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E. Akin et al.
Riley–Ruvalcaba syndromes [12, 62]. While
75% of new diagnoses have a family history, 25%
have novo mutations and are sporadic [57]. In
treatment, excision of all detected polyps should
be done. In cases that cannot be controlled endoscopically, prophylactic surgery should be considered. The aim is not only to reduce the risk of
cancer but also to prevent complications such as
anemia, diarrhea, and intussusception.
19.4.3 Cowden Syndrome
It is characterized by multiple GIS hamartomas
and ganglioneuromatosis. The presence of polyps
ranging from several polyps to several hundred
can be seen. While the most common type of
polyp is hamartomatous with 29%, juvenile, ganglioneuroma, adenoma, inammatory polyp,
leiomyoma, lipoma, lymphoid polyp, and rarely
hyperplastic polyps are also detected [63]. There
are different variants such as Bannayan–Riley–
Ruvalcaba syndrome and PTEN hamartomatous
tumor syndrome (PHTS). Widespread glycogenic
acanthosis in the esophagus can be seen in PHTS
at 80%. In genetic tests, PTEN mutation is examined. PTEN (+) individuals should also be
screened for colon, upper GIS, thyroid, breast,
uterus, kidney, and skin cancers. It has been
reported that the risk of CRC is increased by 13%
in PTEN (+) individuals before the age of 50
[63]. The average age of emergence is 44–48.
19.5 Serrated Polyposis
Syndrome
Its incidence in newborns is 1/100,000. Its frequency was found to be 0.66% in a large
population- based series. Also, this rate was found
to be 0.34% in a Spanish study [64]. The lifetime
cumulative CRC risk is 50% [65]. The average
age of diagnosis is 48years. There is a 70% tendency to hold the right colon. Clinical diagnosis
can be made by:
– more than 5 polyps, at least two of which are
greater than 10mm in the proximal of the sigmoid colon,
– serrated polyp history in rst-degree
relatives,
– the presence of more than 20 serrated polyps
in different localizations in the colon.
NCCN guideline recommends starting sur-
veillance in rst-degree relatives:
– at the age of 40,
– the earliest diagnosed SPS in the family,
– 10 years before the age of the person diag-
nosed with SPS-related CRC.
According to ACG 2019 guidelines, the conditional recommendation is recommended with a
low level of evidence for SPS patients under surveillance, performing colonoscopy every
1–3 years and removing adenomas larger than
1 cm [12]. Patients who cannot be controlled
endoscopically and have high-grade dysplasia
should be evaluated for prophylactic surgery
[66].
19.6 Hereditary Mixed Polyposis
Syndrome (HMPS)
It presents with a different clinical picture in
which hyperplastic, serrated polyps, and adenocarcinoma exist together. It occurs in Ashkenazi
Jews. The average age of emergence is 28.
Differential diagnosis should be made with JPS
and SPS. Although HMPS is thought to occur
due to the localized CRAC1 gene mutation in the
15th chromosome, recently, two patients were
found to have colorectal polyp predisposition due
to localized GREM1 gene duplication in the 15th
chromosome. Prophylactic surgery is planned for
patients who cannot be managed endoscopically
in the treatment [12].
19.7 Genetic Evaluation
Predictive genetic testing of family members at
risk is possible after reliable identication of the
relevant mutation in the family. Thus, while
appropriate surveillance or prophylactic treatment can be recommended for mutation-positive
19 Prophylactic Resections forGenetic Predisposition ofColon andRectum
207
individuals, monitoring of mutation-negative
individuals can be terminated. Another benet of
genetic screening is that long-term costeffectiveness and accuracy rate are higher than
endoscopic screening. Also, genotype-phenotype
differences of syndromes can help in planning
the surgical option according to the determined
mutations. In the Dutch study, it has been reported
that patients with 3′ codon mutations in FAP
patients have a 1250-fold higher risk of rectal
cancer than those with mutations in the 5′ codon.
These patients have been reported to have a high
risk of secondary rectal cancer and rectal polyposis after total colectomy [16, 65].
The localizations in which errors are most
prominent in tumor DNA are microsatellites.
MSI detection is the gold standard for detecting
impairment of tumor DNA [47]. MSI testing is a
polymerase chain reaction (PCR) based test that
tests for allele shift in a standardized panel of
markers. If the allelic shift ratio is 30% or more,
MSI is dened as high; if the ratio is 0%, MSI is
dened as stable; and if the value is between
0%–30%, MSI is dened as low. IHC tests can be
performed on tumor tissue to detect the presence
or absence MMR proteins. In LYNCH syndrome,
if patients who have CRC accompanied by MMR
mutations in the subsequent IHC assessment, it is
recommended to be imaged by MSI analysis of
tumors. An abnormal IHC test has a 100% predictive value for MSI elevation [67–69].
Testing for hereditary colorectal syndrome in
the family may cause anxiety among relatives
[70]. Despite careful personal counseling, mutation (+) individuals tend to misunderstand the
emergence of cancer possibility. Therefore,
obtaining consent for individual counseling and
testing is essential for possible undesirable effects
of the test. It is essential to obtain consent from
parents, especially in JP, PJS, and FAP syndromes, where the test should be done before
early adulthood.
According to recent studies, different effects
of BRCA 1 and BRCA 2 mutations on CRC’s
genetic predisposition have been reported. Even
if there are studies showing that BRCA 1 and
BRCA 2 are associated with increased risk of
mucinous CRC, the risk of CRC was reported as
not increased in both mutation carriers, according
to a meta-analysis. In another meta-analysis, an
increased risk of CRC was reported in the BRCA
1 mutation [71–73].
19.8 Surgical Procedures
Phenotypic expression, penetration depths, and
differences in the development of the disease
indicate that the content and timing of the prophylactic colorectal surgical procedure should be
signicantly different. The reduction of the overall risk, the possibility of compensating for organ
loss, and the effects of surgical intervention shape
the choice of prophylactic procedures.
Surgical options are:
– Segmental colectomy.
– Proctectomy.
– Subtotal colectomy.
– Total colectomy-ileorectal anastomosis
(TC-IRA).
– Total proctocolectomy (TPC)—permanent
ileostomy.
– Restorative proctocolectomy-ileal pouch-anal
anastomosis (RPC-IPAA).
Appropriate procedure selection is made by
considering postoperative functional results, preoperative anal sphincter status, and patient’s preference. All of the techniques reduce the risk of
malignancy, improve the quality of life and can
be applied with minimal invasive or open techniques. Nowadays, it is recommended to use
minimally invasive surgical techniques, if possible, and access to the bladder and pelvic organs
can be achieved with extensive adhesiolysis by
experienced hands, even if there is previous
abdominal surgery history. Minimally invasive
techniques have advantages of decrease in inammatory mediators, improved pulmonary functions, faster return of bowel function, and reduced
hospital length of stay when compared to the
open techniques.
TC-IRA: It may be preferred in patients with low
rectal load, who has less than 1000 colorectal polyp,
and less than 20 rectal adenomas [49, 74, 75].
Indications for adding proctectomy to colectomy are:
208
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E. Akin et al.
1. more than 1000 polyps in the colon,
2. presence of more than 20 adenomas in the
rectum,
3. the size of adenomas more than 3cm,
4. severe adenomatous dysplasia,
5. villous adenoma development [76].
TPC/End ileostomy: It is rarely the rst
option. Preferred conditions are cancer that
invades the pelvic oor or sphincter, an unacceptably weak anal sphincter function, lack of performing ileal pouch technically due to desmoid
involvement or excessive shortness of the mesentery. Sometimes it can be consciously preferred
by patients who need to undergo proctectomy, on
the grounds that their intestinal habits will
increase 5–6 times a day permanently.
It should be taken into consideration that the
risk of rectal cancer increases 4–8% in 10years
and 26–32% in 25years, especially after FAP, by
leaving the rectum in situ after TC-IRA [76, 77].
Also, it is estimated that this information appears
to be higher than usual as a result of the operations performed in the case of intensive rectal disease when TP-IPAA has not become widespread
yet [78]. In recent studies, the degrees of probability for developing carcinoma are 0% in
Cleveland clinic, while it is 32% in the series of
the Mayo clinic and varies [79]. Besides, in the
series published by Heiskanen and Jarvinen, this
rate is 9%, and although the gures are different,
the risk of developing cancer increases over time
[15]. Endoscopic monitoring of the rectal segment at 6-month–1-year intervals is recommended in the postoperative period. Adenomas
smaller than 5mm can be observed or removed
with forceps. Adenomas larger than 5mm should
be excised with a snare. However, after repeated
fulguration and polypectomies, there may be a
decrease in rectal compliance and difculty in
identifying at cancers that will remain under
scar tissue [49]. It is necessary to perform terminal ileostomy or IPAA following complementary
proctectomy in a group of 20–50% patients with
progressive polyposis, intraepithelial neoplasia,
or an increased risk of early cancer [80].
Different forms of TPK-IPAA procedure, such
as minimally invasive, hand-assisted, laparoscopic-
assisted, single incision and ileal pouch construction, may be performed. Suitable indications are:
– adequate anal sphincter function,
– damage protective physiological defecation
function,
– acceptance of multiple procedures, if required,
– BMI <25 (a thick fatty mesentery will not t
comfortably in a narrow pelvis; in addition, it
may not reach the anal canal despite additional
attempts to extend the pouch mesentery).
– obtaining adequate distal margin,
– absence of an emergency clinic such as bleed-
ing, intussusception, and obstruction [81–86].
Even if the concept of using genotype-
phenotype reections is popular in FAP when
choosing between TC-IRA and RPC-IPAA, it is
recommended that surgical procedure preference
is made considering the clinical ndings due to
existing phenotypic expression differences even
within the members of the same family. The functional results of the surgeries should also be evaluated while making a choice. Some studies have
reported increased bowel movement, passive
incontinence, incidental contamination, and morbidity is associated with post-TPC-IPAA; contrarily, in some studies, it is reported that functional
results and quality of life as similar [87–89]. In a
recent record-based observational cohort study in
which the results of 925 operated patients were
examined and the frequency of choice was evaluated in a recent data-based observational cohort
study, it was observed that TC-IRA was applied as
68.2% and RPC-IPAA as 36.8% [90].
Also, desmoid tumors occurring in the postop-
erative period seem to be an important problem in
FAP patients [8]. Postoperative desmoid tumor
development is thought to decrease with the use
of laparoscopy and minimized surgical trauma
[91]. A cohort analysis performed at the Cleveland
Clinic showed that the risk of developing desmoids after IRA was less than patients who
underwent RPK, and it was stated in this study
that laparoscopy caused a lower risk of developing desmoids in the IRA group [92]. More limited abdominal trauma can cause a decrease in
the rate of desmoid tumor formation. In the view
19 Prophylactic Resections forGenetic Predisposition ofColon andRectum
209
of this information, it should be concluded that
the choice of treatment should be individualized.
For patients who can apply with the emergency clinic, total colectomy with an end ileostomy and postponed proctectomy with pouch-anal
anastomosis can be preferred while preserving
anorectum. In the case of massive hemorrhage
from the rectal stump, RPC is rarely required, but
near-total proctocolectomy can often be performed with a short rectal stump [93, 94].
Especially polyposis patients who are operated
at an early age are at low risk for anastomosis
leakage after TPC-IPAA since they are generally
healthy after TPC-IPAA; they are not immunosuppressed and have a normal intestine except
adenomas. Although a loop ileostomy means
another surgery for closure and may cause postoperative complications of its own, undiverted
IPAA carries a high risk of leakage. If necessary,
loop ileostomy should not be avoided [95].
In terms of optimal functional results and efciency of the anastomosis, J pouch is generally
preferred. With three- or four-legged congurations of the ileal reservoir, S or W pouches can
also be created, but are rarely preferred. In a
study of 94 diseases, it was shown that W pouch
has no superiority over J pouch in the long term.
19.8.1 Postoperative Period
ejaculation, and dyspareunia. If diversion stoma
is preferred, its closure may be associated with
signicant complications. According to the
results of a study of 1504 patients, morbidity is
11% and mortality is 0.06%. More than half of
the complications are related to small bowel
obstruction. Factors such as the time between primary surgery and stoma closure, closure by hand
or stapler anastomosis, and presence of distal
dysfunctional ileal pouch may engender morbidity after ileostomy closure.
Other uncommon complications include SMA
syndrome, solitary rectal ulcer, traumatic ileal ulcer
syndrome, broid polyp, mucosal prolapse due to
external compression, puborectal spasm, sacral
osteomyelitis, volvulus, and pharmaco-bezoar.
19.9 Conclusion
As our knowledge about the function of the gene
that causes hereditary colorectal polyposis syndromes increases, our targeted treatment protocols will develop. Under the current
circumstances, especially when it comes to colon
and rectum, rapid turnover in the intestinal epithelium does not give much hope for genetic
treatment. Future genetic improvements may perhaps eliminate the need for prophylactic surgery
and help prevent extra-colonic manifestations.
Patients who have undergone prophylactic surgery are relatively young, and most will gain
their preoperative bowel function gradually.
Considering the prophylactic feature of surgery
in these patients, maintaining a high quality of
life is critically substantial. According to a metaanalysis in which the results of 1002 patients are
evaluated, compared to TK-IRA, RPK was found
to be disadvantageous in terms of re-operation
requirement within 30 days, long-term adverse
side effects and pad use due to increased bowel
movements [96].
Postoperative early and late complications
include pouchitis, ileus, leak, pelvic abscess,
wound infection, urinary tract infection, anastomotic stenosis, uid-electrolyte imbalance, portal vein thrombus erectile dysfunction, retrograde
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Prophylactic Colon andRectum
Resections forBenign Pathologies
BarisMantoglu, NecattinFirat,
andFatihAltintoprak
20
20.1 Introductıon
Prophylaxis is the prevention of the disease
before it transpires, as opposed to the treatment
of the disease. Prophylactic surgery, on the other
hand, aims to prevent more complicated circumstances that may decrease the life span and quality that may occur in the future with surgical
intervention. In benign colorectal diseases, the
nature and course of the disease, the application
of surgical intervention, and patient-based evaluation are essential in the patient who will undergo
prophylactic surgery. Although there are many
benign colorectal diseases described in the literature, surgical treatment comes to the fore as therapeutic rather than prophylactic in many of them.
In some benign colorectal diseases, which are
common in the community, surgical treatment
can be considered both therapeutic and prophylactic. Surgical treatment is inevitable in the presence of certain conditions in these diseases, but
the indications and timing of prophylactic surgery are controversial and may differ in various
guidelines.
B. Mantoglu
Department of General Surgery, Sakarya University
Training and Research Hospital, Sakarya, Turkey
e-mail: barism@sakarya.edu.tr
N. Firat · F. Altintoprak (*)
Department of General Surgery, Faculty of Medicine,
Sakarya University, Sakarya, Turkey
e-mail: necattinf@sakarya.edu.tr;
altintoprak@sakarya.edu.tr
In this chapter, diseases for which prophylactic surgery could be recommended for benign
colorectal diseases are discussed.
20.2 Volvulus
The denition of volvulus in western literature
was rst described by Rokitansky as a cause of
intestinal obstruction in 1841 [1]. Volvulus, in a
part of the digestive system, denes the situation
where the intestine rotates in its mesentery axis,
partial or complete obstruction, as well as in
which the blood circulation in different degrees is
disturbed. While the colon is the most affected
area in the digestive system, the sigmoid colon is
the most affected colonic segment in colonic volvulus by 60–75% [2–5].
Colonic volvulus (CV) is the third major cause
of large bowel obstruction in the world after
colorectal cancer and complicated sigmoid diverticulitis [2, 6]. CV is a rare cause in the United
States that accounts for 5–10% of bowel obstruction [2, 7]. In contrast, at 13–42%, in regions such
as Africa, South America, Russia, Middle East,
Eastern Europe, India, and Brazil, CV emerges as
the cause of intestinal obstruction [3, 6–8].
Sigmoid volvulus mostly affects older male
adults, with an average of 70%. These patients
are often debilitated and institutionalized and are
present with chronic constipation as well as
underlying psychiatric and neurological diseases.
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2021
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B. Mantoglu et al.
In addition, the incidence of the disease has been
reported to be high in African Americans.
If any segment of the colon has a long and
loose mesentery xed to the retroperitoneum
with a narrow base, it can rotate around its mesentery. The anatomy of the mesentery is exactly
as described above in the sigmoid colon, where
the volvulus is most common. The twisting of
mesosigmoid is considered as physiologic fewer
than 180° [6]. In rotations up to 180°, leads colon
obstruction and then prompt, necrosis, and consequently, perforation may occur [2, 9].
Sigmoid volvulus (SV) is an insidious disease,
and the symptoms are non-specic. High suspicion in diagnosis is essential. A gradual progression of abdominal pain, distension, and nausea
are often encountered; moreover, vomiting may
occur days later [6, 10]. A complete blood count
and electrolytes are usually normal in patients
with sigmoid volvulus in the absence of gangrene, peritonitis, or sepsis. Radiographic imaging is essential in the workup of these patients.
Other radiologic modalities almost completely
abandoned in favor of CT scans, with the diagnosis ability in volvulus with almost 100% sensitivity and greater than 90% specicity [10–12].
20.2.1 Treatment
The treatment approaches to volvulus vary
depending on the patient’s complaints and admission time interval to the hospital. Urgent surgical
intervention is required whether the patient has
signs of perforation or peritonitis. In such cases,
although the surgical technique is determined
according to the stability of the patient, peritoneal
contamination is critical in this circumstance.
Currently, endoscopic decompression is recommended by American Society of Colon and
Rectal Surgeons (ASCRS) as the inception of
non-operative therapy in patients with sigmoid
volvulus without signs of peritoneal irritation.
Apart from detorsion, another advantage of this
intervention is to evaluate intestinal viability [13,
14]. The success rate in endoscopic detorsion of
sigmoid volvulus cases has been reported to be
52%–100% [15–19]. The major constraint of this
technique is the high recurrence rates after the
procedure, which affects 33.8% to 84% of
patients [2, 15, 18, 20, 21]. While mortality rates
of planned elective surgery performed after successful decompression are 3.3%, this rate
increases to 13% in emergency surgery [7, 14].
Therefore, patients who had recurrence after
detorsion may be candidates for urgent surgical
intervention but should be kept in mind that elective surgery chance has been lost together with
higher morbidity and mortality rates.
A study by Johansson etal. (2018) reported
their recurrence rates in SV as 22% after the rst
episode. Although they had performed elective
surgery as stated in the literature after the rst
episode of their patients, they pointed out that
some patients might have gone under unnecessary surgical intervention [14, 17, 22–24].
Besides, in Kim etal. (2020) recently published
retrospective reviews, they noted that postdetorsion sigmoid colectomy was effective in
restoring bowel continuity and preventing recurrence compared to the emergency surgical
approach [25]. The conclusions of the 10-year
retrospective research published by Bruzzi etal.
(2015) support the prophylactic surgery. In this
study, following a mean interval of 5± 2days
after successful endoscopic detorsion, elective
sigmoid colectomy was performed, while morbidity was determined as 6%, no mortality was
observed [26]. According to the ASCRS guidelines, after acute phase resolution, sigmoid colectomy is recommended to prevent recurrences.
Consequently, elective surgery is recommended
in the literature after the rst episode.
Performing elective prophylactic surgery
depends on the preference of the surgeon as well
as the patient’s acceptance of the surgery. In the
SV series of 873 patients of Atamanalp et al.
(2008), 436 patients were recommended elective
surgery, 94 of them (21.6%) accepted this intervention [22]. Although the data are unclear,
patients are generally reluctant to undergo surgical intervention. This has been described in the
studies that an acceptance rate of elective surgery
is between 22 and 50% [22, 27].
Generally, the recommended time interval to
prophylactic surgery is 2–3 days following the
20 Prophylactic Colon andRectum Resections forBenign Pathologies
215
successful detorsion, or within 60days at the longest so that the patient can be protected from
undesired outcomes that may be a result of recurrence [22, 28].
The surgical intervention options of the sigmoid volvulus are diverse. Sigmoidectomy is the
chief surgical approach to prophylactic surgery
meanwhile it can be performed by open or laparoscopic technique. Regardless of the technique,
in the sigmoid colectomy, the crux of the matter
is that the length of the sigmoid colon in which
resection must be the maximum length allowing
a tension-free anastomosis without requiring a
left colon mobilization. The optimal length of the
colon to be resected is critical, unwillingly the
surgeon may face recurrences after a planned surgery. While recurrence rates were reported
between 14% and 18.2% in patients undergoing
non-denitive surgery, recurrences were reported
as 3% despite denitive surgery in a literature
review [2, 17, 29]. In a study by Larkin etal.
(2009), the rate of recurrence after elective surgery following initial colonoscopy was reported
as 0% in all patient groups [23].
Our treatment steps in sigmoid volvulus are
towards performing prophylactic surgery in
appropriate cases after successful endoscopic
detorsion. Regrettably, the patient’s acceptance
of surgery is at a low rate, and in patients who
receive surgical intervention, our priority is to
perform the surgery laparoscopically in appropriate cases [30].
No matter which surgical method is preferred,
prophylactic surgery is necessitated for the treatment of sigmoid volvulus. The type of surgical
intervention depends on various factors such as
surgical experience and patient suitability.
Surgical timing is at least as important as the
intervention. That prolonging the interval
increases the risk of recurrence, furthermore
morbidity, and mortality.
20.3 Diverticular Disease
Diverticulosis is explained by the presence of the
diverticulum and can be asymptomatic or symptomatic. Diverticular disease of the colon is
described as clinically signicant and symptomatic diverticulosis due to diverticular hemorrhage,
diverticulitis, diverticulum-associated segmental
colitis, or symptomatic uncomplicated diverticular disease. Diverticular disease of the colon is a
leading cause of hospitalization and has signicantly increased health care costs in industrialized countries [31, 32]. In this chapter, we will
aim to focus on particularly the spot and requirement of prophylactic surgery, in terms of before
and after the diverticulitis attack, as well as the
presence of symptomatic uncomplicated diverticular disease (SUDD), and segmental colitis
associated with diverticular disease (SCAD) will
be evaluated.
The prevalence of diverticulosis is age-related
while the prevalence at age 60 is less than 20%, it
increases to 60% towards age 60 [33, 34]. The
lifetime risk of diverticulitis of an individual having diverticulosis was ranged from 10% to 25%
[35]. Considering the results based on modern
diagnostic approaches such as CT and exible
endoscopy, 5% of patients with diverticulosis
have been reported to have diverticulitis [36].
Compared with Asia, diverticular disease is
predominantly left-sided in western countries,
and right-sided diverticulitis is present in only
1.5% of cases [37].
The diverticular disease also reveals some
diversity in age and gender. In female patients,
stula arises more frequently, while in men,
bleeding is more common. Older female patients
confronted with chronic disease and stricture,
younger women present mostly with perforation.
While bleeding is at the forefront of older men,
younger men frequently present with stula [38].
Diverticulosis is closely related to intraluminal high-pressure levels, so much so that, the normal intracolonic peak contraction pressure was
measured almost 9 times higher than normal individuals, (90mm/Hg) [39]. With this rising pressure, mucosal herniation occurs through weak
spots (vasa recta brevia) in the colon wall and is
called acquired or pulsion diverticula.
Abnormal colonic motility is another important predisposing factor in the development of
diverticula. It is hypothesized that the increase in
intraluminal pressure inuences on herniation of
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