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Department of Medicine

ACHALASIA
Learning outcomes

At the end of this lecture, a student should be able to:


Define achalasia
Describe the pathogenesis of achalasia
Discuss the the epidemiology and risk factors for
achalasia
Identify the symptoms and signs of achalasia
List suitable differential diagnoses for achalasia
Plan the diagnostic investigations for achalasia
Outline the management of achalasia
Identify the complications and prognosis of achalasia
Definition

Primary achalasia
Oesophageal motor disorder of unknown aetiology in which there is loss of peristalsis
in the distal oesophagus and failed relaxation of the LES (Lower Esophageal
Sphincter) with swallowing.

Primary achalasia is characterised


Manometrically, by loss of oesophageal peristalsis and insufficient relaxation of the
lower oesophageal sphincter ;
Radiographically by aperistalsis, oesophageal dilation, with minimal LES opening,
bird-beak appearance, poor emptying of barium
Endoscopically by dilated oesophagus with retained saliva, liquid, and undigested
food particles in the absence of mucosal stricturing or tumour
Epidemiology

Annual incidence 1.6 cases per 100,000


individuals
Prevalence of 10 cases per 100,000 individuals
Equal frequency in men and women
Age of diagnosis usually 25 60 years
Pathogenesis

Degeneration of neurons in the oesophageal wall


Loss of inhibitory neurons in oesophageal body wall
Aperistalsis

Degeneration of neurons in the Lower Oesophageal Sphincter


Loss of inhibitory neurons in Lower Oesophageal Sphincter
Sparing Cholinergic Neurons in Lower Oesophageal Sphincter
Impaired Sphincter Muscle Relaxation

Aetiology of primary achalasia is unknown


Risk Factors

Associated with HLA-DQw1


Possible relationship to chronic infections with herpes
zoster, measles
May be triggered by HSV-1 infections
Amyloidosis
Sarcoidosis
Neurofibromatosis
Typanosoma cruzi infcetion
Symptoms

Usually insidious, gradual onset


Dysphagia
Intermittent
for Solids (85%) and Liquids from Onset
Regurgitation of undigested food (76%)
Regurgitation of saliva
Difficulty Belching (85%)
Substernal chest pain (40%)
Heartburn
Hiccups
Mild Weight-Loss

Unresponse to trial of PPI 4/52


Signs

Hiccups
Manoevers while eating to overcome distal obstruction
Slow Eating
Lift Neck / Move Shoulders back
Differential Diagnosis
Pseudoachalasia
Malignancy (tumours infiltrating myenteric Systemic Sclerosis
plexus) Amyloidosis
Gastric Carcinoma Sarcoidosis
Oesophageal Carcinoma Neurofibromatosis
Lung Carcinoma of the lung Eosinophilic gastroenteritis
Breast Carcinoma Multiple endocrine neoplasia,
Lymphoma type 2B Juvenile Sjgren's syndrome with
Pancreatic carcinoma achalasia and gastric hypersecretion
Hepatocellular Carcinoma Chronic idiopathic intestinal pseudo-
obstruction
Infection
Anderson-Fabry disease
Chagas Disease (Central & South
American protozoan Trypanosoma
cruzi oesophageal infection) Secondary achalasia
Spastic Motility Disorders prior tight fundoplication
Diffuse oesophageal spasm (DES) laparoscopic adjustable gastric banding
nutcracker oesophagus
Investigations

Manometry (Dignostic)
Aperistalsis in the distal two-thirds of the esophagus
Incomplete lower esophageal sphincter (LES) relaxation after swallowing
Elevated resting lower esophageal sphincter (LES) pressure (>45mmHg)
High resolution manometry
Impaired oesophagogastric junction relaxation
Defined as a mean four-second integrated relaxation pressure (IRP) 15 mmHg

Barium Esophagram / Barium Swallow (if equivocal manometry)


Aperistalsis
Dilation of the esophagus
Bird beak appearance
Poor emptying
Barium esophagram may be falsely negative in 1/3 of patients

Endoscopy (to outrule gastro-oesophageal junction malignancy) +/- endoscopic


ultrasound
Chest X-Ray
May show widening of the mediastinum
Normal gastric bubble may be absent
Investigations
Management
First Line Treatment
Endoscopic balloon dilatation (graded pneumatic dilation)
or
Laparoscopic Hellers myotomy +/- Partial Fundoplication
or
Per-oral endoscopic myotomy (POEM)

First Line Treatment (if unfit for surgery)


Botulinum Toxin Therapy (Inhibit presynaptic acteylcholine release from Cholinergic Nerve)

Second Line Therapy (if failed botulinum toxin therapy)


Calcium Channel Blockers
Nifedipine 10 30 mg sublingually 30 mins pre-meals
decrease LES pressure by 15 50 %
S/E: Leg oedema, hypotension ,flushing
Long-acting Nitrates
Isosorbide dinitrate 5 mg Sublingual 10 mins pre-meals
decreasing LES pressure by 30 65 %
S/E: headaches, hypotension
Management
Complications

Oesophageal cancer
Increased risk of oesophageal cancer
Usually squamous cell type
Low absolute risk of oesophageal cancer
endoscopic surveillance in patients with achalasia - Not Currently Recommended
Late / End Stage Achalasia
Esophageal tortuosity / angulation
Severe Esophageal Dilation / Megaesophagus (diameter >6 cm)
Prognosis

Without treatment
Progressive dilation of the oesophagus
Late- or end-stage achalasia is characterized by esophageal tortuosity, angulation,
and severe dilation or megaesophagus

With Treatment
10% of patients will develop late- or end-stage achalasia
5% require oesophagectomy
References

Sadowski DC, Ackah F, Jiang B, Svenson LW. Achalasia: incidence, prevalence and
survival. A population-based study. Neurogastroenterol Motil. 2010;22(9):e256
Michael F. Vaezi, John E. Pandolfino, and Marcelo F. Vela. ACG Clinical Guideline:
Diagnosis and Management of Achalasia. Am J Gastroenterol 2013.196
UpToDate
Kumar and Clarke Clinical Medicine 2012
Sample MCQ

A 34 year old Irish lady presents to her GP with intermittent dysphagia over past 2 years. Dysphagia has been with both
solids and liquids from onset. She also reports hiccups but no weight loss. Examination was normal. What is the likely
diagnosis?
a)Achalasia
b)Chagas
c)Oesophageal cancer
d)Metastatic Breast Cancer
e)Systemic Sclerosis
Answer: A (Slide 7)
A 44 year old man presents to his GP with progressive intermittent dysphagia over past 3 years. Dysphagia has been
with both solids and liquids from onset. He also reports substernal chest pain and heartburn. He was tried on 1 month
course of pantoprazole which did not improve his symptoms. Which of the following is the next appropriate step?
a)Barium Esophagram
b)Botulinum Toxin Therapy
c)Endoscopy
d)Endoscopic Balloon Dilatation (graded pneumatic dilation)
e)Manometry
Answer: E (Slide 10)
Sample MCQ

A 69 year old lady has been diagnosed with Achalasia on Manometry as part of investigation of dysphagia. She is an
ex-smoker 100 pack year history and has COPD GOLD Stage 4 . She also have previous MI 4 years ago. Which
management option would be most appropriate for her?
a)Botulinum Toxin Therapy
b)Endoscopic Balloon Dilatation (graded pneumatic dilation)
c)Isosorbide Dinitrate
d)Laparoscopic Hellers Myotomy +/- Partial Fundoplication
e)Nifedipine

Answer: A (Slide 12)


Sample MEQ
A 59 year old woman presented to his GP with dysphagia 8 months. He is an ex-smoker with a 60 pack year
history. He reports 2 kg weight loss over 8 months. Clinical examination was normal.
a) List 4 differential diagnosis other than Achalasia (Slide 9)
See Slide 9
E.g. Oesophagael carcinoma, systemic sclerosis, lymphoma, breast carcinoma
b) List 4 Investigations to establish the cause of his dysphagia (Slide 10)
Manometry
Barium Swallow
Endoscopy
CT Scan
c) The patient is formally diagnosed with Achalasia. What is the pathophysiology of this disorder? (Slide 5)
Degeneration of neurons in the oesophageal wall - Aperistalsis
Degeneration of neurons in LES - impaired LES Muscle Relaxation
d) List 2 non-pharmacological treatment options (Slide 12)
Endoscopic Balloon Dilatation (graded pneumatic dilation)
Laparoscopic Hellers Myotomy +/- Partial Fundoplication
e) The patient is reluctant to have a procedure and wants to know if there is any other treatment options What is the
most suitable treatment option? (Slide 12)
Botulinum Toxin Therapy
f) List 2 other pharmacological treatment options? (Slide 12)
Isosorbide Dinitrate
Nifedipine