻi o EDS.

Hoʻohui ʻia nā ʻano loli ʻokoʻa (hoʻololi) i nā pilikia me ka collagen. ʻO kēia nā mea e hāʻawi i ka ikaika a me ke ʻano i:

• ʻIli
• Iwi
• Nā kīʻaha koko
• Nā mea kūloko

Ke alakaʻi nei ka collagen abnormal i nā ʻōuli e pili ana me EDS. I kekahi ʻano o ka maʻi maʻi, hiki i ka haki o nā ʻōpū a i ʻole nā ​​kiwikā o ka puʻuwai ʻole ke kū.

ʻO ka mōʻaukala ʻohana kahi pilikia i kekahi mau hihia.

ʻO nā ʻōuli o EDS me:

• ʻEha kua
• Hoʻohui pālua
• Hoʻopōʻino maʻalahi, palu a ʻeha hoʻi ka ʻili
• ʻO ka scarring maʻalahi a me ka hōʻeha hōʻeha maikaʻi ʻole
• Nā wāwae pālahalaha
• Hoʻonui i ka neʻe ʻana o nā ami, nā popping ami, nā wanaʻao mua
• Hoʻokaʻawale hui
• ʻEha hui
• ʻO ka haki mua o nā membrane i ka wā hāpai
• ʻO kaʻili palupalu a wili hoʻi
• Nā pilikia ʻike

Hōʻike ka loiloi e kahi kahu mālama ola:

• Deformed ʻili o ka maka (kornea)
• ʻO ka looseness ami hui pū a me ka hypermobility hui
• ʻO ka mitral valve i ka puʻuwai ʻaʻole e pili paʻa (mitral valve prolaps)
• Gum maʻiʻaʻai (periodontitis)
• ʻO ka haki ʻana o nā ʻōpū, kōpū, a i ʻole ka ʻōnohi maka (ʻike wale ʻia i ka vaskular EDS, he kakaikahi ia)
• ʻIli palupalu, lahilahi, a ʻōwili loa paha

ʻO nā hoʻokolohua e kuhikuhi iā EDS:

• ʻO ka kikokiko ʻana o Collagen (hana ʻia ma kahi laʻana biopsy ʻili)
• ʻO ka hoʻāʻo ʻana o ka moʻo gen collagen
• Echocardiogram (ultrasound puʻuwai)
• Lysyl hydroxylase a i ʻole ka hana oxidase (e nānā i ka hoʻokumu collagen)

ʻAʻohe lāʻau lapaʻau kikoʻī no EDS. Loiloi ʻia nā pilikia a me nā hōʻailona ponoʻī a mālama pono ʻia. ʻO ka hoʻōla kino a loiloi paha e kahi kauka e loea ana i ka lāʻau hoʻōla e pono pinepine ai.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku ma EDS:

• National Organization of Rare Disorder - rarediseases.org/rare-diseases/ehlers-danlos-syndrome
• Ka Waihona Waihona Lapaʻau o US, Genetics Home Reference - ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

ʻO ka poʻe me EDS he ola maʻamau ko lākou. Maʻamau ka ʻike naʻau.

ʻO ka poʻe me ka vascular vormity rare o EDS ka mea i ʻoi aku ka makaʻu no ka haki ʻana o kahi mea nui a i ʻole ke kīʻaha koko. Nui ka pilikia o kēia poʻe no ka make koke.

ʻO nā pilikia kūpono o EDS me:

• ʻEha puʻupuʻu paʻa
• ʻO ka maʻi ahulau mua
• ʻO ka holo ʻole o nā ʻoki ʻoki e pani (a i ʻole nā ​​haehae e haehae)
• ʻO ka haki mua o nā membrane i ka wā hāpai
• ʻO ka haki ʻana o nā moku nui, me kahi aneurysm aortic ruptured (aia wale nō i ka vaskular EDS)
• Wāwahi o kahi hollow organ e like me ka uterus a i ʻole kō (ʻo ia wale nō i ka vascular EDS)
• Wāwahi o ke kinipōpō maka

Kāhea i kahi manawa me kāu mea hāʻawi inā loaʻa iā ʻoe kahi moʻolelo ʻohana o EDS a hopohopo ʻoe i kāu pilikia a ke hoʻolālā nei paha e hoʻomaka i kahi ʻohana.

Kāhea i kahi manawa me kāu mea hāʻawi inā ʻo ʻoe a ʻo kāu keiki paha ka ʻōuli o EDS.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no nā mākua me ka moʻolelo ʻohana o EDS. ʻO ka poʻe e hoʻolālā ana e hoʻomaka i kahi ʻohana e makaʻala i ke ʻano o ka EDS i loaʻa iā lākou a me ke ʻano o ka hoʻoili ʻana i nā keiki. Hiki ke hoʻoholo ʻia i kēia ma o ka hoʻāʻo ʻana a me nā loiloi i ʻōlelo ʻia e kāu mea hāʻawi a mea aʻoaʻo aʻoaʻo paha.

ʻO ke kuhikuhi ʻana i nā pilikia olakino koʻikoʻi e kōkua i ka pale ʻana i nā pilikia koʻikoʻi ma ka makaʻala ʻana a me nā loli nohona

Krakow D. Nā maʻi ponoʻī o nā mea hoʻopili. I: Firestein GS, Budd RC, Gabriel SE, McInnes IB, O'Dell JR, nā hua. ʻO kā Kelly a me Firestein puke aʻo o Rheumatology. 10 o ka lā. Piladelapia, PA: Elsevier; 2017: chap 105.

ʻO Pyeritz RE. Nā maʻi i hoʻoilina ʻia no nā mea pili. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 25th hua. Piladelapia, PA: Elsevier Saunders; 2016: chap 260.