AchalasiaAchalasia: : DxDx & Mgt.& Mgt.

Srinidhi JayaramSrinidhi JayaramPGY 2, General SurgeryPGY 2, General SurgeryMemorial University of NewfoundlandMemorial University of Newfoundland

CaseCase

•• 32 M presents with 32 M presents with dysphagiadysphagia. Progressive over the . Progressive over the past 15 months from solids to liquids.past 15 months from solids to liquids.

•• 15 lb wt loss.15 lb wt loss.•• No significant No significant PMHxPMHx..•• No significant No significant FMHxFMHx•• GP has been treating him for GERD with PPI, no GP has been treating him for GERD with PPI, no

improvement in improvement in SxSx..•• Not a smoker, has occasional alcohol.Not a smoker, has occasional alcohol.•• What else on What else on hxhx??

•• On further On further hxhx……pt c/o of pt c/o of ““stickingsticking”” of food and of food and worse worse sxsx with cold liquids.with cold liquids.

•• Now has to drink lots of water to get food down.Now has to drink lots of water to get food down.•• Occasionally must vomit to relieve Occasionally must vomit to relieve sxsx..•• No constitutional No constitutional sxsx other than the progressive wt other than the progressive wt

loss.loss.•• States he had pneumonia 4 times over the winter States he had pneumonia 4 times over the winter

requiring requiring abxabx..•• Has really bad breathHas really bad breath……and canand can’’t get a date.t get a date.•• PE unremarkable except for halitosis.PE unremarkable except for halitosis.•• What investigations?What investigations?

OutlineOutline

•• PathophysiologyPathophysiology and and etiologyetiology of of primary primary achalasiaachalasia..

•• Other types of Other types of achalasiaachalasia -- secondary & secondary & vigorous.vigorous.

•• Clinical manifestations & Clinical manifestations & DxDx..•• Treatment.Treatment.•• Brief discussion on approach to a pt Brief discussion on approach to a pt

with with dysphagiadysphagia..

PathophysiologyPathophysiology

•• Act of swallowing (deglutition) normally initiates a Act of swallowing (deglutition) normally initiates a peristaltic wave that propels food down the peristaltic wave that propels food down the esophesoph..

•• Deglutition also triggers relaxation of the lower Deglutition also triggers relaxation of the lower esophesoph sphincter (LES).sphincter (LES).

•• AchalasiaAchalasia –– Greek term meaning Greek term meaning ““does not relaxdoes not relax””•• Loss of peristalsis of distal Loss of peristalsis of distal esophesoph (predominantly (predominantly

smooth muscle) & failure of LES relaxation.smooth muscle) & failure of LES relaxation.

•• Continuous LES contraction causes functional Continuous LES contraction causes functional obstruction of obstruction of esophesoph that persists until the that persists until the hydrostatic pressure of retained material exceeds the hydrostatic pressure of retained material exceeds the pressure generated by the sphincter muscle.pressure generated by the sphincter muscle.

•• Cause is unknown.Cause is unknown.•• AchalasiaAchalasia results from degeneration of neurons in results from degeneration of neurons in

esophesoph wall.wall.

•• HistologicHistologic exam reveals decreased number of exam reveals decreased number of neurons (neurons (dysganglionosisdysganglionosis or or aganglionosisaganglionosis) in the ) in the myentericmyenteric plexuses (plexuses (AuerbachAuerbach’’ss).).

•• Ganglion cells remaining often are surrounded by Ganglion cells remaining often are surrounded by lymphocytes and lymphocytes and eosinophilseosinophils..

•• This inflammatory degeneration involves the nitric This inflammatory degeneration involves the nitric oxide and VIP producing cells. These are inhibitory oxide and VIP producing cells. These are inhibitory neurons that effect the relaxation of neurons that effect the relaxation of esophesoph smooth smooth muscle.muscle.

•• The cholinergic neurons that contribute to LES tone The cholinergic neurons that contribute to LES tone by causing by causing smsm muscle contraction are spared.muscle contraction are spared.

•• Loss of inhibitory Loss of inhibitory innervationinnervation in LES causes the basal in LES causes the basal sphincter pressure to rise rendering the sphincter sphincter pressure to rise rendering the sphincter muscle incapable of normal relaxation.muscle incapable of normal relaxation.

•• This loss of inhibitory This loss of inhibitory innervationinnervation can be can be demonstrated by demonstrated by cholecystokinincholecystokinin (CCK) test.(CCK) test.

•• Normally, CCK Normally, CCK octapeptideoctapeptide stimulates contraction of stimulates contraction of SM cells in LES & release of inhibitory SM cells in LES & release of inhibitory neurotransmitters from ganglion cells in wall of neurotransmitters from ganglion cells in wall of esophesoph. Thus, the weak, direct stimulatory effect of . Thus, the weak, direct stimulatory effect of CCK on the LES is opposed by CCKCCK on the LES is opposed by CCK--induced release induced release of inhibitory NTof inhibitory NT’’s.s.

•• In In achalasiaachalasia, , when CCK is when CCK is administered, administered, the direct the direct stimulatory stimulatory effect of the effect of the hormone on SM hormone on SM is unopposed is unopposed and LES and LES pressure rises.pressure rises.

EtiologyEtiology

•• Unknown cause of the inflammatory degeneration of Unknown cause of the inflammatory degeneration of AuerbachAuerbach’’ss plexus.plexus.

•• Theoretical association with HLATheoretical association with HLA--DQw1. DQw1. AchalasiaAchalasiaptpt’’s often have circulating antibodies to enteric s often have circulating antibodies to enteric neurons, suggesting that the neurons, suggesting that the d/od/o may be may be autoimmune.autoimmune.

Other types of Other types of achalasiaachalasia

•• Secondary (Secondary (pseudoachalasiapseudoachalasia)) –– symptoms and symptoms and radiographic findings in keeping with radiographic findings in keeping with achalasiaachalasia, , however, there is an identifiable cause and does not however, there is an identifiable cause and does not have the characteristic have the characteristic histologichistologic findings.findings.

•• MalignancyMalignancy is the most common cause of is the most common cause of pseudoachalasiapseudoachalasia. .

•• Tumour either invades Tumour either invades esophesoph neural plexuses neural plexuses ororthrough the release of through the release of humoralhumoral factors that disrupt factors that disrupt esophesoph function as part of a function as part of a paraneoplasticparaneoplastic syndrome.syndrome.

•• ChagasChagas dzdz –– parasitic infection of the parasitic infection of the esophesoph by by TrypanosomaTrypanosoma cruzicruzi. Can result in a loss of . Can result in a loss of intramural ganglion cells leading to intramural ganglion cells leading to aperistalsisaperistalsis and and incomplete LES relaxation.incomplete LES relaxation.

•• AmyoidosisAmyoidosis, , sarcoidosissarcoidosis, , neurofibramatosisneurofibramatosis, , eosinophiliceosinophilic gastroenteritis, MEN 2B, juvenile gastroenteritis, MEN 2B, juvenile SjogrenSjogren’’ss syndrome, chronic idiopathic intestinal syndrome, chronic idiopathic intestinal pseudopseudo--obstruction, and obstruction, and FabryFabry dzdz are all causes of are all causes of pseudoachalasiapseudoachalasia..

•• Vigorous Vigorous achalasiaachalasia –– described in 1957 as a described in 1957 as a subset of subset of achalasiaachalasia with a higher contraction with a higher contraction amplitude (>37 mm Hg), minimal amplitude (>37 mm Hg), minimal esophagealesophagealdilatation, prominent tertiary contractions, and dilatation, prominent tertiary contractions, and higher incidence of chest pain.higher incidence of chest pain.

Clinical manifestationsClinical manifestations

•• Incidence of 0.5 Incidence of 0.5 –– 1 per 100,000 in US.1 per 100,000 in US.•• Affects both sexes equally.Affects both sexes equally.•• More common in ages 20 More common in ages 20 –– 50.50.•• DysphagiaDysphagia is the cardinal feature. is the cardinal feature.

•• 91% for solids. 85% for liquids.91% for solids. 85% for liquids.

•• Chest pain.Chest pain.•• GER.GER.•• Varying degrees of wt loss.Varying degrees of wt loss.•• GlobusGlobus..

Patient presentationPatient presentation

•• Symptoms are insidious in onset and gradual.Symptoms are insidious in onset and gradual.•• Progressive Progressive dysphagiadysphagia to solids and liquids.to solids and liquids.•• Often present later (Often present later (avgavg 2 years after onset of 2 years after onset of sxsx) )

because because sxsx are attributed to and treated as GERD.are attributed to and treated as GERD.•• Although there is a component of GER, it is not a Although there is a component of GER, it is not a

predominant feature.predominant feature.•• Stress and cold foods exacerbate Stress and cold foods exacerbate dysphagiadysphagia..•• Develop Develop odynophagiaodynophagia and chest pain due to and chest pain due to

retention of ingested material.retention of ingested material.

•• Pts may adopt specific Pts may adopt specific maneuversmaneuvers to aid to aid esophagealesophagealemptying:emptying:•• Standing after eating to enlist aid of gravity Standing after eating to enlist aid of gravity •• Raising arms after eating to increase the Raising arms after eating to increase the intrathoracicintrathoracic

pressurepressure•• Use of large amount of water to wash food downUse of large amount of water to wash food down

•• Recurrent aspiration may result from chronic GER Recurrent aspiration may result from chronic GER and may lead to pulmonary complications.and may lead to pulmonary complications.

•• Heartburn more so than GER is complained about, Heartburn more so than GER is complained about, this occurs because of fermentation of retained food this occurs because of fermentation of retained food in the dilated in the dilated esophesoph..

DiagnosisDiagnosis

•• H & PH & P•• CXRCXR –– mediastinalmediastinal widening, loss of gastric widening, loss of gastric

bubble, AFL in chestbubble, AFL in chest..•• Barium swallowBarium swallow –– diagnostic accuracy of diagnostic accuracy of

95%. Classic 95%. Classic ““birdbird’’s beaks beak””..•• OGDOGD –– to identify associated to identify associated esophagitisesophagitis

secondary to retained material and to secondary to retained material and to r/or/omalignancy. malignancy. EsophEsoph stasis predisposes to stasis predisposes to candidiasiscandidiasis..

•• ManometryManometry –– gold standard for confirming gold standard for confirming dxdx. Three characteristic features:. Three characteristic features:

•• Elevated resting LES pressureElevated resting LES pressure (above 45mmHg). LES HTN(above 45mmHg). LES HTN•• Incomplete LES relaxationIncomplete LES relaxation. Normally there is complete LES . Normally there is complete LES

relaxation after swallowing. This finding distinguishes relaxation after swallowing. This finding distinguishes achalasiaachalasia from other from other esophagealesophageal motility disorders.motility disorders.

•• AperistalsisAperistalsis.. Swallows may elicit no Swallows may elicit no esophesoph contraction or contraction or low amplitude.low amplitude.

•• ManometryManometry will distinguish primary will distinguish primary achalasiaachalasia from from vigorous.vigorous.

•• In vigorous In vigorous achalasiaachalasia simultaneous contractions have simultaneous contractions have higher amplitudes.higher amplitudes.

CXRCXR

Barium swallowBarium swallow

OGDOGD

•• Crucial to rule out Crucial to rule out pseudoachalasiapseudoachalasia and malignancy.and malignancy.

ManometryManometry

TreatmentTreatment

•• Any treatment is directed at the palliation of Any treatment is directed at the palliation of sxsx and and cannot change the underlying pathology.cannot change the underlying pathology.

•• Goal is to relieve the functional obstruction and Goal is to relieve the functional obstruction and improve improve esophagealesophageal emptying.emptying.

•• Four modalities:Four modalities:•• PharmacotherapyPharmacotherapy•• BotulinumBotulinum toxintoxin•• Pneumatic dilationPneumatic dilation•• SurgicalSurgical

•• PharmacotherapyPharmacotherapy –– agents that relax SM and agents that relax SM and theoretically decrease LES pressure.theoretically decrease LES pressure.

•• Nitrates & calcium channel blockers (CCB)Nitrates & calcium channel blockers (CCB)•• Side effects such as headaches and peripheral Side effects such as headaches and peripheral edemaedema

are common.are common.•• Limited success & poor long term results because of Limited success & poor long term results because of

incomplete absorption of PO, therefore incomplete absorption of PO, therefore s/ls/l route route better.better.

•• Suitable for treating minimal Suitable for treating minimal sxsx and use in pts unable and use in pts unable to undergo more effective invasive to undergo more effective invasive txtx. Effects are . Effects are only temporizing.only temporizing.

•• BotulinumBotulinum toxin toxin –– neurotoxin produced by neurotoxin produced by Clostridium Clostridium botulinumbotulinum. Binds to cholinergic nerves . Binds to cholinergic nerves and irreversibly inhibits acetylcholine release.and irreversibly inhibits acetylcholine release.

•• Effect is eventually overcome by regeneration of new Effect is eventually overcome by regeneration of new synapses.synapses.

•• Botox is injected in to LES Botox is injected in to LES endoscopicallyendoscopically. Since . Since 1990s.1990s.

•• Blocks the excitatory neurons that increase LES SM Blocks the excitatory neurons that increase LES SM tone, thereby decreasing LES contraction.tone, thereby decreasing LES contraction.

•• Initially effective in 60Initially effective in 60--85%, but 50% develop 85%, but 50% develop recurrent recurrent sxsx in 6/12.in 6/12.

•• ShortShort--term results are good, but longterm results are good, but long--term results are term results are disappointing.disappointing.

•• Repeat injection is possible, but efficacy is Repeat injection is possible, but efficacy is diminished with subsequent injections.diminished with subsequent injections.

•• Botox injection can cause an intense inflammatory Botox injection can cause an intense inflammatory rxnrxn of the GEJ, with subsequent fibrosis. This may of the GEJ, with subsequent fibrosis. This may impair future surgical impair future surgical txtx..

•• Appears to be more effective in the elderly and in Appears to be more effective in the elderly and in those with vigorous those with vigorous achalasiaachalasia..

Pre Botox injection Post Botox injection

•• Pneumatic dilation Pneumatic dilation –– oldest treatment of oldest treatment of achalasiaachalasia is is forcefulforceful dilation (dilation (bougienagebougienage) of LES.) of LES.

•• Originally accomplished by the passage of a piece of Originally accomplished by the passage of a piece of whalebone with a sponge affixed to the end.whalebone with a sponge affixed to the end.

•• Now Now –– use of graded pneumatic use of graded pneumatic bougiesbougies under under flouroscopicflouroscopic guidance.guidance.

•• Balloons are inflated in the LES forcefully thereby Balloons are inflated in the LES forcefully thereby disrupting the muscle fibres of LES.disrupting the muscle fibres of LES.

•• Balloon is kept inflated for 1 Balloon is kept inflated for 1 --3 min.3 min.•• Serially larger to 40mm.Serially larger to 40mm.•• Risk of perforation, therefore Risk of perforation, therefore -- post GG swallow.post GG swallow.

•• Single dilation per session.Single dilation per session.•• Repeat dilation is often used, but its efficacy is Repeat dilation is often used, but its efficacy is

diminished after two sessionsdiminished after two sessions•• Contraindications Contraindications –– hiatalhiatal hernia, hernia, megaesophagousmegaesophagous > >

77--8 cm, or 8 cm, or epiphrenicepiphrenic diverticulumdiverticulum. All increase risk . All increase risk of perforation.of perforation.

•• Overall incidence of perforation is about 2%. Most Overall incidence of perforation is about 2%. Most commonly in the distal left side.commonly in the distal left side.

•• mortality is about 0.2%mortality is about 0.2%•• ShortShort--term results of 60 term results of 60 –– 90%.90%.•• 50% of those treated once will require further dilation 50% of those treated once will require further dilation

within 5 year.within 5 year.

•• Surgical Surgical myotomymyotomy –– LES is weakened by cutting LES is weakened by cutting its muscle fibres down to mucosaits muscle fibres down to mucosa

•• First described by Ernest Heller in 1914. Originally First described by Ernest Heller in 1914. Originally was of two was of two myotomiesmyotomies: anterior and posterior.: anterior and posterior.

•• Modified Heller Modified Heller myotomymyotomy –– anterior anterior myotomymyotomy..•• Excellent results have been reported in up to 95% of Excellent results have been reported in up to 95% of

patients in select series.patients in select series.•• Traditionally accomplished by a Traditionally accomplished by a transthoracictransthoracic or or

transabdominaltransabdominal approach.approach.•• Now Now thorascopythorascopy and and laparoscopylaparoscopy predominate.predominate.•• MegaesophagousMegaesophagous > 7> 7--8cm may be a contraindication 8cm may be a contraindication

and these patients may require and these patients may require esophagectomyesophagectomy to to palliate palliate sxsx..

•• ThorascopicThorascopic myotomymyotomy –– long long myotomymyotomy can be can be performed, extending 0.5cm across GEJ.performed, extending 0.5cm across GEJ.

•• Thought was that this would provide relief of Thought was that this would provide relief of dysphagiadysphagia without rendering the without rendering the cardiacardia completely completely incompetent resulting in significant GER.incompetent resulting in significant GER.

•• InitiallyInitially