He aha ka Familial Hypercholesterolemia? Nā Hōʻailona, Nā Kumu, a me ka Lapaʻau

ʻO ka familial hypercholesterolemia kahi kūlana genetic e hoʻopuka ai i ka nui loa o ka cholesterol i loko o kou kino mai ka hānau ʻana mai. ʻAʻole like me nā pilikia cholesterol e ulu mai ana mai ka ʻai a i ʻole ke ʻano ola, holo kēia kūlana i loko o nā ʻohana a hoʻopilikia i ke ʻano o ka hana ʻana o kou ate i ka cholesterol.

Ma kahi o 1 i 250 mau kānaka i loaʻa kēia kūlana, ʻoiai ʻaʻole ʻike ka nui o lākou. Hiki i kou mau pae cholesterol ke 2 a 4 mau manawa kiʻekiʻe ma mua o ka maʻamau, kahi e hoʻokau ai iā ʻoe i ka pilikia no ka maʻi naʻau i kahi makahiki ʻōpio ma mua o ka nui o nā kānaka.

He aha ka Familial Hypercholesterolemia?

Hana ʻia ka familial hypercholesterolemia ke hoʻoilina ʻoe i nā gene hewa e kaohi ana i ka metabolism cholesterol. ʻAʻole hiki i kou ate ke wehe i ka cholesterol LDL (ka cholesterol "maikaʻi ʻole") mai kou koko me ka maikaʻi.

E noʻonoʻo iā ia e like me kahi pilikia kaʻa ma kou kahe koko. Loaʻa i nā ate maʻamau nā "puka" lawa e hoʻomaʻemaʻe i ka cholesterol, akā me kēia kūlana, ua pani ʻia ka nui o kēlā mau puka. Hoʻopuka kēia i ka cholesterol e kūkulu i loko o kou koko a ma hope iho i loko o kou mau arteries.

Aia ʻelua mau ʻano nui. ʻO ka heterozygous familial hypercholesterolemia ʻo ia hoʻi ua hoʻoilina ʻoe i hoʻokahi gene hewa mai hoʻokahi mākua. ʻO ka homozygous familial hypercholesterolemia ʻo ia hoʻi ua hoʻoilina ʻoe i nā gene hewa mai kou mau mākua ʻelua, e hoʻolilo ana iā ia i mea ʻoi aku ka nui akā ʻoi aku ka liʻiliʻi.

He aha nā Hōʻailona o ka Familial Hypercholesterolemia?

ʻAʻole manaʻo nā kānaka nui me ka familial hypercholesterolemia i ka maʻi a i ʻole ʻike i nā hōʻailona maopopo. Hana mālie ka cholesterol kiʻekiʻe ma ke kua, ʻo ia ke kumu i kapa pinepine ʻia ai he kūlana "mālie".

Eia naʻe, hiki ke ʻike ʻia kekahi mau hōʻailona kino e hāʻawi paha iā ʻoe i nā ʻōlelo aʻo:

• Nā puʻupuʻu melemele a i ʻole nā ​​​​papa ma kahi o kou mau maka (i kapa ʻia ʻo xanthelasma)
• Nā puʻupuʻu melemele ma kou mau knuckles, elbows, a i ʻole nā ​​​​ kuli (tendon xanthomas)
• Kahi apo hina-keʻokeʻo a puni ka ʻāpana kala o kou maka (corneal arcus)
• ʻEha umauma a i ʻole ka pōkole o ka hanu i ka wā o ka hana kino
• Nā hōʻailona hoʻouka naʻau a i ʻole ka hahau mua i loko o nā lālā o ka ʻohana

ʻOi aku ka maʻamau o kēia mau hōʻailona maopopo i nā kānaka me nā ʻano koʻikoʻi o ke kūlana. ʻIke wale ka nui o nā kānaka i loaʻa iā lākou ka familial hypercholesterolemia i ka wā o nā hoʻokolohua koko maʻamau a i ʻole ma hope o ka ʻike ʻia ʻana o kahi lālā o ka ʻohana.

He aha nā ʻAno o ka Familial Hypercholesterolemia?

Aia ʻelua mau ʻano nui ma muli o ka nui o nā gene hewa āu i hoʻoilina ai. Hoʻopilikia ke ʻano āu i loaʻa ai i ka nui o kou mau pae cholesterol a i ka wā e hoʻomaka ai nā pilikia.

ʻO ka heterozygous familial hypercholesterolemia ka ʻano maʻamau. Hoʻoilina ʻoe i hoʻokahi gene maʻamau a me hoʻokahi gene hewa, no laila hana mau kāu ate. ʻO kāu cholesterol holoʻokoʻa ma waena pinepine o 300-500 mg/dL, a hoʻomaka pinepine nā pilikia naʻau i kou mau makahiki 40 a 50.

ʻOi aku ka liʻiliʻi o ka homozygous familial hypercholesterolemia akā ʻoi aku ka koʻikoʻi. Hoʻoilina ʻoe i nā gene hewa mai kou mau mākua ʻelua, no laila kaua nui kāu ate me ka wehe ʻana i ka cholesterol. Hiki i kāu cholesterol ke hiki i 600-1000 mg/dL a ʻoi aku paha, a hiki ke hoʻomaka nā pilikia naʻau i ka wā kamaliʻi a i ʻole nā ​​​​makahiki ʻōpio.

He aha ka mea e hoʻopuka ai i ka Familial Hypercholesterolemia?

Hoʻopuka ʻia ka familial hypercholesterolemia e nā mutations i nā gene e kōkua ana i kou ate e wehe i ka cholesterol mai kou koko. ʻO ka gene maʻamau loa i komo ʻia ʻo LDLR, kahi e hana ai i nā mea loaʻa e hopu i ka cholesterol mai kou kahe koko.

Ke hana pono ʻole kēia mau gene, ʻaʻole hiki i kou ate ke hoʻomaʻemaʻe i ka cholesterol me ka maikaʻi. E like ia me ka loaʻa ʻana o nā puka liʻiliʻi no ka cholesterol e haʻalele ai i kou kahe koko, no laila kūkulu ʻia ia i ka manawa.

He genetic maoli kēia a ʻaʻohe pilina me kāu ʻai, nā hana hoʻoikaika kino, a i ʻole nā ​​​​koho ʻano ola. Hānau ʻia ʻoe me kēia kūlana no ka mea ua hoʻoilina ʻoe mai hoʻokahi a i ʻole ʻelua mau mākua. Inā loaʻa i hoʻokahi mākua, loaʻa i kēlā me kēia keiki ka 50% manawa o ka hoʻoilina ʻana pū kekahi.

I ka wā e ʻike ai i ke Kauka no ka Familial Hypercholesterolemia?

Pono ʻoe e ʻike i ke kauka inā loaʻa iā ʻoe kahi mōʻaukala ʻohana o ka cholesterol kiʻekiʻe, nā hoʻouka naʻau mua, a i ʻole nā ​​​​hahau. He mea nui loa ka hoʻokolohua inā ua ʻike ʻia kahi mākua, kaikuaʻana, a i ʻole keiki me ka familial hypercholesterolemia.

E hoʻonohonoho i kahi manawa inā ʻike ʻoe i nā puʻupuʻu melemele a puni kou mau maka a i ʻole ma kou mau hui. Hōʻike pinepine kēia mau hōʻailona kino i nā pae cholesterol kiʻekiʻe loa e pono ai ka mālama lapaʻau.

Mai kali inā ʻike ʻoe i ka ʻeha umauma, ka pōkole o ka hanu, a i ʻole nā ​​​​hōʻailona pili naʻau ʻē aʻe. ʻOiai inā ʻoluʻolu ʻoe, hiki i ka nānā cholesterol maʻamau e hoʻomaka ana i kou mau makahiki 20 ke hopu i kēia kūlana i ka wā mua i ka wā e maikaʻi loa ai ka lapaʻau.

He aha nā mea pilikia no ka Familial Hypercholesterolemia?

ʻO ka mea pilikia nui ʻo ia ka familial hypercholesterolemia e hoʻonui nui ana i kou pilikia no ka maʻi naʻau a me ka hahau i kahi makahiki ʻōpio. Me ka ʻole o ka lapaʻau, hoʻomohala pinepine nā kānaka me kēia kūlana i nā pilikia cardiovascular mau makahiki ma mua o ka heluna kanaka.

ʻO nā pilikia maʻamau e komo pū ana:

• Maʻi artery coronary (nā arteries i pani ʻia i kou naʻau)
• Nā hoʻouka naʻau, pinepine i nā makahiki 40 a 50
• Hahau mai nā arteries i pani ʻia i kou lolo
• Maʻi artery peripheral (nā arteries i pani ʻia i kou mau wāwae)
• Maʻi valve aortic mai ka kūkulu ʻana o ka cholesterol

ʻO ka lono maikaʻi, ʻo ka ʻike mua ʻana a me ka lapaʻau e hōʻemi nui i kēia mau pilikia. Me ka mālama kūpono, noho ola nā kānaka he nui me ka familial hypercholesterolemia i nā ola maʻamau, olakino me ka ʻole o ka ʻike ʻana i kēia mau pilikia koʻikoʻi.

Pehea e pale aku ai i ka Familial Hypercholesterolemia?

ʻOiai he genetic ka familial hypercholesterolemia, ʻaʻole hiki iā ʻoe ke pale aku i ka loaʻa ʻana o ke kūlana ponoʻī. Eia naʻe, hiki iā ʻoe ke lawe i nā hana e pale aku ai a i ʻole e hoʻopaneʻe i kāna mau pilikia ke ʻike ʻoe iā ia.

ʻO ka nānā mua ʻana kāu hana pale maikaʻi loa. Inā loaʻa iā ʻoe kahi mōʻaukala ʻohana, ʻae ka hoʻokolohua ʻana i kou mau makahiki 20 no ka lapaʻau mua ma mua o ka hōʻino ʻia ʻana o ka artery.

ʻOiai ʻaʻole hiki iā ʻoe ke hoʻololi i kou mau gene, hiki i nā koho ʻano ola olakino ke kōkua i ka hoʻokele ʻana i kou mau pae cholesterol. Kūkulu ka hoʻoikaika kino maʻamau, kahi ʻai olakino naʻau, ʻaʻole puhipaka, a me ka mālama ʻana i ke kaumaha olakino a pau i kāu lapaʻau a hoʻemi i nā pilikia cardiovascular.

Pehea ka ʻike ʻia ʻana o ka Familial Hypercholesterolemia?

Hoʻomaka ka ʻike ʻana me kahi hoʻokolohua koko maʻalahi i kapa ʻia ʻo ka lipid panel e ana i kou mau pae cholesterol. E ʻimi kāu kauka i ka cholesterol holoʻokoʻa ma luna o 300 mg/dL a i ʻole LDL cholesterol ma luna o 190 mg/dL, ʻoi aku inā ʻōpio a olakino ʻoe.

E nīnau pū kāu kauka i nā nīnau kikoʻī e pili ana i kāu mōʻaukala ʻohana. Makemake lākou e ʻike inā loaʻa i nā mākua, nā kaikuaʻana, a i ʻole nā ​​​​keiki i ka cholesterol kiʻekiʻe, nā hoʻouka naʻau mua, a i ʻole nā ​​​​hahau.

Hiki i ka hoʻokolohua genetic ke hōʻoia i ka ʻike ʻana ma ka ʻike ʻana i nā mutations gene kikoʻī. He mea kōkua loa kēia hoʻokolohua no ka nānā ʻohana a me ka hoʻoholo ʻana i ke ʻano āu i loaʻa ai. Loaʻa i kekahi poʻe nā hoʻokolohua kūikawā e nānā i ke ʻano o ka hana ʻana o kā lākou ate i ka cholesterol.

He aha ka Lapaʻau no ka Familial Hypercholesterolemia?

Kūkulu ka lapaʻau i ka hoʻohaʻahaʻa ʻana i kou mau pae cholesterol e hoʻemi i kou pilikia no ka maʻi naʻau a me ka hahau. ʻO ka pahuhopu ke kiʻi i kāu LDL cholesterol i ka haʻahaʻa loa, pinepine ma lalo o 70 mg/dL.

Pono ka nui o nā kānaka i nā lāʻau lapaʻau i kapa ʻia ʻo statins, kahi e kōkua ai i kou ate e hana me ka maikaʻi. ʻO nā statins maʻamau e komo pū ana ʻo atorvastatin, rosuvastatin, a me simvastatin. Hiki i kāu kauka ke hoʻomaka me hoʻokahi a hoʻoponopono i ka nui a hoʻohui i nā lāʻau ʻē aʻe e like me ka pono.

No nā hihia koʻikoʻi a i ʻole ke lawa ʻole o nā statins, komo nā lapaʻau hou aʻe:

• Nā mea hoʻoikaika PCSK9 (nā lāʻau lapaʻau injectable i hāʻawi ʻia i kēlā me kēia 2-4 mau pule)
• Ezetimibe (pale i ka hoʻomoʻi ʻana o ka cholesterol i loko o kou mau ʻōpū)
• Nā mea hoʻopaʻa wai ʻakika bile (kōkua i ka wehe ʻana i ka cholesterol mai kou kino)
• LDL apheresis (kahi kaʻina hana e kānana ai i ka cholesterol mai kou koko)

Pono paha nā kānaka me ka homozygous familial hypercholesterolemia i nā lapaʻau koʻikoʻi e like me ka apheresis maʻamau a i ʻole ka hoʻololi ate i nā hihia liʻiliʻi. ʻO ke kī ka hana pili loa me kāu kauka e ʻimi i ka hui e hana maikaʻi loa no ʻoe.

Pehea e lawe ai i ka lapaʻau home i ka wā o ka Familial Hypercholesterolemia?

ʻOiai he mea nui nā lāʻau lapaʻau, hiki i nā loli ʻano ola ke kākoʻo i kāu lapaʻau a kōkua iā ʻoe e manaʻo i kou maikaʻi loa. E noʻonoʻo i kēia mau mea e like me nā mea hana e hana pū ana me kāu mau lāʻau lapaʻau, ʻaʻole nā ​​​​mea pani no lākou.

E nānā i ka ʻai olakino naʻau me ka nui o nā hua, nā mea kanu, nā huaola holoʻokoʻa, a me nā protein liʻiliʻi. E kaupalena i nā momona saturated, nā momona trans, a me nā meaʻai momona cholesterol, ʻoiai e hoʻomanaʻo ʻaʻole i hoʻopuka ʻia kāu kūlana e ka ʻai.

Kōkua ka hana kino maʻamau i kou ʻōnaehana cardiovascular e noho ikaika. E pahuhopu no ka liʻiliʻi o 150 mau minuke o ka hoʻoikaika kino waena i kēlā me kēia pule, e like me ka hele wikiwiki, ka ʻauʻau, a i ʻole ka holo paikikala. E hoʻomaka mālie a kūkulu i ka liʻiliʻi inā he mea hou ʻoe i ka hoʻoikaika kino.

E lawe i kāu mau lāʻau lapaʻau e like me ka mea i kuhikuhi ʻia, ʻoiai inā ʻoluʻolu ʻoe. E hoʻonohonoho i kahi papa hana a hoʻohana i nā mea hoʻonohonoho papa e kōkua iā ʻoe e hoʻomanaʻo. Mai hoʻōki i ka lawe ʻana i nā lāʻau lapaʻau me ka ʻole o ka kamaʻilio ʻana me kāu kauka mua, ʻoiai hiki i kou mau pae cholesterol ke piʻi koke hou.

Pehea ʻoe e hoʻomākaukau ai no kāu manawa kauka?

E hōʻiliʻili i kāu mōʻaukala lapaʻau ʻohana ma mua o kāu manawa, e nānā ana i ka maʻi naʻau, ka cholesterol kiʻekiʻe, a me nā make mua. E kākau i nā lālā o ka ʻohana i loaʻa kēia mau pilikia a i nā makahiki hea lākou i loaʻa ai.

E lawe mai i kahi papa inoa o nā lāʻau lapaʻau, nā mea hoʻohui, a me nā wikamina āu e lawe nei i kēia manawa. E komo pū i nā nui a me ka pinepine o kāu lawe ʻana. Kōkua kēia i kāu kauka e pale aku i nā pilina a hoʻolālā i kāu lapaʻau me ka palekana.

E hoʻomākaukau i nā nīnau e pili ana i kāu kūlana, nā koho lapaʻau, a me ka mea e manaʻo ai. E nīnau e pili ana i nā pae cholesterol pahuhopu, nā hopena ʻaoʻao o nā lāʻau lapaʻau, a me ka pinepine o kāu pono e nānā hou. Mai kānalua e noi i ka wehewehe inā ʻaʻole maopopo kekahi mea.

He aha ke kī lawe ʻana e pili ana i ka Familial Hypercholesterolemia?

ʻO ka familial hypercholesterolemia kahi kūlana genetic hiki ke hoʻokele ʻia e pono ai ka lapaʻau ola lōʻihi, akā me ka mālama kūpono, hiki iā ʻoe ke ola i kahi ola piha a olakino. He mea nui ka ʻike mua ʻana a me ka lapaʻau no ka pale ʻana i ka maʻi naʻau a me nā pilikia ʻē aʻe.

ʻO ka mea nui loa e hoʻomanaʻo ai ʻaʻole kēia kūlana kāu hewa, a ʻaʻole ia he mea āu i hiki ke pale aku ai ma o nā koho ʻano ola. He hoʻololi genetic wale nō ia e hoʻopilikia ana i ke ʻano o ka hana ʻana o kou kino i ka cholesterol.

Me nā lapaʻau maikaʻi o kēia lā, hiki i nā kānaka me ka familial hypercholesterolemia ke hoʻokō i nā pae cholesterol kokoke i ka maʻamau a hoʻemi nui i kā lākou mau pilikia cardiovascular. ʻO ke kī ka hana pili loa me kāu hui mālama olakino a me ka noho kūpaʻa i kāu papahana lapaʻau.

Nā Nīnau Pinepine e pili ana i ka Familial Hypercholesterolemia

Q1: Hiki i nā keiki ke loaʻa ka familial hypercholesterolemia?

ʻAe, hiki i nā keiki ke hānau ʻia me ka familial hypercholesterolemia ʻoiai he kūlana genetic ia. Paipai ʻia ka nānā pediatric no nā keiki me nā mākua i pilikia, maʻamau e hoʻomaka ana ma kahi o 2 mau makahiki. ʻAe ka ʻike mua ʻana i nā hoʻololi ʻano ola a, inā pono, nā lāʻau lapaʻau e pale aku i nā pilikia naʻau i ka wā e hiki mai ana.

Q2: E maʻamau anei koʻu mau pae cholesterol me kēia kūlana?

ʻOiai ʻaʻole paha e hiki i kāu cholesterol i nā pae like me kekahi me ka ʻole o ke kūlana, hiki i ka lapaʻau maikaʻi ke hoʻohaʻahaʻa nui i kou mau pae. Loaʻa i nā kānaka he nui me ka familial hypercholesterolemia nā pae cholesterol pahuhopu e hoʻemi ai i kā lākou pilikia cardiovascular i nā pae kokoke i ka maʻamau me ka mālama lāʻau kūpono a me ka hoʻokele ʻano ola.

Q3: Pono anei au e hahai i kahi ʻai kūikawā me ka familial hypercholesterolemia?

ʻOiai ʻaʻole e hoʻōla nā loli ʻai wale nō i ka familial hypercholesterolemia, hiki i ka hahai ʻana i kahi ʻai olakino naʻau ke kākoʻo i kāu lapaʻau lāʻau. E nānā i ka kaupalena ʻana i nā momona saturated, nā momona trans, a me ka cholesterol meaʻai ʻoiai e hoʻoikaika ana i nā hua, nā mea kanu, nā huaola holoʻokoʻa, a me nā protein liʻiliʻi. Hiki i kāu kauka a i ʻole kahi mea ʻai i hoʻopaʻa ʻia ke hāʻawi i nā ʻōlelo aʻo pilikino.

Q4: Hiki iaʻu ke hoʻoili i kēia kūlana i kaʻu mau keiki?

ʻAe, hiki ke hoʻoili ʻia ka familial hypercholesterolemia i nā keiki. Inā loaʻa iā ʻoe ke kūlana, loaʻa i kēlā me kēia keiki ka 50% manawa o ka hoʻoilina ʻana. Hiki i ka ʻōlelo aʻo genetic ke kōkua iā ʻoe e hoʻomaopopo i nā pilikia a me nā pono o ka hoʻolālā ʻohana, a hiki i ka nānā mua ʻana ke hōʻoia i ka lapaʻau wikiwiki inā pilikia kāu mau keiki.

Q5: Aia kekahi mau lapaʻau maoli no ka familial hypercholesterolemia?

ʻOiai hiki i nā hana maoli e like me ka hoʻoikaika kino, ka ʻai olakino, a me kekahi mau mea hoʻohui ke kōkua i ke kākoʻo ʻana i ka olakino cardiovascular holoʻokoʻa, ʻaʻole lawa lākou e mālama wale i ka familial hypercholesterolemia. Pono pinepine kēia kūlana genetic i nā lāʻau lapaʻau i kuhikuhi ʻia e hoʻokō i nā pae cholesterol palekana. E kūkākūkā mau i nā lāʻau lapaʻau maoli me kāu kauka ma mua o ka ho'āʻo ʻana iā lākou.