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Ileocaecal Crohn’s disease and familial adenomatous polyposis in one patient – a case report


Crohnova nemoc ileocekální oblasti a familiární adenomatózní polypóza u jednoho pa­cienta –  kazuistika

Crohnova nemoc (CD – Crohn’s dis­ease) a familiární adenomatózní polypóza (FAP – familial adenomatous polyposis) jsou sice dvě rozdílné choroby, obě ale ovlivňují gastrointestinální trakt. FAP je autozomálně dominantní vrozené onemocnění, naproti tomu etiologie CD je stále neznámá, ale předpokládá se multifaktoriální vliv (genetika, vnější prostředí, stav imunitního systému, mikrobio­m). Léčba těchto dvou onemocnění se rovněž liší. Definitivním řešením FAP je chirurgická léčba (kolektomie nebo proktokolektomie). Na druhou stranu léčba CD může být jak konzervativní, tak chirurgická. Obecně v případě střevní resekce musí být předem zváženy možnosti obnovy kontinuity gastrointestinálního traktu. Toto rozhodnutí je o to náročnější, pokud je u pa­cienta zároveň dia­gnostikována CD i FAP. Prezentujeme případ mladé ženy s FAP, u které byla nově dia­gnostikována CD s postižením terminálního ilea a známkami aktivity. Vzhledem k přítomnosti mnohočetných velkých polypů a stenóze terminálního ilea byla pa­cientka indikována k chirurgické léčbě (kolektomii s terminální ileostomií a resekci terminálního ilea). V druhé době byla kontinuita obnovena ileorektální anastomózou. V textu jsou diskutovány i další možnosti obnovení kontinuity trávicího systému u této pa­cientky (ileopouch-anální anastomóza a abdomino-perineální resekce rekta s terminální ileostomií).

Klíčová slova:

familiární adenomatózní polypóza – Crohnova choroba – obnova střevní kontinuity – kolektomie – ileorektální anastomóza – J-pouch – ileopouch-anální anastomóza

Doručeno: 4. 11. 2018

Přijato: 24. 1. 2019


Authors: Can V. 1;  Marek F. 1;  Kala Z. 1;  Poredská K. 2;  Kroupa R. 2;  Tvrdikova E. 3;  Andrasina T. 4;  Prochazka V. 1;  Kunovsky L. 1,2
Authors place of work: Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic 1;  Department of Gastroenterology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic 2;  Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic 3;  Department of Radiology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic 4
Published in the journal: Gastroent Hepatol 2019; 73(1): 46-51
Category: IBD: Case Report
doi: https://doi.org/10.14735/amgh201946

Summary

Crohn’s disease (CD) and familial adenomatous polyposis (FAP) are two different diseases that both affect the gastrointestinal tract. FAP is an autosomal dominant inherited disease; however, the aetiology of CD is still unknown and is supposed to be multifactorial (genetics, environment, immune state, microbiom). The therapy of these two diseases differs as well. The ultimate solution for FAP is surgery (colectomy or proctocolectomy). On the other hand, CD can be treated either conservatively or surgically. Generally, in cases of bowel resection, the alternative of gastrointestinal tract restoration has to be considered. This decision is more challenging in patients diagnosed with both diseases (CD and FAP). We present the case of a young female with FAP who was diagnosed with active CD in the ileocaecal region. Due to multiple large colon polyps and a stenotic terminal ileum, she was indicated for surgery (colectomy with terminal ileostomy and terminal ileum resection). Subsequently, an ileorectal anastomosis was constructed. In further text, we also discuss other bowel restoration solutions, such as ileal pouch-anal anastomosis and abdominoperineal resection with terminal ileostomy.

Key words:

familial adenomatous polyposis – Crohn’s dis­ease – bowel continuity restoration – colectomy – ileorectal anastomosis – J-pouch – ileal pouch-anal anastomosis

Introduction

Familiar adenomatous polyposis

Familiar adenomatous polyposis (FAP, also adenomatous polyposis coli – APC) is an autosomal dominant inherited dis­ease with incidence vary­­ing from 1/7 000 to 1/22 000. The cause of FAP is a mutation of the APC gene localised on the long branch of the 5th chromosome. The APC gene is a tumour suppres­sor gene responsible for transcription and translation of the APC protein and its mutation can lead to colorectal and other cancer [1].

The clas­sic form of FAP is characterised by a large number (up to thousands) of adenomatous colon polyps. The typical onset of FAP is in early adolescence. If not treated, polyps can become malignant. The colorectal cancer is then dia­gnosed approximately at the age of 39. There are only case reports of detection of malignant polyps in children with FAP [2].

The attenuated form of FAP (AFAP – attenuated familial adenomatous polyposis) is described only in 8% of families af­fected by FAP. This variation of FAP is characterised by a smal­ler number of less malignant polyps. The AFAP is therefore dia­gnosed much later than clas­sic FAP – at the age of around 55 [3].

Treatment of FAP

The management of FAP is based on identify­­ing the patients at risk (family history, genetic testing) and introduc­­ing their close monitoring. The method of choice for an early polyp detection is a colonoscopy. The removal of any polyp found is neces­sary to prevent the development of colorectal cancer [4]. Specific pharmacologic treatment of FAP is not yet available. However, several studies consider the cyclooxygenase blockers as a promis­­ing treatment of FAP [5,6].

In FAP with advanced dysplastic polyps, endoscopical­ly non-removable lesions or more than 100 polyps, the method of choice is a prophylactic colectomy [7]. This radical procedure minimises the risk of develop­­ing colorectal cancer.

Nowadays, there are no specific recom­mendations for bowel continuity restoration after colonic resections [8]. The decision for perform­­ing either colectomy with ileorectal anastomosis or proctocolectomy with ileal pouch-anal anastomosis (IPAA) should be individual­ly based with consideration of the presence of rectal polyps [9]. The proctocolectomy is usual­ly performed in patients with more than 20 rectal polyps, if the polyps are larger than 3cm or if there are malignant changes [10]. The laparoscopic approach is the method of choice as it ensures lower morbidity and faster postoperative recovery [11].

Crohn’s dis­ease

Crohn’s dis­ease (CD) is a chronic inflam­matory bowel dis­ease which may af­fect any part of the gastrointestinal tract. However, in up to 1/3 of cases the dis­ease is localised in the ileocaecal region [12].

The aetiology of CD is still unknown and therefore a causal ther­apy is not yet available. Concern­­ing the pathogenesis of CD, it is nowadays believed to be multifactorial and genetics probably play an important role in its development. The most frequently mentioned gene mutation is the NOD2/CARD15 that is significantly higher in CD patients than in the healthy population [13,14]. However, it is not the only pathognomonic gene mutation in CD development. Hence, the genetic test­­ing is cur­rently not recom­mended for routine dia­gnosis of CD [15].

Treatment of ileocaecal Crohn’s dis­ease

Patients with localised ileocaecal dis­ease can be treated either conservatively or surgical­ly mainly accord­­ing to the dis­ease activity and the presence of obstructive symp­toms due to stenosis.

In mildly or moderately active dis­ease, local or systemic corticosteroids should be considered. In severely active CD, the patients should also be initial­ly treated with systemic corticosteroids. However, for all patients who relapse (who are steroid-refractory or steroid-intolerant) an anti-tumor necrosis factor-alpha based strategy is appropriate.

Surgery is an alternative for patients with dis­ease refractory to conventional medical treatment or in patients with obstructive symp­toms but with no significant evidence of active inflam­mation. The laparoscopical­ly-as­sisted ileocaecal resection with wide-lumen stapled ileocolic side to side anastomosis is the prefer­red technique [16,17].

In patients with a concomitant abdominal absces­s, management should start with antibio­tics, percutaneous or surgical drainage, fol­lowed by delayed resection, if neces­sary [15,18,19].

Case report

We present the case of a 24-year-old female who was refer­red to our hospital by a general practitioner for a 4-week last­­ing abdominal pain, occasional­ly vomit­­ing and a palpable mass in the right iliac fos­sa. On examination she was slightly lean­­ing forward when walking, her abdomen was a little distended and the mass in the right iliac fos­sa was approximately 8 × 4cm large and painful on deep palpation. The laboratory findings were normal, includ­­ing the markers of inflam­mation and the abdominal ultrasound revealed periappendicular infiltration, advanced inflam­matory changes in the subcaecal region with a suspicion of an acute appendicitis. She was therefore admitted to our department of surgery.

Concern­­ing her past medical history, she was dia­gnosed with FAP accord­­ing to the colonoscopy and genetic results (mutation in APC gene c.2434-2437delGACA p.Asp812fsX7) a few years previously. The last colonoscopy (performed 4 months earlier in a dif­ferent hospital) showed multiple large intestinal polyps, no bio­psies were taken and the terminal ileum was not examined. In her family, her grandmother and mother were dia­gnosed with colorectal cancer and two of her siblings with FAP. She was not us­­ing any medication and stated no al­lergies.

With regards to a pos­sible dif­ferential dia­gnosis (appendicitis, CD) the CT scan was performed and showed inflam­matory changes in the ileocaecal region, stenosis of the terminal ileum, a 6cm long thicken­­ing of ileal wall and sur­round­­ing lymphadenopathy (Fig. 1a,b). With close cooperation with a gastroenterologist, a conservative approach was indicated. She was treated with antibio­tics (metronidazole) and started bowel rest by means of intravenous parenteral nutrition. To confirm the dia­gnosis of CD a colonoscopy was performed. It revealed stenosis of the ileocaecal valve that enabled only a short intubation of the terminal ileum. There were no signs of macroscopic inflam­mation either at the ileocaecal valve or the terminal ileum. However, the bio­psy from the terminal ileum showed histopathological signs of CD. As the patient repetitively showed obstructive symp­toms due to stenosis of the terminal ileum, we decided not to treat her with cortico­steroids but indicated her for ileocaecal resection.

Fig. 1. a,b. Abdominal CT scan. Affected terminal ileum marked with an arrow.
Obr. 1a,b. CT vyšetření břicha. Postižení terminálního ilea označeno šipkou.
a,b. Abdominal CT scan. Affected terminal ileum marked with an arrow.<br>
Obr. 1a,b. CT vyšetření břicha. Postižení terminálního ilea označeno šipkou.

Concern­­ing the FAP, the colonoscopy revealed multiple large colonic polyps with low-grade dysplasia adenomas on bio­psy. Particularly in the rectum, there were approximately 10 polyps up to 5mm in size.

Consequently, after a discus­sion within a multidisciplinary team (surgeons, gastroenterologists and radiologists) it was recom­mended for the patient to undergo a colectomy with a resection of the terminal ileum and construction of the neoterminal ileostomy at the same time. The procedure was performed laparoscopical­ly with no complications per- or postoperatively and the patient was soon discharged. A definitive histopathologic examination of the resected colon confirmed low-grade adenomas (Fig. 2) and the examination of the terminal ileum showed signs of CD (Fig. 3).

Fig. 2. Tubular adenoma with low-grade dysplasia, haematoxylin and eosin staining 20×. Inset right corner: features of dysplasia (enlarged, hyperchromatic, basally located nuclei, loss of mucin), haematoxylin and eosin staining 400×.
Obr. 2. Tubulární adenom s nízkým stupněm dysplazie, barvení hematoxylin-eozinem 20×. Vpravo nahoře: znaky dysplazie (zvětšená, hyperchromatická, bazálně umístěná jádra, ztráta mucinu), barvení hematoxylineozinem 400×.
Tubular adenoma with low-grade dysplasia, haematoxylin and eosin staining 20×. Inset right corner: features of
dysplasia (enlarged, hyperchromatic, basally located nuclei, loss of mucin), haematoxylin and eosin staining 400×.<br>
Obr. 2. Tubulární adenom s nízkým stupněm dysplazie, barvení hematoxylin-eozinem 20×. Vpravo nahoře: znaky dysplazie
(zvětšená, hyperchromatická, bazálně umístěná jádra, ztráta mucinu), barvení hematoxylineozinem 400×.

Fig. 3. Small intestine with Crohn’s disease – A. architectural distortion of mucosa, B. giant cells, C. ulceration, D. transmural inflammation.
Obr. 3. Tenké střevo postižené Crohnovou nemocí – A. distorze architektoniky sliznice, B. mnohojaderné buňky, C. ulcerace, D. transmurální zánět.
Small intestine with Crohn’s disease – A. architectural distortion of mucosa, B. giant cells, C. ulceration,
D. transmural inflammation.<br>
Obr. 3. Tenké střevo postižené Crohnovou nemocí – A. distorze architektoniky sliznice, B. mnohojaderné buňky, C. ulcerace,
D. transmurální zánět.

The patient has been regularly seen by a gastroenterologist and treated with azathioprine as a prophylaxis after a surgical­ly induced remis­sion of CD. As far as the bowel restoration is concerned, after 18 months the ileorectal anastomosis was performed without any complication. Regard­­ing the FAP, the remain­­ing rectal polyps were endoscopical­ly removed, and the histology confirmed low-grade adenomas. Nevertheles­s, the patient has to undergo regular endoscopies of the rectum in order to detect early rectal cancer. The last endoscopy of the rectal stump showed no polyps and the patient is cur­rently do­­ing well without any health problems.

Discus­sion

CD and FAP are both dis­eases that af­fect the gastrointestinal tract, however the treatment management of the dis­eases is dif­ferent. Concern­­ing CD, the treatment can be either conservative or surgical. As CD can af­fect the whole gastrointestinal tract, any surgery performed is always a bowel sav­­ing surgery to prevent short bowel syndrome. On the other hand, the only surgical treatment of FAP is colectomy or proctocolectomy as a prophylaxis of a malignant transformation or a cancer development.

The therapeutic dilem­ma appears if both dis­eases occur in one patient as described in our case report. Our patient was indicated for the ileocaecal resection due to CD and obstructive symp­toms and at the same time she was indicated for colectomy due to FAP and multiple large polyps. The pos­sibilities of bowel continuity restoration had to be discus­sed with the patient well in advance.

In the literature, there is a lack of patients dia­gnosed with CD and FAP and almost no recom­mendations concern­­ing the most convenient type of bowel continuity procedure in these patients [20–22]. More­over, these case reports refer to patients who were dia­gnosed with CD just after the proctocolectomy with IPAA due to FAP. In our case the patient with FAP was dia­gnosed with CD even before any surgery.

A standard procedure to con­nect the ileum and the anal stump after proctocolectomy is creat­­ing an IPAA. At our department we construct a standard J-pouch from the terminal ileum connected to the anal canal. In the last 10 years, we have performed this procedure in 5 patients with FAP and in 45 patients with ulcerative colitis (UC).

When plan­n­­ing a bowel continuity restoration in a patient with FAP and CD after colectomy with ileocaecal resection, the fol­low­­ing options have to be considered:

  1. Finish­­ing proctectomy and creat­­ing IPAA
    • a gold standard after colectomy in patients with FAP or UC;
    • disadvantage: not suitable in CD – construction of J-pouch us­­ing ileum as the most com­mon location of CD constitutes a high-risk relapse of CD. Some authors consider CD of terminal ileum as a contraindication for 
J-pouch construction [23–25].
  2. 2. Ileorectal anastomosis
    • suitable for patients with a colonic form of CD;
    • disadvantage: leav­­ing the rest of the rectum represents almost a 100% certainty of develop­­ing a rectal cancer in FAP patient in later life.
  3. Abdominoperineal resection with terminal ileostomy
    • a definitive and ultimate solution for FAP and CD patients as wel­l;
    • disadvantage: a devastat­­ing ir­re­versible procedure in a young patient without proof of malignity.

Accord­­ing to our opinion, in patients with FAP and CD, the most suitable solution for a bowel continuity restoration is to construct an ileorectal anastomosis. However, provided that the rectum is well preserved, the rectal polyps can be treated endoscopical­ly with no signs of malignancy and there are no signs of active CD. The ileorectal anastomosis preserves the patient’s anal sphincter and rectum and gives the patient a chance not to have a terminal ileostomy for the rest of the life. Moreover, the rectal stump is easy for endoscopic detection of the polyps.

On the other hand, in the case of severe findings (multiple, large polyps, malignant changes or active CD) in the rectum, the abdominoperineal resection and construction of a terminal ileostomy should be performed.

Concern­­ing the pos­sibilities of a bowel continuity restoration in our patient, a comprehensive discus­sion with the patient was performed, explain­­ing the pros and cons of all the alternatives. She final­ly decided to undergo a bowel continuity restoration with ileorectal anastomosis. However, we have to keep in mind that only a total proctocolectomy would minimise the risk of a rectal cancer development in a patient with FAP.

Conclusion

CD and FAP are two dif­ferent dis­eases af­fect­­ing the gastrointestinal tract and the course of the treatment also varies. In the literature, there are very few cases describ­­ing FAP and CD in one patient. In case of need for colectomy due to FAP and ileocaecal resection due to CD at the same time, the decision of pos­sibility bowel continuity restoration might be demanding. In our case report, we present ileorectal anastomosis as a wel­l-balanced solution for bowel continuity restoration. However, the patient needs to undergo a careful endoscopic surveil­lance in order to detect an early rectal cancer.

Supported by Ministry of Health, Czech Republic – conceptual development of research organi­sation (FNBr, 65269705).

Submitted: 4. 11. 2018

Accepted: 24. 1. 2019

Lumír Kunovský, M.D., Ph.D.

Department of Surgery

University Hospital Brno

Jihlavska 20

625 00 Brno

Czech Republic

lumir.kunovsky@gmail.com


Zdroje

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Štítky
Paediatric gastroenterology Gastroenterology and hepatology Surgery

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Gastroenterology and Hepatology

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