Ese ni iki Familial Hypercholesterolemia? Ibimenyetso, Intandaro, n'Ubuvuzi

Familial hypercholesterolemia ni indwara ivuka mu muryango iterwa na gène, ikaba itera umubiri kugira urwego rwo hejuru cyane rwa kolesterol kuva umuntu avutse. Bitandukanye n'ibibazo bya kolesterol bivuka bitewe n'imirire cyangwa imibereho, iyi ndwara ikwirakwira mu muryango kandi igira ingaruka ku buryo umwijima wawe utunganya kolesterol.

Abantu bagera kuri umwe kuri 250 bafite iyi ndwara, nubwo abenshi batayizi. Urwego rwa kolesterol yawe rushobora kuba ruhanamye inshuro 2 kugeza kuri 4 ugereranyije n'ubusanzwe, ibyo bikaba bigushyira mu kaga ko kurwara indwara z'umutima mu gihe kiri hasi ugereranyije n'abandi bantu.

Ese ni iki Familial Hypercholesterolemia?

Familial hypercholesterolemia ibaho iyo warazwe gène mbi zigengura uburyo bwo gutunganya kolesterol. Umwijima wawe ntushobora gukuraho LDL cholesterol (kolesterol « mbi ») mu maraso yawe neza.

Tekereza kuri yo nk'inzitizi mu mubiri wawe. Amijima asanzwe afite « inzira » zihagije zo gukuraho kolesterol, ariko kuri iyi ndwara, inzira nyinshi muri izo ziba zifunze. Ibi bituma kolesterol yubaka mu maraso yawe kandi amaherezo mu mitsi yawe.

Hari ubwoko bubiri nyamukuru. Heterozygous familial hypercholesterolemia bisobanura ko warazwe gène imwe mbi kuva ku mubyeyi umwe. Homozygous familial hypercholesterolemia bisobanura ko warazwe gène mbi zombi kuva ku babyeyi bombi, bigatuma iba ikomeye cyane ariko kandi iba nke cyane.

Ibimenyetso bya Familial Hypercholesterolemia ni ibihe?

Abantu benshi bafite familial hypercholesterolemia ntabwo barwara cyangwa bagira ibimenyetso bigaragara. Kolesterol nyinshi ikora mu ibanga, niyo mpamvu akenshi yitwa indwara « ituje ».

Ariko kandi, hari ibimenyetso by'umubiri bishobora kugaragara bikaba byakugira inama:

• Uduheri tw'umuhondo cyangwa ibice by'umuhondo hafi y'amaso (bitwa xanthelasma)
• Uduheri tw'umuhondo ku ntoki, amaguru, cyangwa amavi (tendon xanthomas)
• Uruziga rw'umweru-umuhondo ruzunguruka igice gifite ibara ry'ijisho (corneal arcus)
• Kubabara mu kifuba cyangwa guhumeka nabi mu gihe ukora imyitozo ngororamubiri
• Kugira ikibazo cy'umutima cyangwa ikibazo cy'ubwonko hakiri kare mu bagize umuryango

Ibi bimenyetso bigaragara birakunda kugaragara mu bantu bafite ubwoko bukomeye bw'iyi ndwara. Abantu benshi basanga bafite familial hypercholesterolemia mu bipimo by'amaraso bisanzwe cyangwa nyuma y'uko umuntu wo mu muryango abimenyeshejwe.

Ubwoko bwa Familial Hypercholesterolemia ni ubuhe?

Hari ubwoko bubiri nyamukuru bushingiye ku mubare wa gène mbi warazwe. Ubwoko ufite bugira ingaruka ku buryo urwego rwa kolesterol yawe ruzaba rukomeye n'igihe ibibazo bishobora gutangira.

Heterozygous familial hypercholesterolemia ni ubwoko bwakunze kugaragara. Warazwe gène imwe isanzwe n'imwe mbi, bityo umwijima wawe ukora ku gice. Kolesterol yawe yose ikunze kuba hagati ya 300-500 mg/dL, kandi ibibazo by'umutima bikunze kugaragara mu myaka 40 cyangwa 50.

Homozygous familial hypercholesterolemia ni nke cyane ariko ikaba ikomeye. Warazwe gène mbi zombi kuva ku babyeyi bombi, bityo umwijima wawe uhangana cyane no gukuraho kolesterol. Kolesterol yawe ishobora kugera kuri 600-1000 mg/dL cyangwa hejuru, kandi ibibazo by'umutima bishobora gutangira mu bwana cyangwa mu myaka y'ubwangavu.

Ese ni iki giterwa na Familial Hypercholesterolemia?

Familial hypercholesterolemia iterwa n'impinduka mu gène zifasha umwijima wawe gukuraho kolesterol mu maraso yawe. Gène ikunze kugaragara ni LDLR, ikora reseptori zifata kolesterol mu maraso yawe.

Iyo izi gène zitakora neza, umwijima wawe ntushobora gukuraho kolesterol neza. Ni nk'aho ufite imiryango mike ya kolesterol yo kuva mu maraso yawe, bityo ikubaka uko igihe gihita.

Ibi ni ibintu by'umurage gusa kandi ntabwo bifitanye isano n'imirire yawe, imyitozo ngororamubiri, cyangwa imibereho yawe. Uvuka ufite iyi ndwara kuko warazwe kuva ku mubyeyi umwe cyangwa bombi. Niba umubyeyi umwe ayifite, buri mwana afite amahirwe 50% yo kuyirazira.

Ni ryari ukwiye kubona muganga kubera Familial Hypercholesterolemia?

Ukwiye kubona muganga niba ufite amateka y'umuryango afite kolesterol nyinshi, ibibazo by'umutima byabaye hakiri kare, cyangwa ibibazo by'ubwonko. Gupimwa birakomeye cyane niba umubyeyi, umuvandimwe, cyangwa umwana yaramaze kuvurwa familial hypercholesterolemia.

Tegura gahunda yo kubona muganga niba ubona uduheri tw'umuhondo hafi y'amaso cyangwa ku ngingo zawe. Ibi bimenyetso by'umubiri bikunze kugaragaza urwego rwo hejuru cyane rwa kolesterol rusaba ubuvuzi.

Ntugatege amatwi niba ufite ububabare mu kifuba, guhumeka nabi, cyangwa ibindi bimenyetso bifitanye isano n'umutima. Nubwo wumva umeze neza, gupima kolesterol bisanzwe uhereye mu myaka yawe ya 20 bishobora gufata iyi ndwara hakiri kare iyo ubuvuzi bugira ingaruka.

Ibyago bya Familial Hypercholesterolemia ni ibihe?

Ikintu gikomeye cyane ni ukugira umubyeyi ufite familial hypercholesterolemia. Kubera ko ari umurage, ntushobora kurwara iyi ndwara udafite gène mbi urazwe mu muryango wawe.

Ibyago byawe biterwa n'imiterere y'umuryango wawe:

• Umubyeyi umwe ufite iyi ndwara akugira amahirwe 50% yo kuyifite
• Babyeyi bombi bafite iyi ndwara bisobanura ko uzayifite rwose
• Abavandimwe cyangwa abana b'abantu barwaye bafite amahirwe menshi
• Amwe moko, nka ba Canada b'Abafaransa na ba Afrikaners, bafite umubare munini
• Abantu bafite umurage w'Abayahudi ba Ashkenazi bashobora kugira ubwoko bwihariye bwa gène

Bitandukanye n'ibindi bibazo bya kolesterol, imirire yawe, ibiro, cyangwa imyitozo ngororamubiri ntibitera familial hypercholesterolemia. Ariko kandi, ibyo bintu by'imibereho bishobora kugira ingaruka ku buryo urwego rwa kolesterol yawe ruzaba rukomeye n'uburyo ibibazo byihuse byihuse.

Ingaruka zishoboka za Familial Hypercholesterolemia ni izihe?

Ikintu gikomeye cyane kuri familial hypercholesterolemia ni uko cyongera cyane ibyago byo kurwara indwara z'umutima n'ibibazo by'ubwonko mu gihe kiri hasi. Utabonye ubuvuzi, abantu bafite iyi ndwara bakunze kugira ibibazo by'umutima hakiri kare ugereranyije n'abaturage muri rusange.

Ingaruka zisanzwe zirimo:

• Indwara y'imitsi y'umutima (imitsi ifunze igana ku mutima wawe)
• Ibibazo by'umutima, bikunze kubaho mu myaka 40 cyangwa 50
• Ikibazo cy'ubwonko giterwa n'imitsi ifunze igana ku bwonko bwawe
• Indwara y'imitsi yo ku maguru (imitsi ifunze mu maguru yawe)
• Indwara y'umuvure wa aortic iterwa no kubaka kolesterol

Inkuru nziza ni uko kuvurwa hakiri kare no kuvurwa bishobora kugabanya cyane ibyo byago. Hamwe no gucunga neza, abantu benshi bafite familial hypercholesterolemia babaho ubuzima busanzwe, bwiza batagize ibyo bibazo bikomeye.

Familial Hypercholesterolemia ishobora kwirindwa gute?

Kubera ko familial hypercholesterolemia ari umurage, ntushobora kwirinda kurwara iyi ndwara ubwayo. Ariko kandi, ushobora gufata ingamba zo kwirinda cyangwa gutinda ingaruka zayo umaze kumenya ko uyifite.

Gupimwa hakiri kare ni yo ngamba nziza yo kwirinda. Niba ufite amateka y'umuryango, gupimwa mu myaka yawe ya 20 bibemerera kuvurwa hakiri kare mbere y'uko imitsi yangirika.

Nubwo utahindura gène zawe, imibereho myiza ishobora gufasha gucunga urwego rwa kolesterol yawe. Imikino ngororamubiri, imirire myiza y'umutima, kudakoresha itabi, no kugira ibiro byiza byose bishyigikira ubuvuzi bwawe kandi bigabanya ibyago by'indwara z'umutima.

Familial Hypercholesterolemia imenyekanwa gute?

Kumenya iyi ndwara bitangira hakoreshejwe ikizamini cy'amaraso cyoroshye cyitwa lipid panel gipima urwego rwa kolesterol yawe. Muganga wawe azashaka kolesterol yose iri hejuru ya 300 mg/dL cyangwa LDL cholesterol iri hejuru ya 190 mg/dL, cyane cyane niba uri muto kandi umeze neza.

Muganga wawe azakubaza ibibazo birambuye ku mateka y'umuryango wawe. Azashaka kumenya niba ababyeyi, abavandimwe, cyangwa abana bagize kolesterol nyinshi, ibibazo by'umutima byabaye hakiri kare, cyangwa ibibazo by'ubwonko.

Ibizamini bya gène bishobora kwemeza iyi ndwara bimenya impinduka zihariye za gène. Ibi bizamini birafasha cyane mu gupima umuryango no kumenya neza ubwoko ufite. Bamwe mu bantu kandi bapima uburyo umwijima wabo utunganya kolesterol.

Ubuvuzi bwa Familial Hypercholesterolemia ni ubuhe?

Ubuvuzi bugamije kugabanya urwego rwa kolesterol yawe kugira ngo ugabanye ibyago byo kurwara indwara z'umutima n'ibibazo by'ubwonko. Intego ni ukugira LDL cholesterol hasi bishoboka, akenshi munsi ya 70 mg/dL.

Abantu benshi bakeneye imiti y'amabwiriza yitwa statins, ifasha umwijima wawe gukora neza. Statins zisanzwe zirimo atorvastatin, rosuvastatin, na simvastatin. Muganga wawe ashobora gutangira rimwe hanyuma agakora impinduka ku muzingo cyangwa yongere imiti indi uko bibaye ngombwa.

Ku bintu bikomeye cyangwa iyo statins zidahagije, ubundi buvuzi burimo:

• PCSK9 inhibitors (imiti iterwa inshuro 2-4 mu cyumweru)
• Ezetimibe (ibuza kolesterol gufata mu mara)
• Bile acid sequestrants (ifasha gukuraho kolesterol mu mubiri wawe)
• LDL apheresis (uburyo bwo gukuraho kolesterol mu maraso yawe)

Abantu bafite homozygous familial hypercholesterolemia bashobora gukenera ubuvuzi bukomeye nko gukuraho kolesterol buri gihe cyangwa no kubaga umwijima mu bihe bitoroshye. Ikintu nyamukuru ni ugukorana na muganga wawe kugira ngo umenye uburyo bukubereye.

Uburyo bwo kuvurwa iwawe muri Familial Hypercholesterolemia?

Nubwo imiti ari ingenzi, impinduka mu mibereho zishobora gushyigikira ubuvuzi bwawe kandi zikagufasha kumva umeze neza. Tekereza kuri ibi nk'ibikoresho bikorana n'amabwiriza yawe, si ibyasimbura.

Fata imirire myiza y'umutima ifite imbuto nyinshi, imboga, ibinyampeke byuzuye, na poroteyine nke. Gabanya amavuta yuzuye, amavuta ya trans, n'ibiribwa byinshi bya kolesterol, ariko wibuke ko iyi ndwara idaterwa n'imirire.

Imikino ngororamubiri buri gihe ifasha uburyo bwawe bw'umutima gukomeza. Gerageza byibuze iminota 150 y'imyitozo ngororamubiri buri cyumweru, nko kugenda vuba, koga, cyangwa kugendera kuri velo. Tangira buhoro buhoro hanyuma wiyubake buhoro buhoro niba utaramenyera imyitozo ngororamubiri.

Fata imiti yawe uko yategetswe, nubwo wumva umeze neza. Shyiraho gahunda cyangwa koresha ibikoresho byo kubika imiti kugira ngo bikwibutse. Ntugahagarike gufata imiti udahamagaye muganga wawe mbere, kuko urwego rwa kolesterol yawe rushobora kwiyongera vuba.

Uko wakwitegura kugira ngo ubone muganga?

Kora amateka y'ubuzima bw'umuryango wawe mbere y'uko ubonana na muganga, ugerageza indwara z'umutima, kolesterol nyinshi, n'urupfu rwa hakiri kare. Andika abagize umuryango bagize ibyo bibazo n'imyaka byabaye.

Zana urutonde rw'imiti yose, ibintu byongera imbaraga, na vitamine ukoresha ubu. Kora urutonde rw'ibyo ukoresha, n'igihe ubikoresha. Ibi bifasha muganga wawe kwirinda guhuza imiti no gutegura ubuvuzi bwawe neza.

Tegura ibibazo ku ndwara yawe, uburyo bwo kuvurwa, n'icyo utegereje. Baza ku rwego rwa kolesterol ugomba kugeraho, ingaruka zishoboka z'imiti, n'igihe uzakenera gupimwa ukundi. Ntugatinye gusaba ibisobanuro niba hari ikintu kitumvikana.

Icyo ugomba kumenya cyane kuri Familial Hypercholesterolemia?

Familial hypercholesterolemia ni indwara ivuka mu muryango ishobora kuvurwa isaba ubuvuzi ubuzima bwawe bwose, ariko hamwe no kwitaho neza, ushobora kubaho ubuzima buhamye kandi bwiza. Kuvurwa hakiri kare no kuvurwa ni ingenzi mu kwirinda indwara z'umutima n'izindi ngaruka.

Ikintu cy'ingenzi cyo kwibuka ni uko iyi ndwara atari amakosa yawe, kandi ntabwo ari ikintu washoboraga kwirinda binyuze mu mibereho yawe. Ni impinduka gusa mu murako zifitanye isano n'uburyo umubiri wawe utunganya kolesterol.

Hamwe n'ubu buvuzi bugira ingaruka, abantu bafite familial hypercholesterolemia bashobora kugera ku rwego rwa kolesterol hafi y'ubusanzwe kandi bagabanya cyane ibyago by'indwara z'umutima. Ikintu nyamukuru ni ugukorana na itsinda ryawe ry'ubuvuzi no gukomeza gahunda yawe y'ubuvuzi.

Ibibazo Bikunze Kubazwa Kuri Familial Hypercholesterolemia

Q1: Abana bashobora kugira familial hypercholesterolemia?

Yego, abana bashobora kuvuka bafite familial hypercholesterolemia kuko ari indwara ivuka mu muryango. Gupima abana birakenewe ku bana bafite ababyeyi barwaye, bisanzwe bitangira hafi y'imyaka 2. Kumenya hakiri kare bibemerera guhindura imibereho kandi, niba bibaye ngombwa, imiti yo kwirinda ibibazo by'umutima mu gihe kizaza.

Q2: Urwego rwa kolesterol yanjye ruzagera ku rwego rusanzwe rufite iyi ndwara?

Nubwo kolesterol yawe ishobora kutagera ku rwego rumwe n'uwutayifite, ubuvuzi bugira ingaruka bushobora kugabanya urwego rwayo cyane. Abantu benshi bafite familial hypercholesterolemia bagera ku rwego rwa kolesterol bagabanya ibyago by'indwara z'umutima ku rwego rwa hafi y'ubusanzwe hamwe no gufata imiti neza no gucunga imibereho.

Q3: Nkeneye gukurikiza imirire yihariye muri familial hypercholesterolemia?

Nubwo guhindura imirire gusa bitavura familial hypercholesterolemia, gukurikiza imirire myiza y'umutima bishobora gushyigikira ubuvuzi bwawe. Fata amavuta yuzuye, amavuta ya trans, na kolesterol yo mu biribwa mu gihe ushimangira imbuto, imboga, ibinyampeke byuzuye, na poroteyine nke. Muganga wawe cyangwa umuhanga mu mirire ashobora kugira inama yihariye.

Q4: Nshobora guha iyi ndwara abana banjye?

Yego, familial hypercholesterolemia ishobora guhabwa abana. Niba ufite iyi ndwara, buri mwana afite amahirwe 50% yo kuyirazira. Inama ku muryango ishobora kugufasha kumva ibyago n'inyungu zo kubyara, kandi gupimwa hakiri kare bishobora gutuma ubuvuzi butangira vuba niba abana bawe barwaye.

Q5: Hari ubuvuzi bw'umwimerere bwa familial hypercholesterolemia?

Nubwo uburyo bw'umwimerere nko gukora imyitozo ngororamubiri, imirire myiza, n'ibindi bintu byongera imbaraga bishobora gufasha gushyigikira ubuzima bw'umutima muri rusange, ntibihagije kuvura familial hypercholesterolemia wenyine. Iyi ndwara ivuka mu muryango isaba imiti y'amabwiriza kugira ngo igerere urwego rwa kolesterol rukwiye. Itegereze ibindi byose ubanza uhamagare muganga wawe.