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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_927_Библиотеки_им_академика_М_И_Перельмана.pdf
ANAL AND PERIANAL REGION 71
Squamous cell cancer
Medically able to receive RT, 5-FU,
MTC (RT only for basal cell cancer)
Margins
negative
Observe
Observe
Margins
negative
Extrapelvic Metastases
e most common sites of anal cancer metastasis outside of the
pelvis are the liver, lung, and extrapelvic lymph nodes. Because
anal carcinoma is rare and only 10% to 20% of patients with anal
carcinoma present with extrapelvic metastatic disease, data regarding management are sparse. Metastases are oen accompanied by
local-regional failure. Some evidence indicates that chemotherapy
with a uoropyrimidine-based regimen plus cisplatin has some
benet in patients with metastatic anal carcinoma. Focal symptoms
oen may be palliated by radiation alone or by radiation combined
with cytotoxic drugs. Enrollment in a clinical trial is another option.
Isolated extrapelvic spread is very uncommon, and there are only a
small number of anecdotal reports of potentially curative resection
of hepatic or pulmonary metastases. Although the outcome of anal
cancer has shown marked improvement during the past few decades,
for patients with extrapelvic metastases, the prognosis continues to
be dismal, and 2-year survival rates continue to be as low as 10%.
PERIANAL SQUAMOUS CELL CARCINOMA
e perianal region is dened as the skin within a 5-cm radius of
the anal verge, and lymphatic drainage is principally to the inguinal
nodes. e most common cancers in this region are squamous cell
carcinomas that are usually well or moderately well dierentiated.
Patients most typically present between 65 to 75 years of age with
equal incidence in both genders; however, patients may present early.
e presenting features are usually nonspecic and include pain,
itching, burning, bleeding, a palpable lump, and discharge. Upon
examination, a typical ulcerated lesion with rolled and everted edges
is noted. A palpable base of the ulcerative lesion may be found within
the subcutaneous tissues. e condition is oen misdiagnosed and
thought to be a common benign lesion such as an anal ssure, stula,
eczema, or hemorrhoids; therefore, a high degree of suspicion and a
biopsy are recommended for any persistent anal margin lesion that
does not respond to conservative therapy. Biopsy results reveal that
most of these lesions are well or moderately dierentiated keratinizing SCC. Staging and imaging recommendations are the same as
those for SCC of the anal canal. Local excision is recommended for
favorable lesions. Favorable lesions include well-dierentiated T1
(<2 cm) or T2 tumors for which a minimal negative margin of 1 cm
can be obtained without compromising the anal sphincter. For these
tumors, wide local excision has been reported as adequate treatment
(analogous to resection of cutaneous SCC of other regions of the
body) because it preserves continence and achieves adequate local
control. ese tumors constitute about 60% of all cases. If the margins
are positive or close aer local excision, radiotherapy can be administered with good results. For more extensive lesions, combined modality treatment programs similar to those used for anal canal cancers
are used. A randomized trial conducted in the United Kingdom
included patients with cancers of both the anal canal and perianal
regions. e results of that trial favor treatment by radiation, 5-FU,
and MTC rather than radiation alone. Inguinal nodes should always
be part of the irradiation eld for unfavorable tumors because of the
risk of metastasis. Prophylactic inguinal irradiation is well tolerated,
and omission of groin irradiation can lead to regional or distal recurrence. For tumor that persists aer chemotherapy/radiation or when
disease locally recurs and is not amenable to excision, salvage APR
provides a viable option, with a salvage rate of about 50%. A decision
pathway for perianal cancer is summarized in Fig. 15-2.
ANAL CANCER AND HIV INFECTION
Patients with HIV/acquired immunodeciency syndrome
(AIDS) have been reported to be at increased risk for anal carcinoma. Patients infected with HIV/AIDS who have a CD4 count
of greater than 200 mm
3
usually tolerate radiation and cytotoxic
Adenocarcinoma
Basal cell carcinoma
Local excision with preservation
of anorectal function
Feasible
Local excision
Margins
positive
Feasible Not
FIGURE 15-2 Treatment algorithm for perianal cancer. 5-FU, 5-Fluorouracil; MTC, mitomycin C; RT, radia-
tion therapy.
Re-excise
feasible
Margins
positive
Not feasible
Follow anal canal
cancer algorithm
from this point
AnAl CArCinomA72
chemotherapy. Patients with active HIV/AIDS-related complications or a history of complications (e.g., malignancies, opportunistic infections) may experience severe reactions in normal tissues at
unexpectedly low radiation doses and may require dosage adjustment. It is unclear whether increased compliance with highly active
antiretroviral therapy is associated with better outcomes aer chemotherapy/radiotherapy for anal carcinoma. However, it is has
been our practice to attempt to increase CD4 counts to greater than
200 mm
3
and decrease viral loads prior to initiation of therapy if at
all possible.
S u g g e S t e d R e a d i n g
Ajani JA, Carrasco CH, Jackson DE, Wallace S. Combination of cisplatin plus
uoropyrimidine chemotherapy eective against liver metastases from
carcinoma of the anal canal. Am J Med. 1989;87(2):221–224.
Clark MA, Hartley A, Geh JI. Cancer of the anal canal. Lancet Oncol.
2004;5(3):149–157.
Cummings BJ. Metastatic anal cancer: the search for cure. Onkologie. 2006;
29(1-2):5–6.
Edge S, Byrd DR, Compton CC, etal. eds. AJCC Cancer Staging Manual. 7th
ed. New York: Springer; 2010.
Faivre C, Rougier P, Ducreux M, etal. 5-Fluorouracil and cisplatinum com-
bination chemotherapy for metastatic squamous-cell anal cancer. Bull
Cancer. 1999;86(10):861–865.
Flam M, John M, Pajak TF, etal. Role of mitomycin in combination with
uorouracil and radiotherapy, and of salvage chemoradiation in the
denitive nonsurgical treatment of epidermoid carcinoma of the anal
canal: results of a phase III randomized intergroup study. J Clin Oncol.
1996;14(9):2527–2539.
Fraunholz I, Weiss C, Eberlein K, etal. Concurrent chemoradiotherapy with
5-uorouracil and mitomycin C for invasive anal carcinoma in human immunodeciency virus-positive patients receiving highly active antiretroviral therapy. Int J Radiat Oncol Biol Physics. 2010;76(5):1425–1432.
Frisch M. On the etiology of anal squamous carcinoma. Danish Med Bull.
2002;49(3):194–209.
Frisch M, Biggar RJ, Goedert JJ. Human papillomavirus-associated can-
cers in patients with human immunodeciency virus infection and acquired immunodeciency syndrome. J Natl Cancer Inst. 2000;92(18):
1500–1510.
Glynne-Jones R, Northover JM, Cervantes A, ESMO Guidelines Working
Group. Anal cancer: ESMO clinical practice guidelines for diagnosis,
treatment and follow-up. Ann Oncol. 2010;21(suppl 5):v87–v92.
Homan R, Welton ML, Klencke B, Weinberg V, Krieg R. e signicance
of pretreatment CD4 count on the outcome and treatment tolerance of
HIV-positive patients with anal cancer. Int J Radiat Oncol Biol Physics.
1999;44(1):127–131.
Jaiyesimi IA, Pazdur R. Cisplatin and 5-uorouracil as salvage therapy for re-
current metastatic squamous cell carcinoma of the anal canal. Am J Clin
Oncol. 1993;16(6):536–540.
Johnson LG, Madeleine MM, Newcomer LM, etal. Anal cancer incidence and
survival: the surveillance, epidemiology, and end results experience, 1973-
2000. Cancer. 2004;101(2):281–288.
Klencke BJ, Palefsky JM. Anal cancer: an HIV-associated cancer. Hematol On
col Clin North Am. 2003;17(3):859–872.
Lefevre JH, Parc Y, Kerneis S, etal. Abdomino-perineal resection for anal cancer:
impact of a vertical rectus abdominis myocutaneous ap on survival, recurrence, morbidity, and wound healing. Ann Surg. 2009;250(5):707–711.
Leonard D, Beddy D, Dozois EJ. Neoplasms of anal canal and perianal skin.
Clin Colon Rectal Surg. 2011;24(1):54–63.
Martin FT, Kavanagh D, Waldron R. Squamous cell carcinoma of the anal
canal. Surgeon. 2009;7(4):232–237.
Melbye M, Rabkin C, Frisch M, Biggar RJ. Changing patterns of anal
cancer incidence in the United States, 1940-1989. Am J Epidemiol.
1994;139(8):772–780.
Mullen JT, Rodriguez-Bigas MA, Chang GJ, etal. Results of surgical salvage
aer failed chemoradiation therapy for epidermoid carcinoma of the anal
canal. Ann Surg Oncol. 2007;14(2):478–483.
Nigro ND, Vaitkevicius VK, Considine B Jr. Combined therapy for can-
cer of the anal canal: a preliminary report. 1974. Dis Colon Rectum.
1993;36(7):709–711.
Nisar PJ, Scott HJ. Myocutaneous ap reconstruction of the pelvis aer ab-
dominoperineal excision. Colorect Dis. 2009;11(8):806–816.
Ryan DP, Compton CC, Mayer RJ. Carcinoma of the anal canal. N Engl J Med.
2000;342(11):792–800.
Schotteneld D. Anal cancer. In: Frisch M, Melbye M, eds. Cancer Epidemiol-
ogy and Prevention. Oxford: Oxford University Press; 2006.
Uronis HE, Bendell JC. Anal cancer: an overview. Oncologist. 2007;12(5):524–534.
Zampino MG, Magni E, Leonardi MC, etal. Concurrent cisplatin, continuous
infusion uorouracil and radiotherapy followed by tailored consolidation
treatment in non metastatic anal squamous cell carcinoma. BMC Cancer.
2011;11:55.
-
P P
Joseph R. Notaro and Kirsten Bass Wilkins
atients with anorectal and pelvic pain oen present to the
colorectal surgeon with debilitating symptoms. It is estimated
P
that such symptoms aect as many as 6.6% of the population, but
only a third of these patients will seek medical care. Although a
diagnosis can usually be made, it is oen dicult to completely
relieve the patient’s symptoms. Most patients with anorectal pain
have organic disease such as hemorrhoids, a ssure, a stula, or
an abscess, or they have postoperative anorectal pain. Treating
the underlying cause resolves the pain. is chapter specically
addresses the less common and less treatable causes of anorectal
and pelvic pain, such as chronic proctalgia, proctalgia fugax, and
coccygodynia.
Although these three syndromes are frequently clustered
together, only chronic proctalgia and proctalgia fugax are considered functional, in that an organic cause of anorectal pain is not
identiable. e Rome III criteria are helpful in dierentiating
chronic proctalgia from proctalgia fugax. ese criteria separate
chronic proctalgia into levator syndrome and unspecied anorectal pain syndrome depending on ndings of a digital rectal
examination.
A GENERAL APPROACH
In patients with anal, rectal, or pelvic pain, an anorectal inspection, digital rectal examination, anoscopy, rigid sigmoidoscopy,
and/or flexible sigmoidoscopy help rule out treatable conditions
such as an anal fissure, an anal fistula, hemorrhoidal disease,
inflammatory bowel disease, malignancy, and radiation proctitis. In some circumstances, imaging studies such as plain pelvic
radiographs, a computed tomography (CT) scan, pelvic magnetic
resonance imaging (MRI), dynamic pelvic MRI defecography, and
endoanal ultrasound may be useful. Treatment strategies depend
on the diagnosis but are aimed at relieving the patient’s anxiety
and pain. First and foremost, patients must be reassured that their
symptoms are genuine and part of a well-recognized condition.
Then they are reassured that a serious organic problem does not
exist. A number of pain-relieving treatments may be suggested,
such as warm baths, muscle relaxants, nonsteroidal antiinflammatory drugs (NSAIDs), calcium channel blockers, pelvic massage,
electrogalvanic stimulation, local anesthetic/steroid injections,
botulinum toxin A (Botox) injections, and biofeedback. Psychological evaluation and treatment also may prove beneficial. Sacral
nerve stimulation, which is currently approved by the FDA for the
treatment of fecal incontinence, may play a role in some patients.
Unfortunately, much of the data regarding treatment strategies are
based on case series or small randomized trials. Furthermore, permanent relief or “cure” of these functional problems is frequently
not attainable, which can be frustrating for the patient and surgeon alike. Refractory cases are best managed by pain management specialists and/or psychiatrists.
CHRONIC PROCTALGIA
According to the Rome III criteria, three criteria must be met for a
diagnosis of chronic proctalgia: the patient must experience chronic
or recurrent anorectal pain, the pain must last longer than 20 minutes, and organic causes of the pain (e.g., coccygodynia [described in
a subsequent section]) must be excluded. Levator syndrome is dierentiated from unspecied anorectal pain syndrome by the presence
of levator tenderness upon digital rectal examination.
LEVATOR ANI SYNDROME
Levator syndrome is more common in women than in men and is
most commonly diagnosed in patients aged between 30 and 60 years.
e pain is a dull, aching, pressure sensation that typically is more
frequent and gets progressively worse throughout the day. Patients
may describe feeling the need to defecate or the feeling that they
are sitting on a ball. Pain also may radiate to other areas such as
the lower back, vagina, thighs, and perineum. Exacerbating factors
include sitting and defecation. Irritable bowel syndrome and pelvic
oor dysfunction are present in a majority of the patients. Because of
this association, investigation with a defecography or dynamic pelvic
MRI may be useful. Nearly a third of the patients have psychological
illnesses such as anxiety and depression. Upon digital rectal examination, tenderness is more common upon palpation of the le levator
ani muscle.
Diagnosis
e cause of levator syndrome is unknown; common theories include
spasm of the pelvic oor, inammation of the levator, or tendinitis of
the arcus tendon. Although there is no denitive proof of these theories, treatment strategies are aimed at these possibilities. A majority
of cases of levator syndrome are idiopathic, but in a subset of patients,
levator spasms are triggered by local trauma such as pelvic surgery,
anorectal surgery, and rigid proctoscopy. Of course, anal ssures,
anorectal sepsis, pelvic tumors, and prostatitis also may cause secondary levator spasm. ese are not considered functional because
an organic cause of the symptoms is identiable.
Treatment
First, patients should be reassured that there is no malignancy or
organic cause for their symptoms but that there is a recognized reason
for the pain. Whereas most patients nd this information comforting,
some may feel “disappointed” that there is no easy surgical or medical
remedy. Simple maneuvers that should be utilized by most patients
include warm baths, NSAIDs, and muscle relaxants (e.g., diazepam,
73
Pelvic Pain74
5 mg twice a day to three times a day). In patients with underlying
psychiatric conditions, antidepressants or anxiolytics may be helpful.
Levator massage and electrogalvanic stimulation (EGS) also may
be benecial. ese techniques are used in conjunction with the
aforementioned measures. Levator massage is carried out by means
of a digital rectal examination, with rm massage of the levator
muscles in an attempt to relax the spasm. To be eective, this massage should be performed with the use of some form of anesthetic.
Although digital massage is benecial in the short term, the benets
seem to diminish with time. EGS is also used to treat muscle spasticity. An anal probe is used to deliver low-frequency oscillating current
to the pelvic oor muscles. is treatment induces muscle fasciculation and prolonged fatigue, which breaks the cycle of spasm. Again,
short-term success is more common than long-term symptom relief.
Botox injection into the levator muscles has been associated with
relief of pain in case reports, but a randomized controlled trial in 12
patients revealed no dierence between persons who received Botox
injections and those who received saline solution injections. Injection of trigger points with a local anesthetic and triamcinolone has
also been used with varying success. Sacral nerve stimulation is not
currently approved by the FDA for use in pelvic pain syndromes, but
a few studies have shown promise.
Major limitations to assessing the literature include variable selection criteria, the lack of a clear denition of outcomes, variable follow-up, and few randomized trials. e randomized trials that have
been reported are limited by small sample sizes, inappropriate control
groups, and bias as a result of crossover of treatment arms. Chiaroni
etal performed a prospective randomized controlled trial to compare
the eectiveness of biofeedback, EGS, and levator massage in conjunction with psychological counseling. In patients with levator ani tenderness upon examination, adequate pain relief was achieved in 87% with
biofeedback, in 45% with EGS, and in 22% with levator massage. An
overall decrease in pain days per month and decreased pain intensities were observed that were maintained for 12 months. In addition,
patients with adequate pain relief were able to relax the pelvic oor
muscles and evacuate a water-lled balloon regardless of the treatment
used, supporting the association of pelvic oor dyssynergia and levator
syndrome. Patients without reproducible pain on a rectal examination
experienced no benet from any of the aforementioned treatments.
We have reviewed our experience with patients with levator syndrome. In the 12-year period from 2002 to 2013, 863 patients had 1574
encounters. Patient ages ranged from 25 to 85 years, with an average of
56 years. Sixty percent of the patients were women. Of the 863 patients
diagnosed with levator syndrome, 3.3% (n = 29) underwent some form
of procedure (Botox or a steroid/analgesic injection). Of the 29 surgical patients, two thirds were men (n = 19) and one third were women
(n = 10). Twenty-one patients (14 male and 7 female) underwent
Botox injections either via CT guidance or directly in the operating
room (one to ve times; 60 to 200 units total per injection). Eight of
the 21 patients received only one Botox injection, whereas 10 received
a second injection, 2 received a third injection, and 1 patient received
5 injections. Two patients also had a trial of steroid injections. Ten
patients who received Botox injections (48%) reported initial improvement, whereas 11 (52%) had no improvement at 2-month follow-up. In
addition to continuing medical management, all initial responders and
three nonresponders received additional Botox injections. All patients
experienced recurrence of symptoms within the 12-month follow-up.
Ten patients (seven male and three female) underwent triamcinolone
(Kenalog)/local anesthetic injections into the aected levator tendon
in the operating room (one to six times; 20 to 120 mg Kenalog total).
Six of these patients had more than one injection. Fiy percent had
initial improvement at 6-week follow-up. Four of those patients (80%)
continued with medical management and received no further injections. e ve nonresponders, and one initial responder received additional steroid injections. Despite this additional treatment, all but one
patient experienced some recurrence within a year. is single patient
has been symptom-free for more than 3 years. No complications were
reported for either the Botox or steroid injections.
PROCTALGIA FUGAX
e Rome III criteria for proctalgia fugax are straightforward. Patients
experience recurrent, episodic rectal pain that lasts from seconds to
minutes and have no anorectal pain in between episodes. Patients do
not have reproducible pain upon a digital rectal examination. Traditionally, proctalgia fugax was thought to occur only at night and mostly
in men; however, more recent studies have shown a higher incidence
in women. Although the episodes can awaken patients from sleep,
diurnal episodes are also common. e pain is typically described as a
shooting pain that is of sudden onset with stabbing or spasmlike features. e pain does not tend to radiate, and usually patients have no
other symptoms. e pain tends to stop spontaneously, and the mean
duration of pain is 15 minutes. It is hypothesized that nearly 18% of
the population may experience these episodes, but most never seek
medical advice for the problem because of its eeting nature.
e cause of proctalgia may be related to anal sphincter spasm or
high levels of nervous tension in the muscles of the pelvic outlet. In one
recent study, patients with proctalgia fugax had higher internal anal
sphincter thickness and resting pressures when compared with persons who had chronic proctalgia. A familial form of proctalgia fugax
has been described that is inherited in an autosomal dominant manner.
ese patients have pathologic thickening of the internal anal sphincter, increased resting pressures on manometry, and associated constipation. Internal anal sphincter strip myomectomy has been associated
with improvement in constipation but does not provide pain relief.
Because the pain is eeting, in most instances no particular treatment is needed beyond diagnosing the problem and reassuring the
patient. However, if the pain is severe, several treatments may be
benecial, such as warm baths, topical calcium channel blockers, and
inhaled salbutamol. Botox injection has been reported to be benecial in a small case series. Despite the eeting and unpredictable
nature of proctalgia fugax, medical management with antidepressants and anxiolytics still may play a role.
COCCYGODYNIA
Coccygodynia refers to pain in the region of the coccyx. e pain is
typically triggered by sitting but sometimes may be exacerbated by
arising from a seated position. It is more common in women, and the
mean age of onset is 40 years. Coccygodynia may be associated with
trauma, arthritis, or a dicult vaginal delivery. In accordance with
the Rome III criteria, it is considered an organic cause of pelvic pain.
Obesity is a common risk factor. Psychological testing results tend to
be normal in these patients.
Upon physical examination, pain may be felt at the tip of the
coccyx, but tenderness is oen most pronounced at the sacrococcygeal joint. e coccyx should be palpated for tenderness, both
externally and also via digital rectal examination. In a majority
of cases, the tip of the coccyx is subluxated or hypermobile. In
patients with normal coccygeal mobility, the pain is considered
idiopathic.
e best way to visualize these abnormalities of coccyx mobility
is to utilize dynamic lateral plain radiographs with the patient standing and seated. Normally, the coccyx pivots only slightly anteriorly or
posteriorly with sitting and then returns to the normal position upon
standing. Seventy percent of patients with coccygodynia show either
increased exion or posterior subluxation with sitting or a dorsal
spicule. Although bone scans and MRI scans are frequently obtained
in these patients and may show inammation or other abnormalities,
neither can denitively diagnose coccygodynia. ey are as accurate
as the dynamic plain lms.
Initial treatment consists of NSAIDs, warm baths, use of donut
cushions, and rest. If these measures fail, then steroid and local anesthetic injections can be administered around the side and tip of the
coccyx. is conservative management is successful in most patients.
In more severe cases, manipulation of the coccyx by repeated exion
ANAL AND PERIANAL REGION 75
Pelvic pain
Chronic pain management
and extension aer induction of general anesthesia has been used.
e most invasive treatment is a coccygectomy, which should be
reserved for patients with the most severe, disabling symptoms who
have abnormal coccygeal mobility or spicules seen on dynamic imaging. In carefully selected patients, pain relief aer coccygectomy is
reported in 60% to 90%. ese interventions should include management by an orthopedic surgeon.
CONCLUSION
Anorectal pain syndromes can be debilitating. A careful history and physical examination rule out most organic disorders.
Advanced radiographic imaging such as a CT or MRI scan may
History/physical (DRE, anoscopy, flexible sigmoidoscopy)
Organic etiology
Treat accordingly
Sacroccygeal tenderness
–
F > M
Nocturnal/diurnal
Abrupt onset and resolution
Minimal radiation
+
–
+
F > M
Continuous ache
Radiates to thigh
Anytime day>night
–
Levator tenderness
be indicated if symptoms are more concerning. If an organic disorder is not identified, the Rome III criteria can be very useful in
categorizing patients into those with levator ani syndrome versus
proctalgia fugax. Of the two, levator ani syndrome is more challenging to treat because of the chronic nature of the symptoms. In
general, simple measures should be tried first, with more invasive
approaches such as injection therapy subsequently used if necessary. Because pelvic floor dysfunction is present in a large number of the patients with levator ani syndrome, biofeedback should
play a significant role in therapy. Psychological help may also be
given to those with anxiety and depression. Coccygodynia has a
unique presentation; evidence of abnormal mobility of the coccyx
not only secures the diagnosis but can help direct management
options (Fig. 16-1).
+
F > M
Continuous dull throb
Burning, sitting on ball
Left >> right
Radiates to thighs
PROCTALGIA FUGAX COCCYGODYNIA
Response
Observe
++
Ca
channel blocker, Botox
Inhaled Salbutamol
Reassurance, heat, NSAID, muscle relaxants
No response
Orthopedic evaluation
? Coccygectomy
Response
+
Observe Psychiatric evaluation
LEVATOR SYNDROME
Radiograph/dynamic
–
LEVATOR SYNDROME PROCTALGIA FUGAX COCCYGODYNIA
–
MRI/CT
Treat accordingly
Levator massage
EGS, biofeedback
Steroids/Botox
+
FIGURE 16-1 Algorithm for the
management of pelvic/anorectal
++
pain. Ca
, Calcium; C T, computed
tomography; DRE, digital rectal
examination; EGS, electrogalvanic
stimulation; F, female; M, male;
MRI, magnetic resonance imaging;
NSAID, nonsteroidal antiinflamma-
tory drug.
Pelvic Pain76
S e l e c t e d R e a d i n g S
Atkin GK, Suliman A, Vaizey CJ. Patient characteristics and treatment out-
come in functional anorectal pain. Dis Colon Rectum. 2011;54:870–875.
Chiaroni G, Nardo A, Vantini I, etal. Biofeedback is superior to electrogal-
vanic stimulation and massage for treatment of levator ani syndrome. Gas-
troenterology. 2010;38:321–329.
Govaert B, Melenhorst J, van Kleef M, etal. Sacral neuromodulation for the
treatment of chronic functional anorectal pain: a single center experience.
Pain Prac. 2010;10:49–53.
Jeyarajah S, Chow A, Ziprin P, etal. Proctalgia fugax, an evidence-based man-
agement pathway. Int J Colorectal Dis. 2010;25:1037–1046.
Kamm MA, Hoyle CH, Burleigh DE, etal. Hereditary internal anal sphincter
myopathy causing proctalgia fugax and constipation. A newly identied
condition. Gastroenterology. 1991;100:805–810.
Kang YS, Jeong SY, Cho HJ, etal. Transanally injected triamcinolone aceton-
ide in levator syndrome. Dis Colon Rectum. 2000;43:1288–1291.
Nathan ST, Fisher BE, Roberts CS. Coccydynia: a review of pathoanatomy,
aetiology, treatment and outcome. J Bone Joint Surg. 2010;92:1622–1627.
Oliver GC, Rubin RJ, Salvati EP, etal. Electrogalvanic stimulation in the treat-
ment of levator syndrome. Dis Colon Rectum. 1985;28:662–663.
Rao SSC, Paulson J, Mata M, etal. Clinical trial: eects of botulinum toxin on
levator ani syndrome—a double-blind, placebo-controlled study. Aliment
Pharmacol er. 2009;29:985–991.
Wald A, Bharucha AE, Enck P, etal. Functional anorectal disorders. In: Dross-
man DA, Corazziari E, Delvaux M, etal., eds. Rome III: e Functional
Gastrointestinal Disorders. McLean, VA: Degnon Associates; 2006:639–
685.
A C
D
Andrea Bischoff and Alberto Peña
norectal congenital malformations include a wide spectrum of
defects, each of which requires a specic treatment and has a dif-
A
ferent functional prognosis. e main and most feared sequela is fecal
incontinence, which is a devastating problem, although anal stenosis
also may complicate some repairs.
Approximately 70% of all aected patients who are properly
treated will have voluntary bowel movements by the age of 3 years,
although some will still experience occasional soiling. About 40% of
all patients will be totally continent, meaning that they will have voluntary bowel movements and will never soil their underwear. Our
goal in treating patients born with the potential for bowel control is
to repair their malformation by preserving the anatomic elements of
fecal continence. For patients who are born without the potential for
bowel control, our goal is the anatomic repair of the defect followed
by the implementation of a bowel management program aimed at
keeping the patients constantly clean, giving them the best possible
socially acceptable quality of life. is chapter is designed to help
clinicians and surgeons nd quick answers to practical therapeutic
questions.
Because of the existence of a spectrum of defects, any attempt to
classify these malformations risks false generalizations. Table 17-1
lists the most conspicuous and common defects seen in everyday
practice and correlates each with its prognosis for bowel control.
is list may serve as a practical classication based on therapeutic and prognostic implications and includes benign defects
(traditionally known as low defects), which are treated without
a colostomy and with a small operation (anoplasty); 100% bowel
control is achieved, and these defects are associated with a very
low frequency of urinary malformations. On the other extreme of
the spectrum are complex anorectal defects that are treated with a
preliminary protective colostomy, followed by a major repair, with
a high incidence of fecal incontinence. ese patients also have a
high incidence of associated urinary malformations. e term “high
imperforate anus” is not used here because it includes malformations that require dierent treatments and have completely dierent
prognoses (see Table 17-1).
A signicant portion of patients born with anorectal malformations also have other associated defects including genitourinary,
sacrospinal, gastrointestinal, and cardiovascular defects. Early suspicion and expedited diagnosis and treatment of these defects will
help avoid increased morbidity and mortality. Genitourinary defects
represent the main source of death and morbidity, and therefore their
presence should always be kept in mind. e frequency of associated
defects varies depending on the specic type of anorectal defect (see
Table 17-1).
Establishing the nal functional prognosis in patients with anorectal malformations is an important step in their management;
it avoids false expectations from the parents and allows the early
implementation of a bowel management program in patients with a
poor functional prognosis. is approach also avoids the traditional
saga of fecally incontinent patients in search of a remedy that never
comes, guided by a hope that has no factual basis. e prognosis can
be established fairly accurately based on the type of defect. In addition, the accuracy of this prognosis can be enhanced by evaluating
the integrity of the sacrum.
Fig. 17-1 shows how to calculate the sacral ratio. Values of 0.7
and higher correlate with good prognosis for bowel control, whereas
sacral ratio values of 0.4 and lower predict fecal incontinence.
DESCRIPTION OF DEFECTS
Perineal Fistula
A perineal stula is the simplest of all defects and is seen with similar
characteristics in male and female patients. e rectum opens into
the perineum (always anterior to the location of the sphincter) and
into an abnormal orice, which is usually stenotic and therefore is
called a stula. Most of the rectum is surrounded by a good sphincter
mechanism, except in its most distal part, where the rectum deviates anteriorly. e sacrum is almost always normal, the incidence
of associated defects is low, and the functional prognosis is excellent
(see Table 17-1).
Rectal Atresia
Rectal atresia occurs in only 1% of all male or female patients. Externally the anus looks normal, but an atresia or stenosis is located about
1 to 2 cm above the anal verge, at the junction of the anal canal with
the rectum. e sphincter mechanism is normal, as is the sacrum.
e incidence of associated defects is very low, and the prognosis is
excellent (see Table 17-1). When a rectal stenosis is found, the sur-
geon should rule out the presence of a presacral mass. When a presacral mass is present, a sacral defect (hemisacrum or bid sacrum) can
be seen in the anteroposterior lm of the sacrum, which changes the
functional prognosis for bowel and urinary control.
Vestibular Fistula
A vestibular stula is the most frequently seen defect in female
patients. e rectum opens into the vestibule of the female genitalia immediately external to the hymen. Frequently, it is erroneously
called a vaginal stula. Most of the rectum is surrounded by a good
sphincter mechanism, except for the lower part, which is frequently
stenotic and is called a stula. A common wall that exists between the
rectum and the vagina must be separated during the surgical repair.
Prior to the surgical repair it is important to conrm that the patient
77
AnorectAl congenitAl DisorDers78
A
C
AB
TABLE 17-1: Common Congenital Anorectal Defects, Their Treatment, and Their Prognosis
Prognosis for Voluntary
Type of Defect Colostomy Main Repair
Bowel Movements (%)
Perineal stula (male and female) No Anoplasty 100 <10
Rectal atresia (male and female) Yes PSARP 100 0
Vestibular stula (female) Yes Limited PSARP 95 30
Imperforate anus with no stula (male and female) Yes PSARP 75 26.4
Rectourethral bulbar stula (male) Yes PSARP 85 25
Rectourethral prostatic stula (male) Yes PSARP 60 66
Cloaca (female, common channel <3 cm) Yes PSARVUP 70 60
Frequency of UrinaryAssociated Defects (%)
Cloaca (female, common channel >3 cm) Yes PSARVUP plus
laparotomy
Recto-bladder-neck stula (male) Yes PSARP plus
laparotomy
PSARP, Posterior sagittal anorectoplasty; PSARVUP, posterior sagittal anorectovaginourethroplasty.
A
B
C
BC
= 0.74
AB
FIGURE 17-1 Sacral ratio. Normal values (≥0.7) correlate with good prognosis for bowel control. Values
below 0.4 correlate with fecal incontinence.
50 90
15 92
B
BC
= 0.77
has a vagina and if there is a vaginal septum that correlates with the
presence of two hemivaginas and hemi-uteri. e sacrum is usually
normal, the frequency of association with urologic defects is low, and
the prognosis is very good (see Table 17-1).
Imperforate Anus without Fistula
An imperforate anus without a stula occurs in only 5% of all male
and female patients. It is very frequently associated with Down syndrome. e rectum ends blindly about 1 to 2 cm above the perineal
skin. e sphincter mechanism is fairly well developed, the sacrum is
usually normal, and the prognosis is good (see Table 17-1).
Rectourethral Bulbar Fistula
A rectourethral bulbar stula is perhaps the defect seen most frequently in male patients. e rectum opens into the lower (bulbar)
part of the posterior urethra. e sphincter mechanism, the quality
of the sacrum, and the functional prognosis are similar to those of
imperforate anus without a stula (see Table 17-1).
Rectourethral Prostatic Fistula
Rectourethral prostatic stulas are fairly common in male patients.
e rectum opens into the upper (prostatic) part of the posterior
urethra. e sphincter mechanism is frequently underdeveloped, the
sacrum is frequently abnormal, the perineum tends to be at, and the
scrotum is frequently bid. e prognosis is not as good as in cases of
bulbar stula (see Table 17-1).
Cloaca
Cloaca is a complex malformation seen in female patients. e rectum, vagina, and urethra are fused, forming a single common channel
that opens into a single orice located where the female urethra normally is found. e frequency of urologic defects is extremely high.
ANAL AND PERIANAL REGION 79
Male Newborn with Anorectal Malformation
“Bucket handle” defect
Minimal PSARP
PSARP
Perineal inspection and urinalysis
Clinical evidence
(90%)
Perineal fistula
Meconium in urine
Midline raphe fistula
Anal stenosis
Minimal PSARP
No colostomy
FIGURE 17-2 Algorithm for congenital anorectal malformations in males. PSARP, Posterior sagittal
anorectoplasty.
(wait 24 hr )
“Flat bottom”
Colostomy
Questionable
(10%)
Cross-table lateral film,
prone position
>1 cm
bowel-skin
distance
<1 cm
bowel-skin
distance
No colostomy
e length of the common channel varies from 1 to 10 cm and has
important prognostic implications. Our studies indicate that when
the common channel is shorter than 3 cm, the prognosis is remarkably better than in cases with longer channels (see Table 17-1).
Recto-Bladder-Neck Fistula
A recto-bladder-neck stula is the highest defect seen in male patients
and occurs in 10% of all male cases. e rectum opens into the bladder neck. Most of these patients have other associated defects, and the
functional prognosis is poor (see Table 17-1).
NEONATAL MANAGEMENT
When confronted with a newborn baby with an anorectal malformation, the surgeon must consider two important questions:
1. Does the baby need a diverting colostomy as a temporary man-
2. Does the baby have an associated defect that threatens his or
ese two questions can be answered by following relatively easy
decision-making algorithms (Figs. 17-2 and 17-3).
A golden rule that must always be observed concerning the creation of a colostomy is to wait 20 to 24 hours aer birth before making a decision. e reason for this delay is that a signicant increase
in the intrarectal pressure is required to force the passage of meconium through a usually narrow stula. Knowing the origin of the
meconium, one learns about the location of the stula (perineum,
vestibule, or urinary tract) or the absence of a stula, and those facts
help determine the best treatment for the patient.
A protective colostomy is still the best initial treatment for most
patients with anorectal malformations because it decompresses the
agement or a small primary operation (anoplasty)?
her life and requires immediate treatment?
gastrointestinal tract, avoids the contamination of the urinary tract,
and has minimal morbidity when performed properly. Patients with
perineal stulas (traditionally known as low defects) are treated with
a primary anoplasty without a protective colostomy. e diagnosis of
a perineal stula is a clinical one and is established by a careful examination of the baby’s perineum. ese babies have a good-looking
perineum, meaning that both buttocks are well formed with a conspicuous midline groove and a prominent anal dimple that represents
the center of the sphincter and, therefore, the place where the anus
should be located. Anterior to that site, one can almost always identify a narrow orice through which meconium comes out, usually
between 12 and 24 hours aer birth. e stula is located somewhere
between the genitalia and the center of the sphincter. Male patients
may have peculiar perineal ndings that include a prominent skin
tag below which an instrument can be passed and is therefore called
a “bucket handle malformation.” e perineal stula is to be found
below the “handle.” Sometimes the stula runs subepithelially in the
midline raphe, opening at the base of the scrotum or even at the base
of the penis; the layer of epithelial cells that covers the stula is so
thin that one can see the meconium and, therefore, the baby seems
to have a midline black ribbon. e perineal stula is sometimes very
small and can be undetected for the rst 24 hours. erefore, before
accepting that no perineal stula is present, one must wait 24 hours
because sometimes, aer that time, meconium emerges through a
pinhole orice.
e absence of a perineal stula, as well as the presence of meconium in the urine, or a vestibular stula, or a single perineal orice
(cloaca), is an indication for a colostomy. Other perineal ndings that
are greatly suggestive of a very high defect and are also indications for
a colostomy include a at bottom, meaning an absence of the midline
groove and an absence of an anal dimple.
In about 85% to 90% of cases, one can nd enough clinical evidence through examination of the perineum to be able to make an
decision concerning the creation of a colostomy or the performance
of an anoplasty. In the remaining 10% to 15% of cases, a radiologic
80
AnorectAl congenitAl DisorDers
Female Newborn with Anorectal Malformation
Perineal inspection
(wait 24 hr )
Fistula (approx. 95%)
Cloaca Cutaneous
Emergency
GU evaluation
Colostomy and
If necessary
FIGURE 17-3 Alg
posterior sagittal anorectoplasty; PSARVUP, posterior sagittal anorectovaginourethroplasty.
valuation is indicated. e traditional invertogram (upside-down
e
Vaginostomy
Urinary diversion
3 months
PSARVUP PSARP
orithm for congenital anorectal malformations in females. GU, Genitourinary; PSARP,
Vestibular
(or vaginal)
Colostomy
4–8 weeks: rule
out associated
malformations,
verify normal
growth
Minimal PSARP
No colostomy
lm) is no longer performed because of the risks of vomiting and
bronchial aspiration. e same image can be obtained by taking a
cross-table lateral lm of the pelvis with the patient in the prone
position with the pelvis elevated and with a lead marker in the anal
dimple. e distal end of the rectum can be seen to be full of air, and
the distance from the rectum to the anal dimple can be measured. If
this distance is longer than 1 cm, it is an indication for a colostomy
because the patient likely has an imperforate anus without a stula.
e very unusual instance of a distance shorter than 1 cm usually
means that the patient has a perineal stula that was missed during
the examination of the perineum, and therefore the patient can be
treated with a primary anoplasty without a colostomy. Figs. 17-2 and
17-3 show the decision-making algorithms used in the management
of newborn babies with anorectal malformations.
During the waiting period of 24 hours, the presence of associated
defects, particularly urinary malformations, must be ruled out. An
ultrasound study of the abdomen and pelvis is mandatory and is the
best initial screening test to rule out the presence of hydronephrosis,
megaureter, and hydrocolpos in female patients. If ndings of this
study are normal, no further examinations are indicated to evaluate the urinary tract. On the other hand, an abnormality found on
ultrasound is an indication for further urologic evaluation. A plain
radiograph lm of the sacrum is also very useful; an absent sacrum or
a very hypotrophic one usually means that the patient has a high and
rather complex malformation and thus needs a diverting colostomy.
Cardiac or gastrointestinal evaluations are performed if the patient
shows related symptoms.
In patients with anorectal malformations, a colostomy is an
important source of complications when it is not performed properly. e colostomy should be totally diverting (with separated stomas) to avoid fecal contamination of the urinary tract. In addition,
when deciding the portion of colon to be exteriorized, one must be
No fistula (approx. 5%)
(perineal)
ure to leave enough length of colon distal to the colostomy to allow
s
Cross-table lateral film,
prone position
<1 cm
bowel-skin
distance
rule out associated
>1 cm
bowel-skin
distance
Colostomy
4–8 weeks:
malformations,
verify normal
growth
PSARP
the pull-through of the rectum to be performed at a later time. In
our experience, the best type of colostomy is in the descending colon
with separated stomas. e mucus stula (distal stoma) is intentionally created to be narrow to avoid prolapse because it is used only for
irrigations and diagnostic tests.
MAIN REP
AIR
Anoplasty
A
n anoplasty is used to repair minor anal defects (a perineal stula)
in both male and female patients. In both male and female patients,
the goal of the procedure is to move the anal orice back and place it
within the bounds of the external sphincter, which is the lowest part
of the funnel-like sphincter mechanism.
e operation is usually performed during the newborn period
because at that stage of life no bowel preparation is required. When
the operation is performed later in life, patients require a strict bowel
preparation, which is not easy to achieve because these patients experience constipation.
With the patient in the prone position and the pelvis elevated,
multiple ne sutures are placed at the mucocutaneous junction of
the stula to exert a uniform traction to facilitate the dissection of
the rectum. e external sphincter is divided in the midline and the
rectum is positioned within its limits. In male patients, it is imperative to place a Foley catheter in the urethra to avoid urethral injury
because the anterior wall of the rectum is intimately attached to the
urethra. In females, the rectum is intimately attached to the vagina,
and during the dissection, checking the thickness of the rectum and
the vaginal wall avoids injury to the vagina.