I fa hian a hring chhuak nghal em? Hereditary Angioedema (HAE) chungchang hi han sawi ila!

I fa tê tê chu an taksa hmun hrang hrangah, a châng chuan an hmai, kut leh ke-ah te a lo hring chhuak nghal tih i hmu ngai em? A nih loh leh i fa hian pum na nen thawk harsatna a lantir em? Heng symptoms hnuaiah hian thil awm lo tak mahse pawimawh tak a awm mai thei. Vawiin hian chutiang dinhmun pakhat kan sawi dawn a, chu chu `Hereditary Angioedema (HAE) a ni. Lungngai suh, he thu hi i hriatthiam theih tur awlsam takin kan sawi dawn a ni.

Hei hi eng nge ni `Hereditary Angioedema (HAE)`?

A awlsam zawngin, `Hereditary Angioedema` (a tawi zawngin `HAE` tia hriat bawk) hi a awm lo hle a, genetic (chu chu thlah kal zelah a darh thei tihna a ni) a ni. I fa taksa peng hrang hrangah a hring chhuak thin. He hliam hi pawn lam atanga hmuh theih hmun, kut, ke leh hmaiah te, a châng chuan kan hmuh theih lohna hmunah te, naupang thawkna kawng (breathing system) emaw digestive system (guts) emaw tissue-ah te a awm thei a ni.

Tunah chuan engvangin nge he swelling hi a lo awm tih i ngaihtuah mai thei. He hliam hi naupang taksa chhunga thisen kalna kawng te tak te, ``Capillaries'' tia koh te hian tui an chhuah a, a chhehvel tissue ah an khawl khawm thin vang a ni. He tui hi a inzawm khawm chuan an kal tlanga thisen emaw lymph emaw kal tur chu a tikhawlo thei a ni. He swelling leh a kaihhnawih symptoms (``HAE attacks'' tia koh bawk) te hi engtikah nge a lo awm dawn tih hriat a harsa hle. Tin, a chang chuan hei hi a hring te te nen a tawp thei a, mahse a chang chuan nunna atana hlauhawm khawpa na a ni thei bawk.

Damdawi lamah chuan "angio" (`Angio-`) tih hian thisen kalna kawng a kawk a. "Edema` (`-edema`) tih hian tissue-a tui a pungkhawm vanga swelling a kawk a. `angioedema` chi hrang hrang a awm a, chhan hrang hrang nei vek a ni. `HAE` hi heng zinga a tlem ber a ni. `congenital` an ti a, chu chu mi pakhat chu he natna neia piang a ni tihna a ni."

I fa chu HAE a vei tih hmuhchhuah a nih chuan i beisei tur chu i chiang lo hle mai thei. Mahse hei hi hriatna chuan i rilru a ti hahdam thei ang: HAE vei kum tin, naupangte pawh tiamin, enkawlna thar chungchangah zirchianna kalpui mek a ni. I doctor chuan i fa tan eng enkawlna nge tha tih leh nakin lawka i beisei tur te hriatthiamna a pe thei che a ni.

`HAE` chi hrang hrang a awm em?

Ni e, `HAE` hi `angioedema` chi khat ni mah se, doctor-te chuan `HAE` hi chi dang engemaw zatah an ṭhen a:

• Type I HAE: Hei hi type hman tlanglawn ber a ni . HAE vei zawng zawng zinga 85% vel chuan hetiang chi hi an nei a ni. Hei hi naupang taksain protein bik C1-inhibitor (C1-INH tia hriat bawk) a siam chhuah tlem vang a ni. He C1-INH protein hi a tlem chuan taksaah inflammation leh swelling a awm thei a ni. Hei hi C1-INH tlakchhamna an ti bawk.
• Type II HAE: Hei hi chi hnihna a ni. Hetiang a nih chuan naupang taksain C1-INH protein a siam chhuak a, mahse a thawk tha lo.
• HAE with normal C1-INH: Hei hi a tam ber chi a ni . Naupang C1-INH protein level leh activity hi a pangngai a, mahse chhan dang vangin a hring chhuak thin.

A chi hmasa pahnih (Type I leh Type II HAE) te hi an inzawm khawm chuan mi 50,000 zinga 1 velin an nghawng a ni . Chumi awmzia chu United States ang ramah hian mi 6,000 velin he HAE chi hi an vei tihna a ni. Researcher-te chuan HAE vei mi engzat nge C1-INH level pangngai nei tih chiang takin an hre lo a, mahse a tlem hle niin an sawi.

HAE natna lan chhuah dan chu engte nge ni?

HAE natna lan chhuah dan hi mi hrang hrangah a inang lo thei. A lan chhuah dan tlangpui thenkhat chu:

• Naupang taksa hmun hrang hranga lo lang chhuak, entirnan , kut, ke, mitmeng, hmui, leh mipat hmeichhiatna hmun .
• Naupang chaw ei kawng (Gastrointestinal (GI) tract) a inflammation symptoms. Hei hian rilru hahna, luak chhuak, pum na, leh riltam te a huam thei .
• Naupang hmui, a rilru leh thawkna kawng a hring chhuak avanga natna lan chhuah dan . Chûng zîngah chuan ei harsa, lei hring, thawk chhuah laiin raspy ri, leh aw inthlâk danglamna te pawh a tel thei .

A pawimawh ber: I fain thawk harsatna emaw, ei leh in emaw a neih chuan emergency room hnai ber ko la emaw, i fa chu damdawi inah hruai nghal rawh. Thlipui tleh hi HAE natna khirh tak, nunna atana hlauhawm tak a ni. Enkawl vat loh chuan thihna thlen thei a ni.

HAE hian hives a thlen lo. Hei hi HAE leh angioedema chi dang, acute allergic angioedema te inthlauhna ber a ni. Mahse, HAE vei thenkhat chuan an hring chhuak hmain non-itchy red rash an nei thei a, hei hi attack lo awm tur chhinchhiahna a ni thei.

`HAE attack` hi ni thum atanga ni nga vel a ni tlangpui . Heng `attack` te hi a lo thleng thut a, a bo nghal bawk a, chuvangin engtikah nge a thlen dawn tih leh engtin nge a thlen dawn tih chiang taka sawi a harsa hle.

HAE symptoms hi engtikah nge a intan?

HAE symptoms hi naupan lai emaw tleirawl emaw atanga tan a ni tlangpui . Puitling laiin an na zual thei. Naupang thenkhat chuan kum 2 an nih atang pawhin symptoms an nei tan thei . HAE type I emaw II vei zinga 50% vel chuan kum 10 an tlin chuan symptoms an nei a, puitlin hnuah heng attack te hi a tam zawkin a na zual thei bawk. HAE type I emaw II vei zawng zawng deuhthaw hian kum 20 an tlin chuan symptoms an nei vek a ni.

HAE vei, C1-INH level pangngai nei te hian a hnu deuh deuhin an lo lang thin – a tlangpuiin an tleirawl lai emaw, an puitlin hma emaw a ni.

HAE attack thlentu thilte chu engte nge ni?

HAE attack thlentu ``trigger`` dik tak chu eng nge ni tih a chiang lo fo. Mahse, ``triggers`` hmuhchhuah thenkhat chu:

• Taksa hliam emaw, accident tenau emaw: Ni khat chu i fa chu inkhelh laiin a tlu ang tih han mitthla teh.
• Ha enkawlna: Ha lakchhuah emaw, ha khat emaw ang chi thil.
• Surgery: Operation , tenau emaw, lian emaw pawh ni se.
• Stress emaw emotional pressure emaw: School exam emaw, ṭhian nena insual tenau emaw pawhin nghawng a nei thei.
• Viral infection: Flu leh khawsik ang chi thil.
• Taksa lam thiltih thenkhat: Entirnan, type chhunzawm zel te, hammer hmanga vuak te, emaw, hruihrual hmanga lei laih te ang chi thil te.

I fain attack a neih chhan chu i hrethiam nghal lo mai thei. Mahse, attack a thlen hun leh chutih laia naupang thil tih (entir nan, naupang chu a damlo emaw, a stress emaw) journal-a ziah chu a \angkai hle thei a ni.

HAE awm chhan dik tak chu eng nge ni?

HAE type I leh II pahnih hi SERPING1 tih gene-a mutation (or change) vang a ni. He gene hian i fa taksaah C1-INH tih protein siam dan tur a hrilh a ni. I fa hian HAE type I a neih chuan he gene mutation hian an taksa hian C1-INH a siam tling thei lo tihna a ni. I fa hian HAE type II a neih chuan an taksa hian C1-INH a siam thei a, mahse gene mutation hian protein hian hna a thawk tha lo tihna a ni.

Researcher-te chuan C1-INH level pangngai nei HAE awm chhan hi an la chhui mek a, mahse a hnuaia gene-a mutations hi a mawhphurtu a ni thei tih an hria a ni:

• `F12` tih a ni
• `ANGPT1` tih a ni
• `PLG` tih a ni
• `KNG1` tih a ni

A then phei chuan HAE hi identified genetic mutation awm lovin a awm thei bawk. Doctor-te chuan hei hi "HAE-unknown" tiin an sawi.

HAE thlentu genetic mutations hian naupang taksaa protein thenkhat chu a thawk tha lo a ni. Heng protein te hian naupang thisen kalna kawng te tak te (capillaries) kaltlangin tui a kal dan pangngaiin a pui thin. Chuvangin, heng protein te hian hna an thawk tha lo a nih chuan tui te chu a leak chhuak a, naupang thisen kalna vel tissue ah te a pung khawm thin. Chu chu HAE symptoms thlentu a ni.

HAE hi chhungkua atanga lo chhuak a ni em?

Ni e, HAE hi autosomal dominant pattern-ah inherit a ni. A awlsam zawngin, chu natna thlentu tur chuan gene pangngai lo pakhat chauh a mamawh a ni. Naupang chuan he gene danglam tak hi an nu emaw, an pa emaw aṭangin a rochun thei a ni.

HAE vei tam tak chuan chhungkaw history-ah he natna hi an nei tawh a ni. Mahse, a chang chuan mi pakhat hian chhungkaw history nei lovin random takin gene mutation ("de novo" emaw "new" mutation) a nei thei a ni.

Doctor-te hian engtin nge hei hi an hmuh?

I fain HAE symptoms a neih chuan doctor chuan a hnuaia mi ang hian a ti ang:

• Taksa enfiahna a ti thin .
• I fa symptoms leh medical history te zawh i ni ang.
• Naupang `C1-INH` level leh activity enfiah nan thisen test an ti thin .
• A then phei chuan HAE thlentu genetic mutations a awm leh awm loh enfiah nan genetic testing an nei thin.

HAE enkawl dan tur chu engte nge ni?

HAE vei tan damdawi chi hnih a awm a, chungte chu:

• On-demand medications: Hei hi HAE attack a awm veleh pek nghal thin damdawi te an ni. Entirnan, damdawi Berinert® emaw Kalbitor® emaw ang chi te. Heng damdawi te hi natna lan chhuah tan hnua a rang thei ang bera ei hian attack nasatzia a tiziaawm thei a, nunna atana hlauhawm harsatna pawh a veng thei bawk.
• Prophylactic medications: Heng damdawi te hi attack neih theihna tur ti tlemtu damdawi te an ni. Entirnan, Cinryze®, Haegarda®, emaw Takhzyro® emaw te hi a ni. Doctor chuan heng damdawi te hi a chhan hriat tawh (ha enkawltu hnena zin ang chi) chhunga hman tur emaw, hun rei tak hman tur emaw atan a pe thei a, chu chu i fa mamawh dan azirin a ni.

Damdawi lama mithiamte sawi dan chuan on-demand damdawi hi a pawimawh a, nunna chhanhim thei a ni. I fain prophylactic damdawi a ei a nih pawhin heng on-demand damdawi te hi engtik lai pawhin, hmun tinah (in leh sikulah) a awm tur a ni.

Doctor chuan i fain eng damdawi nge a mamawh tih chiang takin a hrilh ang che, engtin nge a pek ang tih leh engtikah nge a pek ang. I fate kum a zirin eng damdawi nge pek theih tih pawh a hrilhfiah bawk ang. Thupekte chu zawm chiang la, i hriat chian loh thil a awm chuan zawhna zawt ngei ang che.

Engtiang chiahin nge enkawl hnuah ka dam leh thuai ang?

On-demand damdawi hmang hian i fa chu HAE attack laiin a dam thuai tan ang. A natna lan chhuah dan chu enkawl tan atanga minute 30 atanga darkar hnih chhungin a tha leh tur a ni. I doctor chuan in lama enkawlna enkawl dan tur leh beisei tur chungchang a hrilh belh ang che.

HAE vei naupang chu engtin nge kan enkawl ang?

I fain HAE attack a vei i hmuh hian tanpui theih lohvin i inhria mai thei. Mahse, i fate tan hian attack hma, attack lai leh attack hnua i tih theih tam tak a awm a:

• On-demand damdawi chu i kutah dah fo ang che: Chûngte chu nunna chhanhim thei a ni. I fain heng damdawi te hi engtikah nge a mamawh tih i hre thei tur a ni. Tin, pek dan tur pawh i hre tur a ni. Hemi chungchang hi i doctor chuan a hrilh belh ang che.
• HAE attack hi allergy angin enkawl suh: Damdawi antihistamine leh epinephrine, allergy atana pek thin te hian HAE attack hi a pui dawn lo. Chuvangin heng damdawi te hi i fa hnenah pe suh.
• Attack thlen thei trigger te hre reng ang che: Trigger hi mi hrang hrangah a inang lo. I fate chunga attack thlen thei thilte list siam la, i doctor hnenah share rawh. I fa chu chutiang thil tichhuaktute lakah chuan a theih ang anga hlat tir tum ang che. I pumpelh theih loh chuan i doctor hnenah prophylactic damdawi chungchang zawt la.

Engtikah nge Doctor i hmuh a ngaih?

Hengte hi doctor pan rawh:

• I fa hian `Hereditary Angioedema` symptom a nei nia i hriat chuan.
• HAE attack nena inzawm symptom thar a lo lang a nih chuan, emaw, symptom awmsa a danglam chuan.
• I fa damdawiin beisei angin a thawk lo niin a lang a nih chuan.

Engtikah nge emergency room-ah i kal a ngaih?

I fain a hnuaia thilte hi a tawk a nih chuan , emergency room-ah kal nghal rawh:

• A ei harsa a nih chuan.
• Thâwk harsa i neih chuan.
• Lei emaw, kawr emaw a hring chhuak tih i hmuh chuan (attack chhinchhiahna hmasa berah damdawi pek i nih pawhin).

Hengte hi i fate thawkna kawng tichhe thei khawpa natna hlauhawm tak chhinchhiahna a ni thei. Enkawlna zawng chu tikhawtlai suh. He hliam hi nunna atana hlauhawm tak a ni thei.

Doctor hnenah eng zawhna nge i zawh tur?

Doctor hnenah hetiang zawhna hi i zawt thei ang:

• Ka fa hian eng ang HAE nge a neih?
• Eng enkawlna nge i rawt?
• Engtin nge ka fain on-demand damdawi a mamawh hun ka hriat theih ang?
• Ka fa hian invenna damdawi a mamawh em? A nih chuan engtikah nge?
• Ka fain a pumpelh tur thiltih emaw, dinhmun emaw a awm em?
• Ka fa hmalam hun (outlook) chungchangah eng nge i sawi theih ang?

HAE vei naupang tan engtin nge beiseina kan neih theih ang?

HAE hi dam chhung zawnga natna a ni. Mahse, enkawlna hian naupang nunah a natnain nghawng a neih chu a ti tlem thei a ni. Tin, nunna atana hlauhawm symptoms, naupang thawkna kawng swelling ang chi te pawh a ti tlem thei bawk.

HAE hi ven theih a ni em?

Tunah hian HAE ven dan tur hriat a la ni lo. Nang emaw i kawppui emaw hian HAE i nei a, naute neih i tum a nih chuan,I fain he natna hi a rochun theihna chance i hriatthiam theih nan genetic counselor nen inbiakna neih a tha hle .

I tan thuchah pawimawh tak a ni.

I fa hian HAE ang chi genetic condition a nei tih i hriat chuan rilru natna chi hrang hrang i nei thei a: hlauhna, lungkhamna, buaina leh lungngaihna. Nangmah pawh i mawhpuh mai thei. Mahse i hriat tur pawimawh ber chu he diagnosis hi i sualna a ni lo tih hi a ni.

Genetic mutations hi a thleng fo thin a, a chhan hriat lohvin a thleng fo thin. I fain a rochun genes te chu i control thei lo. Mahse i fa enkawlna kawngah hian active role i nei thei a – a chang chuan "i tha ang" tih thlamuan mai mai a ni.

Patient support group-a tel ve pawh a \angkai thei bawk. HAE vei naupang nu leh pate, chutiang bawkin puitling he natna vei te nena inbiakna hian thurawn leh beng ngaithla thei che a ni. HAE hi a tlem hle laiin, i chhungte chu anmahni chauh an ni lo tih a hriat nawn tir thei bawk.

` Hereditary Angioedema, HAE, hring, C1 inhibitor, genetic natna, naupang hring, angioedema