Cholesterol chungchang kan sawi fo thin a, chu chu kan buaipui fo thin a ni lawm ni? Mahse, han ngaihtuah teh, naupan lai atang tawhin, naupan lai pawhin a ni mai thei, cholesterol level chu a pangngai lo taka a sanna natna chi thlahtu (hereditary disease) i hre tawh em? Vawiin hian chutiang natna hmuh tur awm lo mahse pawimawh tak pakhat chu kan sawi dawn a ni. Hei hi Homozygous Family Hypercholesterolemia (HoFH) an ti a. A hming hi a buaithlak deuh nachungin, awlsam takin i hrethiam ang u.
Homozygous Family Hypercholesterolemia tih hi eng nge ni?
A awlsam zawngin sawi ila, hei hi genetic disease a ni a, kan taksain kan thisen atanga cholesterol "tha lo", chu chu LDL (Low-Density Lipoprotein) cholesterol chu paih chhuah a harsat phah a ni. Cholesterol hi kan cell-te mamawh waxy substance a ni tih kan hre vek. LDL cholesterol hna chu he cholesterol hi thisen kaltlangin taksa pum puiah a phurh chhuah hi a ni.
Mahse LDL level a san lutuk chuan he extra cholesterol hi kan thinlung, thisen kalna kawng (arteries)-a thisen petu thisen kalna kawngah a lo awm tan ta a ni. Hun a kal zel a, heng thil awmte hian thisen kalna kawngte a tikhawlo thei a, thinlunga thisen leh oxygen a titawp thei a, thinlung natna vei theihna a tipung thei bawk .
He natna hi pianpui a ni. Chumi awmzia chu naupan lai atang tawhin cholesterol sang tak i nei thei tihna a ni. Hei hi natna khirh tak, tihdam theih loh, dam chhung zawnga enkawl ngai a ni.
Enkawl loh chuan he natna vei mipa kum 40 vel leh hmeichhia kum 50 vel an nih chuan lung natna an vei thei a ni. Chuvangin, hei hi hriat chian a, enkawlna dik zawn a pawimawh hle.
Hei hi eng nge a chhan?
Hei hi genetic disease kan ti a. Strict takin sawi ila, he natna hi i vei theihna chu gene pakhat copy pahnih, i nu hnen atanga pakhat leh pakhat chu i pa hnen atanga i rochun chauh a ni .
A tlangpuiin kan thin hian thisen atanga LDL cholesterol tam lutuk chu a paih chhuak thin. Hemi atan hian liver hian ‘LDL receptor’ bik a nei a. Chûngte chu magnet ang mai a ni a, cholesterol chu a man a, thisen a\angin a paih chhuak a ni. Mahse he natna vei mi pakhatah chuan a rochun gene defective avang hian heng receptor te hian hna an thawk tha lo hle. Chumi rah chhuah chu cholesterol level chu thunun theih lohvin a sang chho ta a ni.
‘Heterozygous’ Family Hypercholesterolemia tih pawh i hre tawh mai thei. Hei hi gene chhia chu nu leh pa pakhat chauh atanga rochun a nih chuan a ni. He dinhmun hi ‘Homozygous’ angin a na lo.
He natna lan chhuah dan engte nge ni?
He natna hi hriat theihna atana hman theih symptom lian tak tak engemaw zat a awm. Table pakhatah han en ila.
| Mihring ziarang | Hrilhfiahna |
|---|---|
| Cholesterol level sang tak a ni | Cholesterol level zawng zawng hi 600 mg/dL emaw a aia sang emaw a ni thei (hriselna level chu 200 aia tlem a ni). |
| Vun chhunga thil awm (Xanthomas) . | Vun hnuaiah chuan elbows, knees leh buttocks ah yellow, waxy lumps a awm. Chungte chu cholesterol deposit a ni. |
| Mitmeng chunga thil awm (Xanthelasmas) . | Mitmengah thau sen (yellow fatty deposit) a awm. |
| Mit inthlak danglamna (Arcus cornealis) . | Mit dum vel chu grey emaw white emaw ring. |
| Lung lam natna lan chhuah dan | A natna lan chhuah dan, rilru na (angina), thawk hah, leh thinlung na chak tak te hi kum naupang takah a awm thei. |
Engtin nge natna hi kan hriat theih ang?
Heng symptoms te hi i neih chuan doctor pan a pawimawh. Doctor chuan physical exam a ti hmasa ang a, zawhna tlem a zawt ang che.
- I vunah hian yellow spot ang chi hi i hmu tawh em?
- I rilru a na em?
- Thâwk lak harsa i ti em?
- I nu leh pate pawhin cholesterol sang an nei em?
Tichuan, i doctor chuan thisen test a ti ang a, i cholesterol level a enfiah ang. Tin, natna thlentu gene dik lo i neih leh neih loh enfiah nan genetic test an ti thei bawk. I doctor chuan i chhungte hnai tak takte pawh a test thei bawk.
Enkawl dan leh enkawl dan
Enkawlna tum ber chu i LDL cholesterol level tihhniam leh thinlung natna vei theihna tihtlem a ni.Hetiang cholesterol natna lama tui doctor (Lipidologist) hnenah i refer fo ang.
Nunphung leh ei leh in lama inthlak danglamna
A hmasa ber atan chuan thinlung hriselna atana tha ei tur, saturated fat, cholesterol leh sugar tlem te ei hi a ni. Meizial zuk bânsan te, zu tihkhawtlai te, nitin exercise lak te pawh a pawimawh hle.
Damdawi chi hrang hrang
I cholesterol level a sang lutuk avangin statin dose sang tak i ei tan thei a, chu chuan liver-in cholesterol a siam chhuah lohna turin hna a thawk a ni.
Chumi rual chuan ei tur atanga cholesterol lakluh tihtlem thei damdawi dang (e.g. Ezetimibe , PCSK9 inhibitors , Lomitapide ) te pawh a tel thei bawk.
Enkawlna bikte
Damdawi chauh hmanga cholesterol control theih a nih loh chuan enkawl dan dang ngaihtuah a ngai dawn a ni.
- Apheresis: Hei hi kal vei tan dialysis ang chiah a ni. Damdawi inah machine nen in connect a, i thisen chu i taksa atangin lakchhuah a ni a, LDL cholesterol chu filter chhuakin, thisen tihfai chu i taksaah a let leh thin. Hei hi darkar engemaw zat a daih a, tih reng a ngai a ni.
- Liver Transplant: A chunga kan sawi zawng zawng hi a hlawhtling lo a nih chuan liver transplant hi a hnuhnung ber a ni thei. Liver hrisel thar hian LDL receptor a nei a, hei hian cholesterol control turin a pui thei a ni. Hei hi surgery pawi tak a ni a, dam lehna tur hian thla 6 atanga kum khat chhung a daih thei.
Chutiang enkawlna na tak kan tawk dawn chuan chhungte leh thiante hnen atanga rilru lama puihna dil a pawimawh hle. Hemi chungchang hi i doctor nen inhawng takin sawi rawh.
Take-Home Thuchah a ni
- Homozygous Familial Hypercholesterolemia hi genetic condition na tak, mahse a awm lo hle a, cholesterol level sang tak a thlen thin.
- Hei hi an nu leh pa pahnih hnen atangin gene chhia pahnih an rochun vang a ni.
- Kum naupan lai atanga enkawl leh enkawl tan a nih chuan kum naupan lai atanga thinlung natna vei theihna a tlahniam thei a ni.
- Enkawlna hi dam chhung zawng a ni a, damdawi, ei leh in, exercise, leh specialized treatment (apheresis) te pawh a tel thei bawk.
- I chhungkuaa mi tu emaw hian kum naupang tak a\angin lung natna emaw, cholesterol sang emaw a nei tawh a nih chuan, i doctor-in a thurawn angin i cholesterol chu enfiah tir la, i tan a finthlak hle ang.
- He zinkawngah hian nangmah chauh i ni lo. He natna hi hlawhtling taka enkawl turin i doctor, chhungte leh support group te nen thawk ho rawh.
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