ʻO ka Hypercholesterolemia Familial - ʻO ka mea e pono ai ʻoe e ʻike e pili ana i ia mea

Aia kekahi poʻe o kou ʻohana i loaʻa i nā hōʻeha puʻuwai ma mua o ko lākou ʻelemakule ʻana, ʻo ia hoʻi, i ka makahiki 40-50? A i ʻole he mea maʻamau no ka poʻe o kou ʻohana ke ʻōlelo mau, "Kolesterol kiʻekiʻe, kolesterol kiʻekiʻe"? I ka hapa nui o ka manawa, manaʻo mākou ʻo ke kumu o kēia nā mea e like me kā mākou meaʻai a inu ai, a me ka hoʻoikaika kino ʻole. He ʻoiaʻiʻo kēlā, a he hopena nō hoʻi kēlā. Akā i kekahi manawa, ʻo ke kumu maoli ma hope o kēia cholesterol kiʻekiʻe he pilikia paha i loko o ko mākou kino, i loko o kā mākou mau genes. ʻO ia ka mea a mākou e kapa nei ʻo 'Familial Hypercholesterolemia' a i ʻole 'FH' i ka lāʻau lapaʻau. I kēia lā, e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

I ka ʻōlelo maʻalahi, he aha ka Familial Hypercholesterolemia (FH)?

ʻO ka Familial Hypercholesterolemia kahi maʻi genetic i hoʻoilina ʻia mai ka makuahine, ka makuakāne, a i ʻole nā ​​mea ʻelua. ʻO kēia ka manawa e kiʻekiʻe loa ai ka cholesterol "maikaʻi ʻole", a i ʻole ka cholesterol LDL, i loko o ko kākou kino mai ka wā hānau.

E noʻonoʻo i ko kākou mau kīʻaha koko e like me nā aʻa koko. ʻO kēia kolesterol `LDL` ua like ia me kahi papa melemele, waxy e pipili ana i nā paia o kēlā mau aʻa koko. ʻO ka maʻamau, kūkulu iki kēia mau mea. Akā i loko o ke kanaka me `FH`, kiʻekiʻe loa ka pae kolesterol `LDL` a hoʻomaka kēia papa waxy e kūkulu koke a mānoanoa loa i loko o nā kīʻaha koko. Kāhea mākou i kēia `atherosclerosis`. I ka hala ʻana o ka manawa, ulu kēia papa a hoʻohaiki i nā kīʻaha koko, i kekahi manawa e ālai loa iā lākou. ʻO ia ka manawa e hana ʻia ai nā mea hoʻoweliweli ola e like me nā hōʻeha puʻuwai a me nā hahau.

Pono ka pae kolesterol `LDL` o ke kanaka olakino maʻamau e emi ma mua o 100 mg/dL. Eia nō naʻe, i loko o ke kanaka me `FH`, hiki ke kiʻekiʻe loa kēia waiwai, e like me 160 mg/dL, 190 mg/dL . I kekahi mau hihia koʻikoʻi, hiki ke ʻoi aku ma mua o 400 mg/dL. ʻO ka mea weliweli loa, ʻoiai ua loaʻa kēia ʻano mai ka wā kamaliʻi mai, inā ʻaʻole mālama ʻia, kiʻekiʻe loa ka pilikia o ka loaʻa ʻana o ka maʻi puʻuwai i ka wā ʻōpio ma mua o ke kanaka maʻamau.

He mea weliweli iki paha kēia moʻolelo, akā ʻo ka nūhou maikaʻi, inā ʻike ʻoe i ka wā mua, lawe i ka lāʻau lapaʻau kūpono, a hoʻololi i ke ʻano o ka nohona, hiki iā ʻoe ke kāohi loa iā ia a ola i kahi ola olakino.

ʻElua ʻano nui o FH.

Ua māhele ʻia kēia kūlana i ʻelua ʻano nui ma muli o ke ʻano o ko kākou hoʻoilina ʻana. He mea maʻalahi loa kēia e hoʻomaopopo.

E noʻonoʻo he ʻelua 'kuhikuhi' ko ko kākou kino no ka kaohi ʻana i ka cholesterol. ʻO kekahi e loaʻa iā kākou mai ko kākou makuahine mai, a ʻo kekahi mai ko kākou makuakāne mai.

1. Heterozygous FH: ʻO kēia ke ʻano maʻamau. ʻO ka mea e hana ʻia ma ʻaneʻi, aia kahi kīnā i loko o ka 'puke kuhikuhi' (gene) i hoʻoilina ʻia mai hoʻokahi makua wale nō , ʻo ka makuahine a i ʻole ka makuakāne. ʻO ke ʻano kēia, maikaʻi kekahi puke, a he hewa iki ka puke ʻē aʻe. ʻO kēia ke kumu o ka kaohi ʻana i ka cholesterol e lilo i mea kūpono ʻole.

2. Homozygous FH: He mea kākaʻikahi loa kēia, a he koʻikoʻi loa hoʻi.ʻAno. ʻO ka mea e hana ʻia ma ʻaneʻi, ʻo ia ka hemahema o nā 'kuhikuhi' i loaʻa mai ka makuahine a me ka makuakāne. A laila lilo ke ʻano hana e kaohi ai i ka cholesterol i mea nāwaliwali loa. Kiʻekiʻe loa nā pae cholesterol 'LDL' o kēia poʻe.

He maʻi hoʻoilina ʻo 'FH' ma ka māhele 'autosomal dominant'. ʻO ke ʻano o kēia, ʻaʻole pono ke keiki e hoʻoilina i ka gene kīnā mai nā mākua ʻelua e hoʻoilina i ka maʻi, ua lawa ka hoʻoilina ʻana mai hoʻokahi makua wale nō .

Pehea ka maʻamau o kēia ʻano? He aha nā hōʻailona?

Ua manaʻo ʻia he hoʻokahi i loko o 250 mau kānaka o ka honua i loaʻa i ke kūlana maʻamau ʻo `Heterozygous FH`. Akā, ʻo ka mea kaumaha loa, ʻo 9 o 10 o kēia poʻe ʻaʻole lākou i ʻike ua loaʻa iā lākou ka maʻi .

I ka manawa pinepine, ʻaʻole hōʻike ʻo FH i kekahi mau hōʻailona kikoʻī i nā pae mua. ʻAʻole paha ʻoe e ʻike he FH kou a hiki i ka loaʻa ʻana o ka hōʻeha puʻuwai, e like me ka ʻeha o ka umauma. Akā a laila ua lohi paha. ʻO kēia no ka mea e hoʻomaka ana nā waihona cholesterol i loko o nā kīʻaha koko o ke kanaka me FH mai ka lā i hānau ʻia ai lākou.

I ka hala ʻana o ka manawa, hiki i ka hōʻiliʻili ʻana o ka cholesterol ke alakaʻi i nā hōʻailona aʻe.

Pehea e ʻike ʻia ai ka FH?

Inā manaʻo kāu kauka he FH kou, e nānā lākou i kekahi mau mea e hōʻoia i ka hōʻailona.

• Hoʻāʻo koko: ʻO kēia ka mea nui loa. ʻO kahi hoʻāʻo koko i kapa ʻia ʻo 'Lipid Profile', kahi e nānā ai i kāu mau pae cholesterol, e nānā i nā pae kiʻekiʻe loa o ka cholesterol 'LDL'. Inā ʻoi aku ia ma mua o 190 mg/dL i kahi pākeke, a ʻoi aku paha ma mua o 160 mg/dL i kahi keiki, ua manaʻo ʻia ʻo 'FH'.
• Moʻolelo lapaʻau ʻohana: He mea nui loa kēia. E nīnau maoli kāu kauka iā ʻoe i nā nīnau e like me, "Ua loaʻa anei i kou makuakāne, makuahine, kūpuna, a i ʻole nā ​​kaikaina nā hōʻeha puʻuwai i ka wā ʻōpiopio?" "Aia kekahi o kou ʻohana me ka cholesterol kiʻekiʻe?"
• Hoʻokolokolo kino: E nānā ke kauka i kou kino no kekahi mau hōʻailona o xanthomas (nā ʻōpū ʻili) a i ʻole corneal arcus (apo maka).
• Hoʻāʻo ʻana i ka genetics (hoʻāʻo DNA): I kekahi mau hihia, hiki ke hana ʻia ka hoʻāʻo genetic e hōʻoia pono i ka maʻi. Hiki i kēia ke nānā i nā hemahema i nā genes nui e hoʻoulu ai i ka FH (e like me APOB, LDLR, a i ʻole PCSK9).

He aha nā lāʻau lapaʻau?

ʻAʻole ʻo 'FH' kahi maʻi hiki iā mākou ke ho'ōla. No ka mea, he mea ia e hele mai me ko mākou mau genes. Akā hiki ke hoʻomalu maikaʻi ʻia . ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka hoʻemi ʻana i nā pae cholesterol 'LDL' i ka hiki, e hoʻemi ana i ka pilikia o ka maʻi puʻuwai.

1. Nā lāʻau lapaʻau (nā ʻano lāʻau lapaʻau)

ʻAʻole lawa nā hoʻololi ʻana i ke ʻano o ka nohona e kāohi i ka cholesterol no kekahi me ka 'FH'. No laila , pono e lawe ʻia hoʻokahi a ʻoi aku paha nā lāʻau lapaʻau no ke koena o ko lākou ola .

• Nā Statins:ʻO kēia nā lāʻau lapaʻau maʻamau a me ka laina mua. Hana lākou ma ka hōʻemi ʻana i ka hana ʻana o ka cholesterol e ke akepaʻa.
• Nā mea hoʻopaʻa PCSK9: He papa hou kēia o nā lāʻau lapaʻau injectable. He kūpono loa lākou no ka poʻe ʻaʻole hiki ke hoʻomalu ʻia ko lākou pae cholesterol me nā statins wale nō.
• ʻEzetimibe: Hana kēia lāʻau lapaʻau ma ka hōʻemi ʻana i ka omo ʻana o ka cholesterol mai nā meaʻai a mākou e ʻai ai. Hāʻawi pinepine ʻia ia me ka hui pū ʻana me nā statins.
• Nā lāʻau lapaʻau ʻē aʻe: Eia kekahi, aia nā lāʻau lapaʻau ʻē aʻe e like me 'Bile acid sequestrants' a me 'Fibrates'. Na kāu kauka e hoʻoholo i ka lāʻau lapaʻau kūpono loa iā ʻoe.

2. Nā loli o ke ʻano o ka nohona

Me ka lawe ʻana i ka lāʻau lapaʻau, he mea nui hoʻi e hahai i kahi nohona olakino. ʻAʻole wale kēia e hoʻonui i ka pono o ka lāʻau lapaʻau, akā hiki nō hoʻi ke hōʻemi hou aku i ka pilikia o ka maʻi puʻuwai.

3. Nā lāʻau lapaʻau kūikawā ʻē aʻe

No nā kānaka me ka FH homozygous koʻikoʻi loa, ʻaʻole hiki i ka lāʻau lapaʻau wale nō ke kāohi i kā lākou cholesterol. No kēia poʻe, hana ʻia kahi lāʻau i kapa ʻia ʻo LDL apheresis. Ua like kēia me ka dialysis. Lawe ʻia kahi koko liʻiliʻi, hoʻouna ʻia ma kahi mīkini, kahi e wehe ai i ka cholesterol LDL maikaʻi ʻole, a laila hoʻokomo hou iā ia i loko o ke kino. Hana ʻia kēia i hoʻokahi a ʻelua paha i ka pule.

Inā loaʻa iā ʻoe ʻo FH, he aha kāu e hana ai?

Inā ua ʻike ʻia ʻoe me ka `FH`, ʻaʻole ia e pili ana iā ʻoe wale nō. He leka koʻikoʻi ia no kou ʻohana holoʻokoʻa.

Inā he moʻolelo ʻohana ko ke keiki no ka `FH`, hiki ke hoʻāʻo ʻia ka cholesterol mai ka makahiki 2. No ka mea, ʻo ka wikiwiki o ka hoʻomaka ʻana o ka mālama ʻana no kēia maʻi, ʻoi aku ka nui o nā pilikia e hiki ke hoʻēmi ʻia i ka wā e hiki mai ana.

Inā loaʻa iā ʻoe ka `FH`, mai hopohopo. E hoʻomau i ka launa pū me kāu kauka. E lawe i kāu lāʻau i ka manawa kūpono. E hoʻololi i ke ʻano o ka nohona. A laila hiki iā ʻoe ke ola i kahi ola lōʻihi a olakino e like me nā mea ʻē aʻe.