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236 ANORECTAL DISORDERS

19
Proctalgia and Other Anorectal
Pain Syndromes
Giuseppe Chiarioni
*,†, Francesca Carestiato*
* D I V I S I O N OF G AS T R O E NT E R O L O G Y OF T HE U N I V E R S I T Y OF V E R O N A , A Z I E N D A O S P E D AL I E R A
UN I V E R S I T A R I A I NT E G R A TA D I V E R O N A , V E R O N A , I T A L Y
†
DI V I S I ON O F G A S T R O E N T E R O L O G Y
AN D H E PA T O L O G Y & U N C C E N TE R F O R F U N C T I O N A L GI AN D M O T I L I T Y DIS O R D E RS ,
UN I V E R SI T Y O F N O R T H CA R O L I N A AT C H A P EL H I L L, C H A PE L H I LL , N C , U N I T ED S T A T E S
19.1 Introduction
Chronic proctalgia (CP) and allied pelvic-pain disorders are often neglected though disabling functional pain syndromes that have no underlying organic etiology.
1
These
syndromes are a challenge for a number of specialists—surgeons, orthopedic-surgeons,
urologists, gynecologists, gastroenterologists, and pain clinicians—both in terms of diagnosis and treatment. In addition, a psychosomatic disorder is often speculated to aggravate symptoms for the intense emotional involvement. Tense or overly contracted pelvic
floor muscles have been traditionally assumed to be a relevant proctalgia causative factor
deserving focused intervention to achieve pain relief.
1
However, the lack of etiological
understanding is mirrored by the number of synonyms used to describe pelvic-pain syndromes such as: chronic idiopathic anal pain, anorectal neuralgia, spastic pelvic-floor
syndromes, levator ani syndrome, etc.
1
A basic knowledge of the pelvic-floor anatomy and physiology is relevant to improving
the understanding of the pelvic-pain syndromes.
2
The pelvic floor is a muscle diaphragm
that supports the pelvic organ leaving a hollow for the rectum, vagina, and urethra to pass
into the perineum. The levator ani muscle is the most important of the pelvic floor muscles, which include four component parts: puborectalis, pubococcygeus, ileococcygeus,
and coccygeus. The puborectalis muscle winds around the recto-anal junction before
inserting into the pubis. These striated muscles show a peculiar condition of continuous
tonic activity that decreases during defecation and micturition.
2
Back in 1859, Simpson
first described the association between coccyx trauma and coccy godynia.
3
Thaysen in
1935 introduced the term proctalgia fugax to describe a fleeting, spontaneously remitting
severe anal pain without organic etiology.
4
Unfortunately, the term coccygodynia was also
used by Thiele in 1936 to label a chronic perineal pain syndrome of distinct etiology.
5
He
perceived that the pain was not in the coccyx, but in the overly contracted pelvic floor
muscles, which partially inserted into the coccyx. The term levator spasm syndrome
was first used by Smith in 1959.
6
His thorough clinical description of the syndrome follows
Anorectal Disorders. https://doi.org/10.1016/B978-0-12-815346-8.00019-9
© 2019 Elsevier Inc. All rights reserved.
237

that of Thiele’s and preserves its relevance nowadays. The definition of pudendal neuralgia, a chronic perineal syndrome secondary to pudendal nerve entrapment in the Alcock
canal, was even more controversial, until 2008 when the Nantes criteria were issued.
7
The aims of this chapter are to deal with the epidemiology, etiology, diagnosis, and
management of these chronic perineal pain syndromes. It should be anticipated that diagnosis and manageme nt of perineal pain can be complex and frustrating for both patients
and physicians. An empathetic, reassuring, conservativ e physician’s attitude can be helpful in most patients.
19.2 Functional Anorectal Pain
19.2.1 Definition
CP is a general term used to define a chronic or recurring pain in the anal canal or rectum.
8
Other names considered synonymous with CP are levator ani syndrome, puborectalis syndrome, chronic idiopathic perineal pain, pyriformis syndrome, and pelvic tension
myalgia.
8
To provide greater consistency in the diagnosis and labeling of anorectal pain
syndromes, the Rome IV criteria define levator ani syndrome (LAS) and unspecified anorectal pain as chronic or recurrent rectal pain or aching lasting at least 30 min, without evidence of structural or systemic disease as an explanation for these symptoms.
8
Pain
duration of at least 30 min is key to diagnosis, since shorter pain episodes are suggestive
of proctalgia fugax; an acute, spontaneously remitting functional pain syndrome.
8
The
distinction between LAS and unspecified functional anorectal pain is based on the presence of tenderness on palpation of the levator ani muscle during digital rectal examination
(DRE).
8
Subgrouping patients with functional anorectal pain is consistent with clinical
experience of different responses to treatment, but distinct epidemiology and pathophysiology data are lacking.
1
Therefore the data provided mostly refer to CP patients as
a whole.
19.2.2 Epidemiology
Chronic or frequently recurring anorectal pain is a prevalent symptom that may affect up
to 6.6% of the population according to a US householder survey run in 1993.
9
These prevalence rates were confirmed by a population survey of 6931 adults using the Rome IV diagnostic criteria: prevalence of proctalgia fugax was estimated to be 5.4% and prevalence of
functional anorectal pain was 1.7%.
10
In the householder survey proctal gia was more
commonly reported in middle-aged women with prevalence declining after the age of
45years. Although a minority of the sample consulted a physician, they nevertheless
reported significant impairment in quality of life, work absenteeism, and psychological
distress.
9
No additional study has attempted to replicate these data. However, a recent
study addressed the prevalence of levator myalgia in a large sample of referrals for any
pelvic symptoms to both a urogynecology private practice (946 patients) and an academic
tertiary referral centers (946 patients).
11
Levator myalgia is a functional disorder that is
238 ANORECTAL DISORDERS

characterized by the presence of tight, band-like pelvic muscles that reproduce the
patient’s pain when palpated, thus resembling LAS.
11
A diagnosis of levator myalgia
was made in up to 25% of academic referrals and 9% of private practice referrals.
11
Most
of the patients reported a history of disordered defecation, depression, and use of narcotic
medications.
11
19.2.3 Pathophysiology and Predisposing Conditions
Chronic tension of the pelvic floor muscles is assumed to be the pathophysiological basis
for functional anorectal pain, although there is no definitive evidence for this hypothesis.
1,12,13
Inflammation of the levator or arcus tendon of the levator ani muscle has also
been suggested as a cause of CP. This tendinitis hypothesis is favored by the common finding of tenderness on palpation on the left side of the levator ani where the muscle inserts
into the pubic ramus of the pelvis.
12,14
However, local steroid injection has not been shown
to be an effective treatment for CP.
14
More recently, lower-limb length discrepancy,
chronic straining, and inflammation due to pelvic tilting have been reported to be potential causes of CP.
13,15,16
In retrospective studies, many patients reported prior pelvic sur-
gery as well as childbirth as meaningful to the development of their pain syndrome.
17,18
In
addition, high rates of anxiety disorders and depression are frequently reported in relation
to CP and may be regarded as precipitating factors for some patients.
18
Anorectal imaging
and physiology testing have been traditionally considered to be of little diagnostic value in
CP.
8
Increased anal canal resting pressures on anorectal manometry (ARM) were incon-
sistently reported.
1
Christiansen et al. found abnormal endoanal ultrasonography features, mostly in hypoechoic areas, in the majority of 18 patients referred for chronic
idiopathic anal pain.
19
However, no correlation was found between abnormal anal mor-
phology and treatment outcome.
19
A number of structural disorders of the pelvic floor
(descending perineum, rectocele, mucosal prolapse) have also been reported in CP
patients.
1
Hompes et al. reported on anorectal testing features of 59 patients referred to
a Pelvic Floor Clinic for CP compared to 546 patients referred for obstructed defecation.
Rectal morphology examinations demonstrated high-grade internal rectal prolapse in the
majority (59%) of pain patients, which was often associated with symptoms of obstructed
defecation. However, the severity of prolapse did not correlate with pain intensity, leaving
pain pathophysiology unclear.
20
An innovative pathophysiological explanation for CP was recently reported by our
group in a prospective, randomized controlled trial (RCT) comparing biofeedback, electrogalvanic stimulation (EGS), and digital massage of the levator muscles for the treatment of CP.
21
A large sample of 157 CP patients (Rome II criteria) was studied using
both ARM and balloon evacuation test (BET) at baseline and after 3 months of treatment.
22
Physiologic features of dyssynergic defecation (i.e., paradoxical contraction or failure to
relax the pelvic floor on straining at ARM) were seen in approximately 85% of subjects
reporting tenderness on DRE (Rome II: highly likely LAS, Rome III and Rome IV: LAS).
Conversely, in patients who denied tenderness during DRE, an inability to relax the
pelvic-floor muscles on straining was an uncommon finding (19%). Dyssynergic
Chapter 19 • Proctalgia and Other Anorectal Pain Syndromes 239

defecation was a strong predictor of successful treatment outcome.21This study also
showed that the inability to relax the pelvic-floor muscles when straining to defecate
may occur without symptoms of constipation. However, no physiological explanation
could be provided for unspecified functional anorectal pain, suggesting that this FGID
may represent a heterogeneous group of patients. A recent endoanal ultrasonography
study comparing 30 CP patients to 25 healthy volunteers provided confirmative evidence
that features of dyssynergic defecation are commonly found in functional anorectal
pain.
21
19.2.4 Clinical Presentation
CP is often described by patients as a dull ache or pressure sensation in the rectum that is
exacerbated by prolonged sitting and relieved by standing or lying down.
1,6,8
The pain
commonly lasts for hours, but it might be continuous with sudden aggravation.
1,17
CP
rarely occurs at night; rather, it usually begins in the morning and increases in severity
throughout the day. Pain might radiate into the vagina, the gluteal area, or the thigh.
17
Thiele has suggested that the pain irradiation may be determined by a spastic piriform
muscle exerting pressure on the sciatic nerve as it passes through the sciatic foramen
and on the superior gluteal nerve between the upper border of this muscle and the lower
border of the gluteus muscle.
5
The pain may be precipitated by a number of app arently
unrelated factors such as long-distance car traveling, stress, sexual intercourse, and normal defecation potentially leading to stool withholding.
12,17
A number of patients reported
a surgical history of numerous procedures (e.g., sphincterotomy, hemorrhoidectomy)
being carried out in unsuccessful attempts to alleviate the pain.
1
Childbirth can be
another precipitating factor.
13
High rates of anxiety disorders and depression are fre-
quently reported in CP, and stress may act as a significant precipitating factor.
18
19.2.5 Diagnostic Tests
The diagnosis of CP still relies on a history of recurring or chronic pain, or aching in the
anal canal or rectum, with episodes lasting 30 min or longer, and exclusion of alternative
disease explanations for these symptoms using m ultiple diagnostic tests and consultations by other specialists.
1,8
DRE should be performed in any patient consulting for CP
to exclude minor anal pathology (e.g., fissure) and to ascertain whether the patient reports
tenderness when traction is applied to the levator ani muscles, because this diagnostic
sign is a strong predictor of whether the patient is likely to benefit from treatments
directed at relaxing pelvic-floor muscles (e.g., biofeedback).
1
During DRE the examining
finger is moved from the coccyx posteriorly to the symphysis pubis anteriorly.
1,7
For unexplained reasons, tenderness is often nonsymmetric, being greater on the left side than on
the right.
1,7
The examiner should pause after inserting their finger into the rectum before
applying traction on the levator muscles to avoid false-positive results. Repeating the posterior traction on the levator muscle on the same exam is also useful to check for reproducibility and to avoid false-positive results (
Table 19.1).
240 ANORECTAL DISORDERS

However, most of these patients will undergo a complex diagnostic protocol even in the
presence of a typical history and positive DRE findings.
1,21
In a recent RCT involving 227
patients referred for CP pain to a referral center the diagnostic evaluation included DRE,
colonoscopy, pelvic ultrasound, and surgical consultation in all patients leading to diagnosis of an organic disease potentially being responsible for the pain in 33 patients.
21
The organic diseases that are most commonly involved in chronic anorectal and pelvic
pain are: cryptitis, chronic fissure, abscess, hemorrhoids, solitary rectal ulcer, inflammatory bowel disease, and rectal ischemia.
1,12
One should also consider chronic prostatitis
and pelvic endometriosis as potential contributors to pelvic pain of obscure etiology.
12
When a firm diagnosis of CP is made, a simple rectal BET is a screening test worth considering to address disordered defecation features that might be relevant to treatment
23
.
19.2.6 Management
No single treatment has been reported to be consistently effective in CP and management
can be a frustrating endeavor for both patients and physicians.
1
The first-line treatment
most commonly provided is reassurance that the pain is of benign origin and is not suggestive of malignancy to allay the fear in these patients.
12
Some surgeons would also suggest sleeping on a heating pad and using a rubber ring to sit on when sitting for a long
period of time to decrease pelvic-floor muscle tension.
12
Digital massage of the puborectalis sling to relax tense muscles was one of the first
treatments proposed for CP.
6,17
Massage of the puborectalis muscle should be performed
in a firm manner from anterior to poste rior with the affected side massaged up to 50 times
at intervals of 3–4 weeks.
17
However, massage is rarely performed as the sole therapy, with
Table 19.1 Diagnosis of Proctalgia and Pelvi c Pain Syndromes
Syndrome
Assumed
Etiology
Predisposing
Factors Symptoms Digital Rectal Exam
Diagnostic
Criteria
Levator ani
syndrome
Pelvic floor
muscle spasm
Childbirth, stress,
pelvic surgery
Chronic dull rectal
ache or pressure
sensation
Tender puborectalis,
replicates pain
Rome IV
(2016)
8
Unspecified
functional
anorectal pain
Psychosomatic Childbirth, stress,
pelvic surgery
Chronic dull rectal
ache or pressure
sensation
Uneventful Rome IV
(2016)
8
Proctalgia
fugax
Increased anal
tone
Prolonged sitting,
sexual
intercourse, stress
Short-lasting rectal
cramping
Uneventful Rome IV
(2016)
8
Coccygodynia Coccyx
trauma
Coccyx instability,
spine surgery
Perineal pain
triggered by sitting
Occasionally tender
puborectalis, no pain
replication
Not
available
Pudendal
neuralgia
Pudendal
nerve
entrapment
Cycling, pelvic
trauma, pelvic
surgery
Perineal pain with
paresthesia
Uneventful Nantes
(2006)
7
Chapter 19 • Proctalgia and Other Anorectal Pain Syndromes 241

the most common adjunctive treatments being hot sit baths or a short-term course of oral
diazepam, both of which are assumed to have a myorelaxant effect on the pelvic-floor
muscles.
1
Earlier open-label studies suggested that digital massage combined with hot
sit baths and/or diazepam were effective for relieving pain in 68% of 316 CP patients.
17
However, benefits seemed to fade away during long-term follow-up, and the well-known
addictive potential of diazepam has discouraged long-term treatment.
24
EGS, traditionally used by physiatrists to treat muscle spasticity, has also been advo-
cated for the treatment of LAS when conservative therapy is ineffective.
1
A low-frequency
oscillating current applied to the pelvic-floor muscles through an anal probe induces fasciculation and prolonged fatigue, which breaks the spastic cycle and may produce sustained symptom relief.
1
Sohn and coworkers were the first to test EGS in an open study
of 80 CP patients.
25
They recommended a pulse frequency of 80 cycles per second with
the voltage being gradually increased from zero to the point of discom fort and then
reduced to a voltage the patient was comfortable with. In the Sohn study, EGS was used
as the primary form of treatment with 91% of patients reporting good to excellent pain
relief from EGS in the short-term.
25
However, additional studies investigating the longterm benefits of EGS treatment in CP found that only 25%–38% of patients reported persistent pain improvement.
1,22
In an effort to decrease anal tone, intrasp hincteric injection of botulinum toxin A
(BoTox A) was also considered. BoTox A is a neurotoxin produced by the anaerobic bacterium, Clostridium botulinum, that inhibits the release of acetylcholine at the nerve terminals thus producing chemical denervation. The injected muscles loose strength for
2–20 days and may recover in over 2–4 months as new terminal axons sprout and restore
neurotransmission. After encouraging preliminary results, intraanal injection of BoTox A
has been tested in a RCT run in 12 patients; however, no differences in rectal pain were
observed between the patients injected with active BoTox A and those injected with
saline.
26
The tendinitis (inflammation) hypothesis for CP was tested by steroid caudal block and
by pelvic tender point injection of a mixture of triamcinolone acetonide and lidocaine
with negative results.
1,14
A recent cohort study compared the outcomes of steroid injection therapy and EGS in a small sample of 53 CP patients. In the short term, injection treatment was more effective than electrotherapy in inducing total pain relief (26% vs 9% of
patients), but the benefits were lost at 1year follow-up.
14
Biofeedback treatment of LAS was first described in 1991 by Grimaud and coworkers in
a small sample study where pain disappeared in all 12 patients after a mean of eight sessions.
27
Subsequent biofeedback trials failed to replicate these positive results.15All stud-
ies were biased by small sample size and poorl y standardized treatment modalities.
1
Chiarioni and coworkers recently reported an RCTof 157 CP patients to investigate the
comparative effectiveness of biofeedback to teach pelvic floor muscle relaxation, EGS, and
digital massage of the levator muscles.
21
The biofeedback protocol was identical to the one
commonly used in constipation due to dys synergic defecation to improve defecation
effort.
28
A physiological assessment including ARM and BET was carried out at baseline
and at 1–3 months’ follow-up. The primary outcome was subjective reporting of adequate
242 ANORECTAL DISORDERS

pain relief by the patient. Secondary outcomes included subjective pain improvement on
an ordinal scale, number of days per month with rectal pain, and visual analog scale (VAS)
ratings of pain. Primary and secondary outcomes were assessed at 1, 3, 6, and 12 months’
follow-up. According to Rome II criteria, proctalgia patients were sub grouped into highly
likely LAS (Rome III and Rome IV LAS) and possible LAS (Rome III and Rome IV unspecified
functional anorectal pain) based on the presence or absence of levator tenderness on DRE,
8
and randomization to treatment groups was stratified. At 1-month follow-up, biofeedback
was found to be significantly more effective than EGS and massage by intention-to-treat
analysis, with long-term adequate relief of pain reported by 59.6% versus 32.7% versus
28.3% for biofeedback, EGS, and massage, respectively. When results were further investigated in subgroups of patients, no treatment was effective in possible LAS patients (unsp ecified anorectal pain). However, among patients with highly likely LAS (Rome III and Rome
IV LAS) adequate relief was reported by 87% for biofeedback, 45% for EGS, and 22% for massage at 1-month follow-up. The mechanism for achieving adequate pain relief was consistent with an improvement in pelvic-floor function from being unable to relax anal canal
pressures on straining to being able to do so and/or an improvement on the BET.
21
A surgical approach is not supported for functional anorectal pain. However, sacral
nerve electrostimulation (SNS) has been considered a potential treatment option in CP
patients. SNS is a marginally invasive surgical procedure for the treatment of fecal incontinence that has been reported in RCTs to benefit patients more than placebo stimulation
and conservative management by unknown mechanism.
28,29
SNS was reported to be beneficial in an open study involving 27 CP patients. However, when benefits were assessed by
intent-to-treat analysis, pain relief was reported in <50% of subjects.
28
In addition, a
recent British open label study evaluating the efficacy of SNS on 10 CP patients who were
nonresponders to conservative management found a treatment-related benefit in only
one patient.
29
19.3 Proctalgia Fugax
19.3.1 Definition
Proctalgia fugax is characterized by sharp, recurring, often self-limited anorectal pain in
the absence of organic proctology or pelvic disease.
8
The recurrent rectoanal pain needs to
last from seconds to minut es (<30 min) with complete remission between attacks to support a diagnosis of proctalgia fugax according to Rome IV criteri a.
8
Thaysen first used this
descriptive term in 1935 and the clinical features of this functional gastrointestinal disorders (FGID) have not changed since.
4
19.3.2 Epidemiology
The prevalence of proctalgia fugax is hard to determine because attacks are infrequent, of
short duration, and few patients consult for the symptom.
9,30
Prevalence in the general
population is reported to be between 4% and 18% with many patients limiting their
Chapter 19 • Proctalgia and Other Anorectal Pain Syndromes 243
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