Iyini i-Familial Adenomatous Polyposis? Izimpawu, Izimbangela, & Ukwelashwa

I-Familial adenomatous polyposis (FAP) iyisimo esingavamile sezofuzo esibangela ukukhula kwamakhulu noma izinkulungwane zezinto ezincane ezibizwa ngama-polyps emathunjini akho amakhulu nasekuhlomuleni. La ma-polyps ahlala elungile ekuqaleni, kodwa cishe azothola umdlavuza uma engaqaphelwa.

Lesi simo esidluliselwa ezizukulwaneni sithinta cishe umuntu omunye ku-10,000 emhlabeni jikelele. Nakuba i-FAP ingase ibe nzima uma uqala ukuyazi, ukuqonda isimo sakho nokusebenzisana neqembu lakho lokunakekelwa kwezempilo kungakusiza ukuthi uyilawule kahle futhi ugcine ikhwalithi yokuphila enhle.

Ziyini izimpawu ze-Familial Adenomatous Polyposis?

Izimpawu ze-FAP ngokuvamile aziveli kuze kube ngeminyaka yakho yobusha noma ekuqaleni kwama-twenties, lapho ama-polyps esethole isikhathi sokuthuthuka nokukhula. Abantu abaningi abane-FAP ababonisi zimpawu ezinyathelweni zokuqala, kungakho ukuhlolwa okuvamile kubalulekile emindenini enalesi simo.

Uma izimpawu zivele, ungase uhlangabezane nezibonakaliso eziningi ezixwayisa ukuthi kukhona okudinga ukunakekelwa kwezokwelapha:

• Igazi emathunjini akho noma ukuphuma kwegazi ekuhlomuleni
• Ukushintsha emikhwenyoni yakho yomathumbu, njengokweluka noma ukuvimbela
• Ubuhlungu noma ukugcwala esiswini okungapheli
• Ukwehla kwesisindo okungachazeki
• Ukukhathala okubonakala kuya kubi ngokuhamba kwesikhathi
• I-anemia ngenxa yokulahlekelwa igazi okuqhubekayo

Abanye abantu abane-FAP bathuthukisa nokukhula okungelona umdlavuza kwezinye izingxenye zomzimba wabo. Lokhu kungafaka phakathi izigaxa ezincane ngaphansi kwesikhumba sakho, amazinyo engeziwe, noma ukukhula esiswini sakho.

Khumbula, ukuba nalezi zimpawu akusho ukuthi une-FAP. Izinkinga eziningi ezivamile zokugaya ukudla zingabangela izinkinga ezifanayo, ngakho kubalulekile ukukhuluma nodokotela wakho ngalokho okukuhlangabezana nakho.

Ziyini izinhlobo ze-Familial Adenomatous Polyposis?

IFAP iza ngezinhlobo ezimbili eziyinhloko, nokuqonda ukuthi yiluphi uhlobo onalo kusiza udokotela wakho ukuba enze uhlelo lokwelapha oluhle kakhulu olufanele isimo sakho.

IFAP eqhelekile yiyona ebanzi kakhulu, lapho uthuthukisa khona ama-polyps amakhulu kuya kumakhulu emathunjini akho amakhulu nezinhlungwini. Abantu abaningi abane-FAP eqhelekile bazophula umdlavuza we-colorectal ngaphambi kweminyaka engama-40 uma amathumbu abo amakhulu engasuswa.

IFAP ehlisiwe (AFAP) inguqulo ehlanzekile lapho uthuthukisa khona ama-polyps ambalwa, ngokuvamile phakathi kwama-10 nama-100. Ama-polyps ku-AFAP avame ukuvela kamuva ekuphileni, ngokuvamile eminyakeni engama-40 noma engama-50, futhi ingozi yomdlavuza ithuthuka kancane.

Kukhona futhi uhlobo olukhulu olukhulu kakhulu oluthiwa yi-Gardner syndrome, oluhlanganisa ama-polyps emathunjini amakhulu e-FAP nokwanda kwezinye izingxenye zomzimba wakho. Abantu abane-Gardner syndrome bangathuthukisa ukukhula kwama-bone, ama-cysts esikhumba, namazinyo engeziwe kanye nama-polyps emathunjini abo amakhulu.

Yini ebangela i-Familial Adenomatous Polyposis?

IFAP iyenzeka ngenxa yokushintsha kwijini elithile elibizwa nge-APC, eliqondisa ngokujwayelekile indlela amaseli akhula futhi ahlukaniswe ngayo emathunjini akho amakhulu. Uma leli jini lingasebenzi kahle, amaseli akhula ngaphandle kokulawulwa futhi akhe ama-polyps.

Abantu abaningi abane-FAP bayadlulisela i-gene ephosakele komunye wabazali babo. Uma omunye wabazali bakho ene-FAP, unethuba elingu-50% lokuzuza lesimo. Lokhu kubizwa ngokuthi ukudluliselwa kwe-autosomal dominant, okusho ukuthi udinga ikhophi elilodwa nje le-gene eshintshile ukuze uthuthukise i-FAP.

Kodwa-ke, cishe amaphesenti angu-25 abantu abane-FAP abanalo umlando womndeni wesimo. Kulezi zimo, ukushintsha kwe-gene kwenzeke ngokungazenzisi, kudala lokho odokotela abakubiza ngokuthi “de novo” mutation.

I-APC gene isebenza njenge-brake pedal yokukhula kwamaseli emathunjini akho amakhulu. Uma isebenza kahle, iyalela amaseli ukuthi ayeke ukukhula nokuhlukanisa. Uma i-gene iphosakele, amaseli alahlekelwa yilesi sisho esibalulekile sokuyeka futhi aqhubeka nokukhula, ekugcineni akhe ama-polyps.

Nini okufanele ubona udokotela nge-Familial Adenomatous Polyposis?

Kufanele ubone udokotela ngokushesha uma ubona igazi emathunjini akho, ikakhulukazi uma kwenzeka ngokuphindaphindiwe noma kuhambisana nezinye izimpawu ezinjengokuzwa ubuhlungu esiswini noma ukushintsha kwemikhuba yokuya esihlalweni. Nakuba lezi zimpawu zingaba nezizathu eziningi, zihlale zidinga ukunakekelwa kwezokwelapha.

Uma unomlando womndeni we-FAP noma umdlavuza we-colorectal, kubalulekile ukukhuluma nodokotela wakho ngokuhlolwa kwe-genetic kanye nokukhethwa, ngisho noma ungenawo noma yiziphi izimpawu. Ukuqala ukukhetha ngokushesha kungabamba ama-polyps ngaphambi kokuba abe yomdlavuza.

Hlela i-aphoyintimenti uma uhlangabezana nezimpawu zokugaya ukudla eziqhubekayo isikhathi esingaphezu kwamasonto ambalwa. Lokhu kuhlanganisa ukweluka okungapheli, ukuvimbela, ubuhlungu besisu, noma ukulahlekelwa isisindo okungachazwanga.

Ungalindi ukufuna usizo uma uzizwa ucindezelekile ngumlando womndeni we-FAP. Abaqeqeshwe ngezindaba ze-genetic bangakusiza ukuqonda ingozi yakho futhi wenze izinqumo ezisekelwe olwazini mayelana nokuhlolwa nokukhethwa.

Iyini imikhakha yezingozi ye-Familial Adenomatous Polyposis?

Umkhulu wakho wezingozi we-FAP ukuba nomzali onalesimo, njengoba i-FAP ikakhulukazi isifo esidluliselwa ezizukulwaneni. Uma omunye wabazali bakho enesifo se-FAP, unethuba elingu-50% lokudlulisela i-gene eyonakele.

Ukuba nomlando womndeni womdlavuza we-colorectal, ikakhulukazi uma kwenzeka eneminyaka emincane noma uma amalungu amaningi omndeni athintekile, kungase kuphakamise i-FAP emgqeni womndeni wakho. Ngezinye izikhathi i-FAP ayitholakali iminyaka eminingi uma amalungu omndeni efa eneminyaka emincane noma engafinyeleli ekunakekelweni kwezokwelapha okufanele.

Ubudala buthatha indima ekuqaleni kwezimpawu ze-FAP, kodwa hhayi ekuthuthukiseni yini lesimo. Uma uthwala i-gene ye-FAP, ama-polyps aqala ukwakheka ngesikhathi seminyaka yakho yobusha, yize ungase ungaboni izimpawu kuze kube ngeminyaka yakho yama-twenties noma yama-thirties.

Ngokungafani nezinye izimo zezempilo, izinto eziphathelene nokuziphatha komuntu njengokudla, ukuzivocavoca, noma ukubhema azibangeli i-FAP. Lesi simo sezakhiwo ze-genetic sikhula kungakhathaliseki ukuthi impilo yakho iphilile kangakanani, nakuba ukugcina impilo enhle iyonke kungakusiza ukuphatha lesi simo kangcono.

Ziyini izinhlanganisela ezingaba khona ze-Familial Adenomatous Polyposis?

Inhlanganisela eyingozi kakhulu ye-FAP yi-colorectal cancer, evela cishe ku-100% yabantu abangenayo i-classic FAP engaphathwe, ngokuvamile ngaphambi kweminyaka engu-40. Kungakho ukuhlinzwa okuvimbelayo kuvame ukunconywa ngaphambi kokuba umdlavuza ube nethuba lokuthuthuka.

Abantu abane-FAP babhekene nezinye izinselele zezempilo ezingathinta izingxenye ezahlukene zomzimba wabo:

• Umhlaza wesibindi esincane, ikakhulukazi e-duodenum (ingxenye yokuqala yesibindi sakho esincane)
• Ama-polyps esisu kanye nomdlavuza wesisu ongaqondakali
• Umhlaza we-thyroid, ikakhulukazi kwabesifazane abane-FAP
• Iziphumo zesibindi ebizwa ngokuthi yi-hepatoblastomas, ezingavamile kodwa zivame kakhulu kubantwana abane-FAP
• Iziphumo zobuchopho, nakuba lezi zingavamile kakhulu

Abanye abantu abane-FAP bathuthukisa iziphumo ze-desmoid, ezingukukhula okungeyona umdlavuza okungakha esiswini sakho, esifubeni, noma ezingalweni. Nakuba kungeyona umdlavuza, lezi ziphumo zingakhula zibe khulu bese zicindezela izitho eziseduze, ngezinye izikhathi kudingeka ukwelashwa.

Izindaba ezinhle ukuthi ngokubeka iliso okufanele nokwelashwa, izinhlanganisela eziningi zalezi zingavimbeka noma zitholakale ekuqaleni lapho zitholakala khona kalula. Ukuhlola njalo ngamaqembu akho ezempilo kubalulekile ekuqondeni izinkinga ezingaba khona.

I-Familial Adenomatous Polyposis ihlonishwa kanjani?

Ukuhlonishwa kwe-FAP ngokuvamile kuhilela ukuxubana kokuhlolwa kwe-genetic, i-colonoscopy, nokubuyekezwa komlando womndeni. Udokotela wakho uzoqala ngokubuza imibuzo eningiliziwe mayelana nezimpawu zakho nokuthi kukhona yini umuntu emndenini wakho oye waba nomdlavuza we-colorectal noma i-FAP.

I-colonoscopy iyona ivivinyo eliyinhloko elisebenziswa ukuthola ama-polyps esibindini sakho nase-rectum. Ngalesi senzo, udokotela wakho usebenzisa i-tube eguquguqukayo enekhamera ukuhlola ingaphakathi lesibindini sakho. Uma bethola ama-polyps ayizinkulungwane, ikakhulu kumuntu ongaphansi kweminyaka engama-50, i-FAP iba yithuba elikhulu.

Uvivinyo lwe-genetic lungaqinisekisa ukuxilongwa kwe-FAP ngokubukela izinguquko ku-gene le-APC. Lovivinyo usebenzisa isampula legazi elula futhi ngokuvamile lungakutshela ngokuqinisekile ukuthi une-gene le-FAP noma cha. Noma kunjalo, uvivinyo alulifumani ushintsho lwe-gene cishe ku-10-15% yabantu ababonakala be-FAP ngokuqondene nezimpawu zabo.

Udokotela wakho angase futhi akukhuthaze ukuthi wenze ezinye izivivinyo ukuhlola ama-polyps noma iziphumu ezingxenyeni ezahlukene zomzimba wakho. Lokhu kungafaka i-endoscopy ephezulu ukuhlola isisu sakho kanye nezinye izisu, noma izivivinyo ze-imaging ukuhlola i-thyroid yakho nezinye izitho.

Iyini ukwelashwa kwe-Familial Adenomatous Polyposis?

Ukwelashwa okuyinhloko kwe-FAP ukwelashwa okuvimbelayo kokususa isisu sakho ne-rectum ngaphambi kokuthi umdlavuza ukhule. Lokhu kungase kuzwakale kuyesabekayo, kodwa lezi zinqubo zingasindisa impilo futhi zikuvumele ukuthi uphile impilo evamile, enempilo ngemuva kwalokho.

Udokotela wakho we-surgeon ngokuvamile uzokukhuthaza enye yezinqubo ezimbili eziyinhloko. I-total proctocolectomy ene-ileostomy isusa lonke isisu sakho ne-rectum, futhi idala umgodi esiswini sakho lapho ukhukhwana ungaphuma khona uye ebhegini lokuqoqa. Ngale ndlela, i-total proctocolectomy ene-ileal pouch-anal anastomosis isusa isisu sakho ne-rectum kodwa idala isikhwama sangaphakathi esivela esibindini sakho esincane, ikuvumela ukuthi ube nezinto zokuzikhukhula ngokujwayelekile.

Isikhathi sokuhlinzwa siyancika ezintweni eziningi, kufaka phakathi ukuthi unama-polyps amingaki, noma ngabe kukhona okubonisa izimpawu zokuba umdlavuza, nobudala bakho nempilo yakho jikelele. Abantu abaningi abane-FAP yendabuko bahlinzwa ebudaleni babo bokugcina noma eminyakeni yabo engama-20.

Uma ungakulungele ukuhlinzwa noma une-FAP ebuthakathaka ngama-polyps ambalwa, udokotela wakho angakuncoma imithi efana ne-sulindac noma i-celecoxib. Le mithi ingasiza ekuthambiseni ukukhula kwama-polyps, nakuba ingakwazi ukuvimbela umdlavuza ngokuphelele futhi ayisiyona isikhombisi sokuhlinzwa ezimweni ezingozi kakhulu.

Ukulandelela njalo kubalulekile ngisho nasemuva kokwelashwa. Uzodinga ukuhlolwa okuqhubekayo kwe-colonoscopy kwanoma iyiphi ingxenye yesisu esisele, kanye nokukhomba umdlavuza kwezinye izingxenye zomzimba wakho njengesibeletho sakho, isisu, kanye nesisu esincane.

Ungayiphatha kanjani i-Familial Adenomatous Polyposis ekhaya?

Nakuba ungakwazi ukuvimbela noma ukwelapha i-FAP ngokushintsha indlela yokuphila, ukunakekela impilo yakho yonke kungakusiza uzizwe kangcono futhi kunciphisa ezinye izinkinga. Ukudla ukudla okuhlanzekile okugcwele izithelo, imifino, nama-grains aphelele kusekela impilo yakho yokugaya ukudla kanye nempilo yakho yonke.

Hlala uxhumene neqembu lakho lokunakekelwa kwezempilo futhi ugcine yonke imiqhudelwano yakho ehleliwe, ngisho nalapho uzizwa kahle. I-FAP idinga ukulandelela okuphila konke, futhi ukuhlolwa okujwayelekile yilona thuluzi lakho elihle kakhulu lokuzivikela ezinkingeni.

Cabanga ukujoyina iqembu lokusekela abantu abane-FAP noma izifo zomdlavuza ezifuywe. Ukuhlangana nabanye abantu abaqonda okuhlangenwe nakho kwakho kungakunika ukwesekwa okubalulekile ngokomzwelo nezeluleko eziwusizo.

Gcina amarekhodi aphelele omlando wakho wezokwelapha, imiphumela yokuhlola, nolwazi lwezempilo lomndeni wakho. Lolu lwazi lubaluleke kakhulu uma uthuthela noma ushintsha odokotela, futhi lungaba usizo kubantwana bakho namalungu omndeni wakho.

Unganqikazi ukubuza imibuzo noma ufuna umbono wesibili mayelana nelenkaneli yakho yokwelashwa. I-FAP iyisimo esiyinkimbinkimbi, futhi kufanele uzizwe ukhulu futhi ulwazi mayelana nezisombululo zakho zokunakekelwa.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho nodokotela?

Ngaphambi kokubhekana nodokotela wakho, buza ulwazi olungakaze lube khona mayelana nomlando wezempilo womndeni wakho, ikakhulukazi noma yikuphi ukubola komdlavuza we-colorectal, ama-polyps, noma ezinye izifo zomdlavuza. Ngisho nemininingwane mayelana nezihlobo ezafa zisebancane noma ngezizathu ezingaziwa ingasiza.

Bhala onke amazinga akho, kufaka phakathi ukuthi aqale nini, ukuthi avele kangakanani, nokuthi yini eyenza kube ngcono noma kubi. Ungakhohlwa ukukhuluma ngezimpawu ezingabonakala zingena lutho, njengeziqhumane zesikhumba noma izinkinga zamahlombe.

Lungisa uhlu lwawo wonke amayeza, amavithamini, kanye nezithasiselo ozithathayo. Futhi, bhala noma yimiphi imibuzo ofuna ukuyibuza udokotela wakho, uqale ngezona zibalulekile uma ungasapheli isikhathi.

Cabanga ukuthi ulethe ilungu lomndeni noma umngani ekubhekaneni kwakho, ikakhulu uma uxoxa ngokuhlolwa kwe-genetic noma izinketho zokwelashwa. Ukuba nomuntu omunye lapho kungakusiza ukukhumbula ulwazi olubalulekile futhi kunikeze ukwesekwa ngokomzwelo.

Uma ubona uchwepheshe okokuqala, cela udokotela wakho oyinhloko ukuthi athumele amarekhodi akho ezempilo kusengaphambili. Lokhu kusiza ukuqinisekisa ukuthi udokotela wakho omusha unawo wonke ulwazi aludingayo ukuhlinzeka ngokunakekelwa okuhle kakhulu.

Iyini into ebalulekile mayelana ne-Familial Adenomatous Polyposis?

I-FAP iyisimo esibuhlungu se-genetic, kodwa ngokunakekelwa okufanele kwezokwelapha nokuqapha, abantu abane-FAP bangaphila impilo egcwele, enempilo. Okubalulekile ukutholakala kwangaphambi kwesikhathi nokuphathwa okuqaphayo, ngokuvamile kufaka phakathi ukuhlinzwa okuvimbelayo ngaphambi kokuthi umdlavuza uqale.

Uma unomlando womndeni we-FAP noma umdlavuza we-colorectal ongaqondakali, ukwelulekwa kwe-genetic nokuhlolwa kungakusiza ukuqonda izingozi zakho nokwenza izinqumo ezinolwazi mayelana nempilo yakho. Ukungenelela kwangaphambi kwesikhathi kwenza umehluko ngempela ngalesi simo.

Khumbula ukuthi ukuba ne-FAP akuchazi wena, futhi intuthuko ekwelapheni iyaqhubeka nokuthuthukisa imiphumela yabantu abanesimo.

Imibuzo evame ukubuzwa mayelana ne-Familial Adenomatous Polyposis

U-1: Uma ngina-FAP, ingabe abantwana bami bayozuthola ngokuqinisekile?

Cha, umntwana ngamunye unethuba elingu-50% lokudlulisela i-FAP uma ubheka i-gene. Lokhu kusho ukuthi abanye abantwana bakho bangaba ne-FAP kanti abanye abangabe nayo. Ukuhlolwa kwe-genetic kungabonisa ukuthi abantwana bakho bayitholile yini le meko, ngokuvamile kuqala eminyakeni eyi-10-12.

U-2: Ngingayivimba kanjani i-FAP ngokudla noma ngokushintsha indlela yokuphila?

Ngeshwa, awukwazi ukuvimba i-FAP ngokushintsha indlela yokuphila njengoba ibangelwa ukuguqulwa kwe-genetic. Kodwa-ke, ukugcina ukudla okunempilo nendlela yokuphila kungasekele impilo yakho yonke futhi kungakusiza uphulukane kangcono nokwelashwa okunjengokuhlinzwa.

U-3: Mangikwenze kangaki i-colonoscopies uma ngina-FAP?

Ukuphindaphinda kuncike esimweni sakho esithile, kodwa abantu abaningi abane-FAP badinga i-colonoscopies unyaka ngamunye noma eminyakeni emibili, beqala ebuntwaneni babo. Ngemva kokuhlinzwa okuvimbelayo, uzoqhubeka udinga ukulandelelwa njalo kwanoma yisiphi isitho esisele sesisu, ngokuvamile unyaka ngamunye noma eminyakeni emithathu.

U-4: Ingabe ukuhlinzwa kwe-FAP kuyinkulu, futhi kuyini ukubuyela esimweni esiqondile?

Yebo, ukuhlinzwa kwe-FAP kuyinkulu, kodwa izindlela ziye zaphucuka kakhulu phakathi neminyaka. Abantu abaningi bachitha cishe isonto esibhedlela futhi badinga amasonto angu-6-8 ukuze baphile ngokugcwele. Abantu abaningi babuyela emisebenzini evamile, kufaka phakathi umsebenzi nokuzivocavoca, ngemva kokubuyela esimweni esiqondile.

U-5: Ngingaba nabantwana ngemva kokuhlinzwa kwe-FAP?

Yebo, abantu abaningi bangaba nabantwana ngemva kokuhlinzwa kwe-FAP, nakuba ezinye izinqubo zokuhlinzwa zingathinta kancane ukukhulelwa. Kubalulekile ukuxoxa ngokuhlela umndeni nodokotela wakho ngaphambi kokuhlinzwa ukuze bakwazi ukucabangela lokhu ohlelweni lwakho lokwelashwa. Abesifazane abane-FAP ngokuvamile bangaba nokukhulelwa okujwayelekile nokukhulelwa.