Ingabe ukhona emndenini wakho obe nomdlavuza wamathumbu amakhulu? Wozani, ake sixoxe ngalesi simo sofuzo (Familial Adenomatous Polyposis - FAP)!

Ingabe ukhona emndenini wakho, mhlawumbe esemncane, oke waba nomdlavuza wamathumbu amakhulu? Noma ingabe udokotela ukutshelile ukuthi unezimila ezincane (ama-polyp) kumathumbu amakhulu akho kanye nezinkinga zesisu? Kungakhathaliseki ukuthi uke wezwa ngento enjalo noma cha, kungaba kubaluleke kakhulu ukuqaphela lesi simo esibizwa ngokuthi 'i-FAP' esizokhuluma ngaso namuhla. Ngoba nakuba singavamile kancane, uma sibonakala kusenesikhathi, singakusindisa ezinkingeni eziningi ezinkulu.

Kuyini i-FAP ngamagama alula?

Kalula nje, i-Familial Adenomatous Polyposis, noma i-FAP ngamafuphi, yisimo sofuzo esibangela inani elikhulu lama-polyps amancane (ama-polyps) abizwa ngokuthi ama-adenoma, angaba umdlavuza, ukuthi akheke kukholoni yakho futhi ngezinye izikhathi ngaphakathi kwe-rectum yakho.

Cabanga ngakho, abanye abantu bakha eyodwa noma ezimbili zalezi zimila emathunjini abo njengoba bekhula. Lokho kuvamile. Kodwa kumuntu one-'FAP', bavame ukuba nezimila ezingaphezu kwekhulu, ngezinye izikhathi izinkulungwane , kodwa ziqala ukukhula zisencane kakhulu, mhlawumbe zineminyaka eyishumi ubudala. Ngakho-ke, ithuba lokuthi enye yalezi zimila izophenduka umdlavuza ('umdlavuza we-colorectal'), okungukuthi, ingozi empilweni yonke, iphezulu kakhulu .

Ukuze kulawulwe le ngozi, odokotela bavame ukuncoma ukuhlinzwa ukuze kususwe lonke ikholoni (i-total colectomy) . Ngezinye izikhathi, i-rectum nayo iyasuswa (i-proctocolectomy). Lokhu kungenxa yokuthi ku-FAP, lawa mathumba akhula ngokushesha kakhulu ukuba angalawulwa ngokuwasusa ngalinye ngalinye. Eqinisweni, uma lokhu kuhlinzwa kungenziwa, abantu abaningi abane-FAP bazoba nomdlavuza lapho sebekhulile .

Abantu abane-FAP bangahlakulela ezinye izinhlobo zezimila, hhayi nje kuphela emathunjini, kodwa nakwezinye izindawo, njengesikhumba, izicubu ezithambile, amazinyo, namathambo. Ngisho nangemva kokuba ithunjini selisusiwe, kungadingeka uqhubeke nokuhlolwa ukuze uhlole lezi ezinye izimila, futhi kungadingeka ukuthi uhlinzwe nazo.

Iyini ingozi yokuthola umdlavuza kubantu abane-FAP?

Uma ingelashwa, umuntu one-FAP unethuba elicishe libe yi-100% lokuthola umdlavuza wamathumbu amakhulu. Futhi, umdlavuza ungakhula kusenesikhathi futhi usemncane kunabanye abantu. Uma ilungu lomndeni laziwa ukuthi linalesi simo, izingane kuleyo mindeni kufanele zenze i-colonoscopy njalo ngonyaka kusukela eminyakeni eyi-10 .

Ngaphezu komdlavuza wamathumbu amakhulu, abantu abane-FAP basengozini yokuthola ezinye izinhlobo zomdlavuza:

• Umdlavuza wengxenye engenhla yamathumbu amancane (`umdlavuza we-duodenal`) - cishe u-8%
• Umdlavuza we-thyroid we-papillary - cishe u-2%
• Umdlavuza we-pancreatic - cishe u-2%
• Umdlavuza wesibindi obizwa ngokuthi ``Hepatoblastoma`` (ikakhulukazi ezinganeni) - cishe u-1.5%
• Umdlavuza wesisu - cishe u-1%
• Izimila zobuchopho nomgogodla - ngaphansi kuka-1%

Ingabe kunezinhlobo ezahlukene zama-FAP?

Yebo, kukhona uhlobo oluyinhloko lwe-'FAP' kanye nezinye izinhlobo eziningana ngaphezu kwalokho.

• I-FAP "Ejwayelekile": Lokhu kuhilela ama-adenoma angaphezu kwe-100 kukholoni.
• I-"Attenuated" FAP (AFAP): Lolu uhlobo oluncane olungelubi kangako. Kunezinhlobo zama-cyst eziphakathi kuka-20 no-100 emathunjini amakhulu.
• I-Gardner syndrome: Njenge-'FAP' yakudala, kunezimila ezingaphezu kwe-100 emathunjini amakhulu. Ngaphezu kwalokho, ezinye izinhlobo zezimila zikhula kwenye indawo emzimbeni.
• I-Turcot syndrome: Isimila somdlavuza sikhula ebuchosheni kanye nezimila eziningi emathunjini.

Sivame kangakanani lesi simo esibizwa ngokuthi i-FAP?

I-FAP yisimo esingavamile kakhulu . Sithinta cishe umuntu oyedwa kwabangu-8,000. I-FAP ibangela cishe u-0.5% wazo zonke izinhlobo zomdlavuza wamathumbu amakhulu. Izinhlobo ezincane ezifana ne-AFAP, i-Gardner syndrome, kanye ne-Turcotte syndrome azivamile neze.

Uyini umehluko phakathi kwe-FAP kanye ne-Lynch syndrome?

I-Lynch syndrome ingenye inkinga ezuzwa njengefa eyandisa ingozi yokuba nomdlavuza wamathumbu amakhulu kanye neminye imidlavuza. I-Lynch syndrome ibizwa nangokuthi i-HNPCC (i-hereditary nonpolyposis colorectal cancer syndrome). Njengoba igama lisikisela, lokhu akusho ukuthi inani elikhulu lezimila zamathumbu amakhulu liyakhula .

Abantu abane-Lynch syndrome bangaba nomdlavuza ngisho noma benesimila esisodwa noma ngaphezulu emathunjini amakhulu. Futhi, izimila nomdlavuza kukhula kamuva kancane kune-FAP, futhi ingozi iphansi kancane. Lezi zimo ezimbili zibangelwa ukushintshashintsha kwezakhi zofuzo okuhlukile .

Ziyini izimpawu ze-FAP? Sizibona kanjani?

Ku-FAP, ama-polyp ekholoni aqala ukwakheka kusenesikhathi kakhulu kunakubantu abaningi, ngokuvamile eminyakeni yobusha . Lawa ma-polyp angase angabangeli zimpawu kuze kube yilapho esemakhulu ngendlela eyingozi. Kodwa uma une-colonoscopy, udokotela wakho angawathola.

Abantu abane-'FAP' bangaba namakhulu noma izinkulungwane zama-polyp emathunjini abo . Abantu abane-'AFAP' okungenani bane-20. Ngenxa yokuthi ama-polyp maningi futhi akhula ngokushesha ku-'FAP', kungenzeka kakhulu ukuthi abangele izimpawu kunalezo ezibangelwa ama-polyp. Izimpawu zifaka:

• Ukopha kwegazi endulo
• Uhudo
• Ubuhlungu besisu obungapheli

Abantu abane-FAP ngezinye izikhathi bangase babe nezimpawu odokotela abangazibona ngaphandle:

• Ama-Dermatofibromas: Amaqhubu anjengezibazi ngaphansi kwesikhumba anemicu.
• Ama-cyst e-Epidermal: Amaqhubu agcwele i-keratin, ayindilinga atholakala ngaphansi kwesikhumba.
• Ama-Osteoma: Izimila ezingezona umdlavuza ezakheka emathanjeni. Zivame ukutholakala ethanjeni lomhlathi noma ekhanda.
• Amazinyo engeziwe noma amazinyo athintekile:Lokhu kungabonakala ku-X-ray yamazinyo.
• I-Congenital hypertrophy ye-retinal pigment epithelium (CHRPE): Lokhu kungabonakala ngesikhathi sokuhlolwa kwamehlo. Kodwa-ke, ngokuvamile akubangeli izinkinga zokubona.

Izimpawu ze-FAP zivame ukuqala nini eminyakeni emingaki?

Ku-FAP, ukukhula kwekholoni kuvame ukuqala cishe eminyakeni eyi-16. Ku-AFAP, kungaqala kamuva. Uma abazali bakho nodokotela bazi ukuthi usengozini yalesi simo, bangase baqale ukukuhlola ngemva kweminyaka eyi-10. Uma ungakwenzi lokho, ungase utholakale unalesi simo ngenxa yezimpawu zakho.

Iyini imbangela eyinhloko ye-FAP?

Imbangela eyinhloko ye-FAP ukuguquka kwezakhi zofuzo . Le gene ibizwa ngokuthi i-adenomatous polyposis coli (APC) gene . Ibizwa nangokuthi i-tumor suppressor gene. Lokhu kusho ukuthi le gene ivimbela amangqamuzana ekukhuleni ngaphandle kokulawulwa futhi akhe amathumba. Lapho kwenzeka ukuguquka kwezakhi zofuzo, umsebenzi wale gene uyaphazamiseka.

Ukuguquka kwezakhi zofuzo okubangela i-FAP ukuguqulwa kwezakhi zofuzo. Lokhu kusho ukuthi akuyona into eyenzeka ngesikhathi sokuphila, kodwa into eyenzeka ngesikhathi sokukhulelwa . Lokhu kuyinto edluliselwa esizukulwaneni kuya kwesinye. Uma omunye wabazali bakho enalolu guquko, unethuba elingu-50% lokuluzuza njengefa . Kodwa-ke, cishe u-30% walolu guquko lusha (ukuguqulwa kokuqala), okungukuthi, aluzuzwa njengefa . Ngakho-ke, cishe u-30% weziguli ezitholakale zine-FAP kungenzeka zingenawo umlando womndeni walesi sifo.

Yiziphi izinkinga ezingaba khona ze-FAP?

Inkinga ebaluleke kakhulu okufanele uyilawule ku-FAP umdlavuza wamathumbu amakhulu . Ukuhlinzwa kokususa ikholoni yakho (i-colectomy) kunganciphisa kakhulu le ngozi. Kodwa-ke, ukuhlala ngaphandle kwekholoni kungaba nemiphumela ethile empilweni yakho ngoba indlela odlula ngayo indle iyashintsha. Kungase kudingeke usebenzise isikhwama se-ileostomy noma isikhwama se-ileal esikhundleni sekholoni elikhulu.

Ngenxa yokuthi ukuguquka kwezakhi zofuzo okubangela i-FAP kukhona kuwo wonke amaseli emzimbeni wakho, amathumba angakhula noma kuphi emzimbeni wakho . Amanye amathumba angakhula nangaphandle kwekholoni, futhi ngezinye izikhathi angaba umdlavuza. Udokotela wakho angase ancome ishejuli yokuhlola ukuze abheke lezi zinhlobo zamathumba:

• Ama-polyps e-Duodenal/periampullary:Lokhu kuvela engxenyeni engenhla yamathumbu akho amancane (i-duodenum), noma lapho i-bile duct noma i-pancreatic duct ihlangana khona namathumbu amancane. Cishe wonke umuntu one-FAP uba nalokhu. Inani elincane labantu lingaba nomdlavuza we-duodenal, umdlavuza we-ampullary, umdlavuza we-pancreatic emgudwini, noma umdlavuza we-bile duct.
• Ama-polyp esisu: Cishe abantu abangu-90% abane-FAP bahlakulela ama-polyp esisu, kodwa yi-1% kuphela yalawa akhula abe umdlavuza.
• Izimila ezi-Desmoid: Lezi yizimila ezingezona umdlavuza ezakheka ezicutshini ezixhumeneyo. Ziyenzeka kubantu abangaba ngu-15% abane-FAP. Nakuba zingewona umdlavuza, ngezinye izikhathi zingadala izinkinga ezinkulu zempilo ngisho nokufa. Zingaba nolaka kakhulu, zisakazeke ezakhiweni eziseduze, futhi zicindezele noma zivale imithambo yegazi, izitho zomzimba, kanye nemizwa. Kunzima ukuzisusa futhi zingaphinde zivele.
• Umdlavuza we-thyroid we-Papillary: Lolu hlobo lomdlavuza we-thyroid lwenzeka kubantu abangaba ngu-2% abane-FAP. Awunangozi kangako futhi uvame ukuphulukiswa.
• Umdlavuza wesibindi: Izingane ezine-FAP, ikakhulukazi, zinengozi encane yokuba nomdlavuza wesibindi ongavamile obizwa ngokuthi i-hepatoblastoma.
• I-Medulloblastoma: Lona umdlavuza wobuchopho. Ungavela ne-Turcot syndrome, ehlotshaniswa ne-FAP. Ngisho ne-FAP, ayivamile kakhulu.
• Ama-polyp asemathunjini: Uma ungasuswa i-rectum yakho kanye ne-colon yakho, usengozini yokuthola ama-polyp asemathunjini, ngakho kuzodingeka ukuthi uhlolwe i-proctoscopy impilo yakho yonke.

Wazi kanjani ukuthi une-FAP?

Uma ufuna ukwazi ukuthi uzuze yini i-APC gene mutation, ungathola ngokwenza ukuhlolwa kwezakhi zofuzo . Ukuhlolwa kwezakhi zofuzo kuthatha isampula ye-DNA yakho (njengegazi noma amathe) bese kubheka ukuguquka kwezakhi zofuzo ezithile. Uma une-mutation, isinyathelo esilandelayo ukuba ne-colonoscopy ukuhlola ama-adenoma.

I-FAP itholakala uma kukhona okungenani ama-polyp ayi-100 (ama-20 uma kuyi-AFAP) kanye nokuba khona kokuguqulwa kwezakhi zofuzo ze-APC . I-FAP akuyona yodwa isimo esizuzwa njengefa esibangela ama-polyp adenomatous. I-polyposis ehlobene ne-MUTYH iyisimo esifanayo, kodwa ibangelwa ukuguqulwa kwezakhi zofuzo ezahlukene ezibizwa ngokuthi i-MUTYH.

Luyini uhlelo lokwelashwa komuntu one-FAP?

Uhlelo lokwelapha i-FAP luhlanganisa ukuqapha impilo yonke kanye nokuhlinzwa okuyimpoqo.Ezigabeni zokuqala, uma unenani elincane lama-polyp (noma i-AFAP), udokotela wakho angase awasuse ngamanye ngesikhathi sokuhlolwa kwe-colonoscopy (i-polypectomy). Uma ama-polyp eba makhulu kakhulu noma eba nomdlavuza, kungase kudingeke ukuhlinzwa.

Ukuhlinzwa

Iningi labantu abane-FAP yakudala kuzodingeka bahlinzwe ngokuphelele lapho sebeneminyaka engamashumi amabili noma ekuqaleni kweminyaka engamashumi amathathu . Udokotela wakho uzonquma ukuthi uzohlinzwa nini ngokusekelwe ezintweni ezithile eziyingozi. Uzokhuluma nawe ngezinhlobo ezahlukene ze-colectomy ongaba nazo.

Uma ikholoni lakho lisusiwe, kwakheka igebe phakathi kwamathumbu akho amancane kanye ne-rectum (noma i-anus). Ngezinye izikhathi, udokotela ohlinzayo angaxhumanisa lezi zinhlangothi ezimbili. Ngemuva kwalokho ungaba nokunyakaza kwamathumbu nge-rectum yakho njengenjwayelo. Uma lokho kungenzeki, bazokwakha 'i-ostomy', okuwumgodi omusha esiswini sakho ukuze indle yakho iphume.

Ukuhlola

Ithimba lakho lezokwelapha lizokweluleka ngokuthi kufanele uhlolwe kangaki izinhlobo ezahlukene zamathumba, ngokusekelwe ezicini zakho eziyingozi. Ku-FAP yakudala, ama-colonoscopies anconywa njalo ngonyaka kusukela eminyakeni eyi-10 kuze kube yilapho kwenziwa i-colectomy . Ku-AFAP, ukuhlolwa kufanele kuqale njalo ngonyaka, ngisho nalapho uneminyaka engama-20.

Ngemva kokuhlinzwa kwe-colectomy, kufanele uqhubeke nokuhlolwa kwe-sigmoidoscopy, okuhlola ingxenye engezansi yesistimu yakho yokugaya ukudla (GI - umgudu wokugaya ukudla). Uma unengxenye ye-rectum yakho esele, kufanele ihlolwe okungenani njalo ezinyangeni eziyi-6 kuya kweziyi-12. Uma i-rectum yakho isusiwe futhi yafakwa isikhwama se-ileal, kufanele ihlolwe okungenani njalo eminyakeni eyi-1 kuya kweyi-4.

Ezinye izivivinyo ezihleliwe zingafaka:

• I-endoscopy Ephezulu: Lokhu kufana ne-colonoscopy, kodwa kwenziwa engxenyeni engenhla yesistimu yakho yokugaya ukudla. I-endoscope idluliselwa emphinjeni wakho iye esiswini sakho kanye nasengxenyeni engenhla yamathumbu akho amancane (i-duodenum) ukuhlola ama-polyps. Uma ekhona, udokotela wakho angawasusa ngesikhathi esifanayo nenqubo.
• Ukuhlolwa kwe-ultrasound komdlavuza we-thyroid noma wesibindi.
• Ukuhlolwa kwe-CT scan (i-computed tomography scan) noma i-MRI (magnetic resonance imaging) kwama-tumors angabonakali.

Ingabe i-FAP ingavinjelwa?

Ukwelulekwa ngofuzo ukuze uqonde ingozi yokudlulisela isimo se-FAP ezinganeni zakhoKungasiza. Ukukhuluma ngalezi zingozi kungakusiza ukuthi uhlele umndeni wakho. Ngokuvamile, akunakwenzeka ukuvimbela ukuguquka kwezakhi zofuzo ukuthi kwenzeke ngesikhathi sokukhulelwa, kodwa kunezindlela ezahlukene zokuhlela umndeni ongazicabangela.

Ingakanani iminyaka yokuphila komuntu one-FAP?

Uma ingelashwa, isilinganiso sobude bokuphila singaba yiminyaka engama-42 . Kodwa-ke, ngokunakekelwa okufanele kwezokwelapha nokwelashwa, ungaphila impilo evamile . Ngemva kokususwa kwekholoni lakho, ingozi yakho enkulu ivela kwezinye izinhlobo zomdlavuza wokugaya ukudla kanye nezimila 'eziyizinkinga'. Lezi azivamile kakhulu kunomdlavuza wamathumbu amakhulu.

Uma nginalesi simo, yini okufanele ngiyilindele?

Uma kutholakale ukuthi une-FAP, ungalindela ukuthi ube nokuhlolwa kwezokwelapha impilo yonke kanye nokuhlinzwa okuningana ukuze kususwe izimila . Izimila ezikhula ngaphandle kwekholoni lakho cishe azinawo amathuba okuba nomdlavuza kunama-polyp kukholoni lakho. Nakuba izimila ezithambile zingewona umdlavuza, ngezinye izikhathi zingaba yinkinga encane noma zibe yinkinga enkulu.

Ungalindela ukuthi uhlinzwe ngokuphelele ngaphambi kwesikhathi . Ngemva kwalokho, amathumbu akho angase aphinde axhumane, noma ungase ube nesikhwama se-ileal noma i-ostomy. Izinketho ngazinye ziphethe ingozi yezinkinga ezithile. Kodwa-ke, usengaphila impilo ende nenempilo ngemva kohlinzwa ngokuphelele.

Kuvamile ukuzizwa udangele futhi ukhathazekile lapho uthola ukuthi unesifo sofuzo esizodinga ukunakekelwa kwezokwelapha impilo yakho yonke. Kodwa-ke, uma usuyazi, ungathatha izinyathelo zokulawula ingozi yakho yomdlavuza . Nakuba ukuhlinzwa kusesikhathini sakho esizayo, odokotela bazozama ukukwenza kube lula ngangokunokwenzeka.

Abantu abaningi bangenza inqubo ye-laparoscopic ukuze kususwe ikholoni, eyenziwa ngokusika okuncane futhi iphole ngokushesha . Abantu abanesikhwama se-ileal kungadingeka bahlinzwe kaningana, kodwa ekugcineni bazokwazi ukusebenzisa indlu yangasese njengakuqala.

Izinto ezibaluleke kakhulu okufanele uzikhumbule kulokho esixoxe ngakho (Umyalezo Wokuya Ekhaya)

Kulungile, ngakho-ke, kusukela kulokho esikhulume ngakho nge-'FAP', nazi izinto ezibaluleke kakhulu okudingeka uzikhumbule:

• I-FAP yisimo sofuzo esingadluliselwa ezizukulwaneni ngezizukulwane.
• Lokhu kubangela ukwakheka kwamakhulu noma izinkulungwane zama-polyp ku-colon, okungaba umdlavuza.
• Uma ingelashwa, ingozi yokuba nomdlavuza wamathumbu iphezulu kakhulu .
• Kubaluleke kakhulu ukuqala ukuhlolwa kwe-colonoscopy kusukela esemncane (iminyaka eyi-10-12) .
• Ukwelashwa okuyinhloko ukuhlinzwa kokususa ikholoni (i-colectomy) .
• Ngisho nangemva kokususwa kwekholoni, kudingeka ukuhlolwa impilo yonke ukuze kuhlolwe ukuthi azikho yini izimila ezikhula kwenye indawo emzimbeni.
• Nakuba lesi kuyisimo sokuphila konke okumele siphathwe, ngokwelashwa nokuhlolwa okufanele, kungenzeka ukuphila impilo evamile nenempilo .

Uma wena noma othile emndenini wakho enanoma yiziphi zalezi zimpawu, noma uma ufuna ukwazi okwengeziwe ngalokhu, funa iseluleko sezokwelapha . Ukuqwashisa kusenesikhathi kanye nesenzo sokuqala yizinto ezibaluleke kakhulu.

` I-FAP, i-Familial Adenomatous Polyposis, Izifo Zofuzo, i-Colon Polyps, umdlavuza we-Colon, i-APC Gene, i-Colonoscopy, i-Colectomy, ukuhlinzwa