Achalasia

Question 1

Define Achalasia

Answer 1

Primary Motor Disorder of Oesophagus - Characterised by failure of lower oesophageal sphincter to relax in response to swallowing and aperistalsis of oesophagus.

Question 2

Explain the aetiology of Achalasia

Answer 2

Hypertensive Lower Oesophageal Sphincter (50%)

Inflammatory destruction of inhibitory nitrinergic ganglions in the oesophageal myenteric plexus - can be triggered by infection, autoimmunity.

Increased risk in consanguineous offspring
Allgrove syndrome mapped to chromosome 12

Question 3

Explain the risk factors of Achalasia

Answer 3

Allgrove syndrome = triple A syndrome
(Achalasia, Addisonianism and Alacrima)
Rare autosomal recessive

Herpes/measles viruses
Autoimmune
HLA class-II antigens
Consanguineous parents

Question 4

Summarise the epidemiology of achalasia

Answer 4

Incidence peaks in older individuals
Equal gender distribution
Increased incidence in Western countries – around 1 in 100,000 people per year

Question 5

What are the presenting symptoms of achalasia?

Answer 5

Dysphagia
Regurgitation
Retrosternal pain/ heart burn - Relieved by cold water
Weight loss
Hiccups
Recurrent chest infections
Globus (sensation of lump in throat)

Question 6

What are the signs of achalasia on physical examination

Answer 6

Posturing (adopt certain postures) - aid swallowing

Coughing upon swallowing

Question 7

What are the appropriate investigations for achalasia?

Answer 7

1st line
Upper GI endoscopy - Mucosa obscured by retained saliva with frothy appearance
In advanced disease, the oesophagus may be dilated and tortuous and contain food debris

2nd line
Barium swallow - 
Loss of peristalsis
Delayed oesophageal emptying
Dilated oesophagus that tapers smoothly to beak-like narrowing

3rd line
Oesophageal manometry -
Typically, high resting lower oesophageal pressure
Incomplete relaxation of the lower oesophageal sphincter with wet swallows
Oesophageal aperistalsis

Question 8

What other investigation will reveal positive signs for achalasia?

Answer 8

CXR -
Absence of gastric gas bubble
Unusual shape of oesophagus

Timed barium oesophagogram -
Delayed oesophageal transit time

CT chest -
Dilated oesophagus
Concentric thickening of oesophageal wall