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Department of Medicine

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
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

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

Annual incidence 1.6 cases per 100,000

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

Degeneration of neurons in the oesophageal wall

Loss of inhibitory neurons in oesophageal body wall

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
Typanosoma cruzi infcetion

Usually insidious, gradual onset

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

Unresponse to trial of PPI 4/52


Manoevers while eating to overcome distal obstruction
Slow Eating
Lift Neck / Move Shoulders back
Differential Diagnosis
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-
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

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)

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

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

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)

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

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
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
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
d)Endoscopic Balloon Dilatation (graded pneumatic dilation)
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

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)
Barium Swallow
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