Ngaba kukho umntu kusapho lwakho owayenomhlaza wamathumbu amakhulu? Yiza, masithethe ngale meko yemfuza (Familial Adenomatous Polyposis - FAP)!

Ngaba kukho umntu kusapho lwakho, mhlawumbi esemncinci, oye waba nomhlaza wamathumbu amakhulu? Okanye ngaba ugqirha ukuxelele ukuba unezihluma ezincinci (iipolyps) kumathumbu amakhulu kunye neengxaki zesisu? Nokuba ukhe weva ngento enjalo okanye akunjalo, kunokuba kubaluleke kakhulu ukuba uqaphele le meko ibizwa ngokuba yi-'FAP' esiza kuthetha ngayo namhlanje. Kuba nangona ingaqhelekanga, ukuba ibonwa kwangethuba, inokukusindisa kwiingxaki ezininzi ezinkulu.

Iyintoni i-FAP ngokulula?

Ngamafutshane, iFamilial Adenomatous Polyposis, okanye i-FAP ngamafutshane, yimeko yemfuza ebangela ukuba kubekho inani elikhulu leentsholongwane ezincinci (ii-polyps) ezibizwa ngokuba zii-adenomas, ezinokuba ngumhlaza, kwikholoni yakho kwaye ngamanye amaxesha ngaphakathi kwi-rectum yakho.

Cinga nje, abanye abantu bavelisa ithumba elinye okanye amabini kumathumbu abo njengoko bekhula. Yinto eqhelekileyo leyo. Kodwa kumntu one-'FAP', badla ngokuba nangaphezu kwekhulu, ngamanye amaxesha amawaka ala mathumba, kodwa aqala ukukhula esemncinci kakhulu, mhlawumbi eneminyaka elishumi ubudala. Ke ngoko, ithuba lokuba elinye lala mathumba liguquke libe ngumhlaza ('umhlaza we-colorectal'), oko kukuthi, umngcipheko wobomi bonke, uphezulu kakhulu .

Ukulawula le ngozi, oogqirha badla ngokucebisa utyando lokususa ikholoni yonke (i-total colectomy) . Ngamanye amaxesha, i-rectum nayo iyasuswa (i-proctocolectomy). Oku kungenxa yokuba kwi-FAP, la mathumba akhula ngokukhawuleza kakhulu ukuba angalawulwa ngokuwasusa nganye nganye. Enyanisweni, ukuba olu tyando alwenziwanga, abantu abaninzi abane-FAP baya kuba nomhlaza xa bekwiminyaka ephakathi .

Abantu abane-FAP banokufumana ezinye iintlobo zeethumba, kungekuphela nje kwi-colon, kodwa nakwezinye iindawo, ezifana nolusu, izicubu ezithambileyo, amazinyo, kunye namathambo. Kwanasemva kokuba i-colon isusiwe, kunokufuneka uqhubeke nokuhlolwa ukuze ujonge ezi thumba, kwaye kunokufuneka wenze utyando lwazo.

Iyintoni ingozi yokuba nomhlaza kubantu abane-FAP?

Ukuba ayinyangwa, umntu one-FAP unethuba eliphantse libe yi-100% lokufumana umhlaza wamathumbu amakhulu. Kwakhona, umhlaza ungakhula kwangethuba kwaye usemncinci kunabanye abantu. Ukuba ilungu losapho liyaziwa ukuba linale meko, abantwana kwezo ntsapho kufuneka benze i-colonoscopy rhoqo ngonyaka ukususela kwiminyaka eli-10 ubudala .

Ukongeza kumhlaza wamathumbu amakhulu, abantu abane-FAP basengozini yokuphuhlisa ezinye iintlobo zomhlaza:

• Umhlaza wenxalenye ephezulu yamathumbu amancinci (`umhlaza we-duodenal`) - malunga ne-8%
• Umhlaza we-thyroid we-Papillary - malunga ne-2%
• Umhlaza wePancreatic - malunga ne-2%
• Umhlaza wesibindi obizwa ngokuba yi-``Hepatoblastoma``` (ingakumbi ebantwaneni) - malunga ne-1.5%
• Umhlaza wesisu - malunga ne-1%
• Iithumba zobuchopho nomqolo - ngaphantsi kwe-1%

Ngaba kukho iintlobo ezahlukeneyo ze-FAP?

Ewe, kukho uhlobo oluphambili lwe-'FAP' kunye nezinye iintlobo ezininzi ukongeza koko.

• I-FAP "yeklasikhi": Oku kubonakala ngokubakho kwee-adenomas ezingaphezu kwe-100 kumathumbu amakhulu.
• I-"Attenuated" FAP (AFAP): Olu luhlobo oluncinci kancinci. Kukho phakathi kwama-cysts angama-20 ukuya kwi-100 kumathumbu amakhulu.
• Isifo sikaGardner: Njenge-'FAP' yakudala, kukho iithumba ezingaphezu kwe-100 kumathumbu amakhulu. Ukongeza, ezinye iintlobo zeethumba zikhula kwenye indawo emzimbeni.
• I-Turcot syndrome: Ithumba elinomhlaza likhula engqondweni kunye neethumba ezininzi emathunjini.

Ixhaphake kangakanani le meko ibizwa ngokuba yi-FAP?

I-FAP yimeko engaqhelekanga kakhulu . Ichaphazela umntu omnye kwabayi-8,000. I-FAP imalunga ne-0.5% yazo zonke iintlobo zomhlaza wamathumbu amakhulu. Iintlobo ezincinci ezifana ne-AFAP, i-Gardner syndrome, kunye ne-Turcotte syndrome zinqabile nangakumbi.

Yintoni umahluko phakathi kwe-FAP kunye ne-Lynch syndrome?

I-Lynch syndrome yenye imeko yelifa eyonyusa umngcipheko wokuba nomhlaza wamathumbu amakhulu kunye neminye imiphunga. I-Lynch syndrome ikwabizwa ngokuba yi-HNPCC (i-hereditary nonpolyposis colorectal cancer syndrome). Njengoko igama lisitsho, oku akuthethi ukuba inani elikhulu leemiphunga zamathumbu amakhulu ziyakhula .

Abantu abane-Lynch syndrome banokuba nomhlaza nokuba kukho ithumba elinye okanye ngaphezulu kwikholoni. Kwakhona, iithumba kunye nomhlaza zikhula emva kwexesha elithile kune-FAP, kwaye umngcipheko uphantsi kancinci. Ezi meko zimbini zibangelwa kukutshintsha kwezakhi zofuzo ezahlukeneyo .

Zithini iimpawu ze-FAP? Siyibona njani?

Kwi-FAP, ii-polyps zamathumbu amakhulu ziqala ukwakheka kwangethuba kakhulu kunakubantu ngokubanzi, rhoqo kwiminyaka yobutsha . Ezi polyps zisenokungabangeli zimpawu de zibe nkulu ngendlela eyingozi. Kodwa ukuba une-colonoscopy, ugqirha wakho unokuzifumana.

Abantu abane-'FAP' banokuba namakhulu okanye amawaka ee-polyps kumathumbu abo . Abantu abane-'AFAP' banama-20 ubuncinane. Ngenxa yokuba ii-polyps zininzi kwaye zikhula ngokukhawuleza kwi-'FAP', banokubangela iimpawu kunee-polyps. Iimpawu ziquka:

• Ukopha emqolo
• Urhudo
• Intlungu yesisu engapheliyo

Abantu abane-FAP ngamanye amaxesha banokuba neempawu oogqirha abanokuzibona ngaphandle:

• Iidermatofibromas: Amaqhuma anjengezikhondo angaphantsi kolusu.
• Ii-Epidermal cysts: Amaqhuma angqukuva agcwele i-keratin, aphantsi kolusu.
• Ii-Osteomas: Ii-tumor ezingezizo umhlaza ezikhula emathanjeni. Zifumaneka kakhulu kumhlathi okanye ekhayeni.
• Amazinyo angaphezulu okanye amazinyo achaphazelekileyo:Ezi zinokubonwa kwi-X-ray yamazinyo.
• I-Congenital hypertrophy ye-retinal pigment epithelium (CHRPE): Ezi zinokubonwa ngexesha lovavanyo lwamehlo. Nangona kunjalo, azibangeli iingxaki zokubona.

Iimpawu ze-FAP zihlala ziqala xa zineminyaka emingaphi?

Kwi-FAP, ukukhula kwekholoni kudla ngokuqala malunga neminyaka eli-16 ubudala. Kwi-AFAP, kungaqala emva kwexeshana. Ukuba abazali bakho noogqirha bayazi ukuba usemngciphekweni weso simo, banokuqala ukukuvavanya emva kweminyaka eli-10 ubudala. Ukuba awukwenzi oko, unokufunyanwa unesi sifo ngenxa yeempawu zakho.

Yintoni eyona nto ibangela i-FAP?

Eyona nto ibangela i-FAP kukuguquka kwezakhi zofuzo . Le jini ibizwa ngokuba yi-adenomatous polyposis coli (APC) gene . Ikwabizwa ngokuba yi-tumor suppressor gene. Oku kuthetha ukuba le jini ithintela iiseli ukuba zingakhuli ngendlela engenakulawuleka kwaye zenze ii-tumor. Xa kwenzeka utshintsho lwezakhi zofuzo, umsebenzi wale jini uyaphazamiseka.

Utshintsho lwezakhi zofuzo olubangela i-FAP luguquko lwe-germline. Oku kuthetha ukuba asiyonto eyenzekayo ebomini, kodwa yinto eyenzekayo ekukhulelweni . Le yinto edluliselwa kwizizukulwana ngezizukulwana. Ukuba omnye wabazali bakho unalo olu tshintsho, unethuba elingama-50% lokulufumana njengelifa . Nangona kunjalo, malunga nama-30% ezi nguqu zintsha (iinguqu zokuqala), oko kukuthi, azizuzwa njengelifa . Ke ngoko, malunga nama-30% ezigulana ezifunyaniswe zine-FAP zisenokungabi nambali yosapho yesi sifo.

Ziziphi iingxaki ezinokubakho ze-FAP?

Eyona ngxaki ibalulekileyo ekufuneka ijongwe kwi-FAP ngumhlaza wamathumbu amakhulu . Utyando lokususa ikholoni yakho (i-colectomy) lunokunciphisa kakhulu lo mngcipheko. Nangona kunjalo, ukuhlala ngaphandle kwekholoni kunokuba nemiphumo ethile ebomini bakho kuba indlela ophuma ngayo esitulweni iyatshintsha. Kusenokufuneka usebenzise isikhwama se-ileostomy okanye isikhwama se-ileal endaweni yekholoni elikhulu.

Ngenxa yokuba utshintsho lwezakhi zofuzo olubangela i-FAP lukho kuyo yonke iseli emzimbeni wakho, iithumba zinokukhula naphi na emzimbeni wakho . Ezinye iithumba zinokukhula ngaphandle kwekholoni, kwaye ngamanye amaxesha zinokuba ngumhlaza. Ugqirha wakho unokucebisa ishedyuli yokuhlolwa ukuze ujonge ezi ntlobo zeethumba:

• Iipolyps zeDuodenal/periampullary:Ezi zikhula kwinxalenye ephezulu yamathumbu akho amancinci (i-duodenum), okanye apho i-bile duct okanye i-pancreatic duct idibana khona namathumbu amancinci. Phantse wonke umntu one-FAP uba nazo ezi zinto. Inani elincinci labantu linokuba nomhlaza we-duodenal, umhlaza we-ampullary, umhlaza we-pancreatic kwi-duct, okanye umhlaza we-bile duct.
• Iipolyps zesisu: Malunga nama-90% abantu abane-FAP baba neepolyps zesisu, kodwa yi-1% kuphela yaba bakhula babe ngumhlaza.
• Ii-Desmoid tumors: Ezi zii-tumors ezingezizo umhlaza ezikhula kwizicubu ezidityanisiweyo. Ziyenzeka kubantu abamalunga ne-15% abane-FAP. Nangona zingengomhlaza, ngamanye amaxesha zinokubangela iingxaki zempilo ezinzulu kwanokufa. Zinokuba nolaka kakhulu, zisasazeke kwizakhiwo ezikufutshane, kwaye zicinezele okanye zivale imithambo yegazi, amalungu omzimba, kunye nemithambo-luvo. Kunzima ukuzisusa kwaye zinokuphinda zibuye.
• Umhlaza we-thyroid we-Papillary: Olu hlobo lomhlaza we-thyroid lwenzeka kubantu abamalunga ne-2% abane-FAP. Awunabungozi kangako kwaye uhlala unyangeka.
• Umhlaza wesibindi: Abantwana abane-FAP, ingakumbi, banomngcipheko omncinci wokuba nomhlaza wesibindi ongaqhelekanga obizwa ngokuba yi-hepatoblastoma.
• I-Medulloblastoma: Lo ngumhlaza wobuchopho. Inokwenzeka kwi-Turcot syndrome, enxulunyaniswa ne-FAP. Nokuba ikwi-FAP, ayiqhelekanga kakhulu.
• Iipolyps zesisu: Ukuba awususwanga i-rectum yakho kunye ne-colon yakho, usengozini yokufumana iipolyps zesisu, ngoko kuya kufuneka wenze uvavanyo lwe-proctoscopy ubomi bakho bonke.

Ungazi njani ngokuqinisekileyo ukuba une-FAP?

Ukuba ufuna ukwazi ukuba ufumene i-APC gene mutation, ungayifumana ngokwenza uvavanyo lwe-genetic . Uvavanyo lwe-genetic luthatha isampuli ye-DNA yakho (njengegazi okanye amathe) kwaye lukhangele utshintsho oluthile lwe-gene. Ukuba unayo i-mutation, inyathelo elilandelayo kukwenza i-colonoscopy ukujonga i-adenomas.

I-FAP ifunyaniswa xa kukho ubuncinane ii-polyps ezili-100 (ezingama-20 ukuba yi-AFAP) kunye nokuba khona kwe-APC gene mutation . I-FAP ayisiyo yodwa imeko yelifa ebangela ii-polyps ze-adenomatous. I-MUTYH-associated polyposis yimeko efanayo, kodwa ibangelwa kukuguquka kwi-gene eyahlukileyo ebizwa ngokuba yi-MUTYH.

Ithini isicwangciso sonyango somntu one-FAP?

Isicwangciso sonyango lwe-FAP siquka ukubekwa esweni ubomi bonke kunye notyando oluyimfuneko.Kwinqanaba lokuqala, ukuba unenani elincinci lee-polyps (okanye i-AFAP), ugqirha wakho unokuzisusa nganye nganye ngexesha le-colonoscopy (i-polypectomy). Xa ii-polyps zisiba zikhulu kakhulu okanye zibe ngumhlaza, utyando lunokufuneka.

Utyando

Uninzi lwabantu abane-FAP yakudala kuya kufuneka benze i-colectomy epheleleyo xa bekwiminyaka yabo yamashumi amabini okanye ekuqaleni kweminyaka engamashumi amathathu . Ugqirha wakho uya kugqiba ukuba uza kwenza nini utyando lwakho ngokusekelwe kwizinto ezithile ezikubangela umngcipheko. Uya kuthetha nawe ngeentlobo ezahlukeneyo ze-colectomy onokuba nazo.

Xa ikholoni yakho isusiwe, kwakheka umsantsa phakathi kwamathumbu akho amancinci kunye ne-rectum (okanye i-anus). Ngamanye amaxesha, ugqirha wotyando angadibanisa ezi ziphelo zimbini. Emva koko ungenza intshukumo yokuhambisa isisu nge-rectum yakho njengesiqhelo. Ukuba oko akunakwenzeka, baya kudala 'i-ostomy', eyindawo entsha esiswini sakho apho indle yakho iphuma khona.

Uvavanyo

Iqela lakho lezonyango liza kukunika iingcebiso malunga nokuba kufuneka wenze uvavanyo lokuhlola iintlobo ezahlukeneyo zeethumba kangaphi, ngokusekelwe kwizinto ezikubangela umngcipheko. Kwi-FAP yakudala, ii-colonoscopies ziyacetyiswa rhoqo ngonyaka ukususela kwiminyaka eli-10 ukuya kwi-colectomy . Kwi-AFAP, uvavanyo kufuneka luqale minyaka le, nokuba uneminyaka engama-20 ubudala.

Emva kotyando lwakho lwe-colectomy, kufuneka uqhubeke novavanyo lwe-sigmoidoscopy, oluhlola inxalenye esezantsi yenkqubo yakho yokugaya ukutya (i-GI - indlela yokugaya ukutya). Ukuba unenxalenye ye-rectum yakho eseleyo, kufuneka ihlolwe ubuncinci rhoqo emva kweenyanga ezi-6 ukuya kwezi-12. Ukuba i-rectum yakho isusiwe yaza yatshintshwa nge-ileal pouch, kufuneka ihlolwe ubuncinci rhoqo emva kweminyaka eli-1 ukuya kwengama-4.

Ezinye iimvavanyo ezicwangcisiweyo zingabandakanya:

• I-endoscopy ephezulu: Oku kufana ne-colonoscopy, kodwa kwenziwa kwinxalenye ephezulu yenkqubo yakho yokugaya ukutya. I-endoscope idluliselwa emphinjeni wakho iye esiswini sakho nakwinxalenye ephezulu yamathumbu akho amancinci (i-duodenum) ukujonga ii-polyps. Ukuba zikhona, ugqirha wakho unokuzisusa ngaxeshanye nenkqubo.
• Uvavanyo lwe-ultrasound lomhlaza we-thyroid okanye wesibindi.
• Uvavanyo lwe-CT scan (i-computed tomography scan) okanye i-MRI (magnetic resonance imaging) lwe-desmoid tumors.

Ngaba i-FAP ingathintelwa?

Ucebisi ngezofuzo ukuze uqonde umngcipheko wokudlulisela imeko ye-FAP kubantwana bakhoKunganceda. Ukuthetha ngezi ngozi kunokukunceda ucwangcise usapho lwakho. Ngokwesiqhelo, akunakwenzeka ukuthintela utshintsho lwemfuza ekukhulelweni, kodwa kukho iindlela ezahlukeneyo zokucwangcisa usapho onokuziqwalasela.

Ingakanani iminyaka yobomi bomntu one-FAP?

Ukuba ayinyangwa, umyinge wobomi obulindelekileyo umalunga neminyaka engama-42 . Nangona kunjalo, ngonyango olufanelekileyo kunye nonyango, ungaphila ubomi obuqhelekileyo . Emva kokuba ikholoni yakho isusiwe, umngcipheko wakho omkhulu uvela kwezinye iintlobo zomhlaza zenkqubo yokugaya ukutya kunye nee-tumor ezinengxaki 'ezingalawulekiyo'. Ezi azixhaphakanga kakhulu kunomhlaza wekholoni.

Ukuba ndinayo le meko, ndimele ndilindele ntoni?

Ukuba ufunyaniswe une-FAP, ungalindela ukuba ube novavanyo lwezonyango ubomi bakho bonke kwaye mhlawumbi utyando oluninzi lokususa iithumba . Iithumba ezikhula ngaphandle kwekholoni yakho azinakwenzeka ukuba zibe ngumhlaza kunee-polyps kwikholoni yakho. Nangona iithumba ezibuthathaka zingengomhlaza, ngamanye amaxesha zinokuba yingxaki encinci okanye ingxaki enkulu.

Ungalindela ukuba wenze i-colectomy epheleleyo kwasebuntwaneni bakho . Emva koko, amathumbu akho anokuphinda adibane, okanye unokuba ne-ileal pouch okanye i-ostomy. Zonke ezi ndlela zinomngcipheko weengxaki ezithile. Nangona kunjalo, usenokuphila ubomi obude nobunempilo emva kwe-colectomy.

Kuqhelekile ukuba uzive ulusizi kwaye uxhalabile xa ufumanisa ukuba unesifo semfuza esifuna unyango oluhlala ixesha elide. Nangona kunjalo, wakuba uyazi, ungathatha amanyathelo okulawula umngcipheko wakho womhlaza . Nangona utyando lusezandleni zakho, oogqirha baya kuzama ukwenza kube lula kangangoko kunokwenzeka.

Abantu abaninzi banokwenza inkqubo ye-laparoscopic yokususa ikholoni, eyenziwa ngokusikwa okuncinci kwaye iphole ngokukhawuleza . Abantu abanesikhwama se-ileal basenokufuneka benze utyando oluninzi, kodwa ekugqibeleni baya kukwazi ukusebenzisa indlu yangasese njengangaphambili.

Izinto ezibalulekileyo ekufuneka sizikhumbule kwizinto esizithethileyo (Umyalezo Wokubuyela Ekhaya)

Kulungile, ngoko ke, ngokwento esithethe ngayo nge-'FAP', nazi izinto ezibalulekileyo ekufuneka uzikhumbule:

• I-FAP yimeko yemfuza enokudluliselwa kwizizukulwana ngezizukulwana.
• Oku kubangela ukuba kuvele amakhulu okanye amawaka ee-polyps kumathumbu amakhulu, ezinokuba ngumhlaza.
• Ukuba ayinyangwa, umngcipheko wokuba nomhlaza wamathumbu uphezulu kakhulu .
• Kubaluleke kakhulu ukuqala ukwenza uvavanyo lwe-colonoscopy usemncinci (iminyaka eli-10-12 ubudala) .
• Unyango oluphambili lutyando lokususa ikholoni (i-colectomy) .
• Kwanasemva kokuba ikholoni isusiwe, kufuneka kuhlolwe ubomi bonke ukuze kuhlolwe ukuba akukho zithumba zikhula kwenye indawo emzimbeni.
• Nangona le yimeko yobomi bonke ekufuneka ilawulwe, ngonyango olufanelekileyo novavanyo, kunokwenzeka ukuba uphile ubomi obuqhelekileyo nobusempilweni .

Ukuba wena okanye umntu kusapho lwakho unezinye zezi mpawu, okanye ukuba ufuna ukwazi okungakumbi ngale nto, ngokuqinisekileyo funa ingcebiso kagqirha . Ukwazi kwangethuba kunye nokuthatha amanyathelo kwangethuba zezona zinto zibalulekileyo.

I- FAP, iiFamilial Adenomatous Polyposis, Izifo zeGenetic, iiColon Polyps, umhlaza weColon, i-APC Gene, iColonoscopy, iColectomy, utyando