Oesophageal motility disorders

Symptoms:

Often vague and non-specific - need to exclude cardiac, respiratory, PUD, and pancreaticobiliary disease)
Dysphagia
Chest pain
Heartburn
Regurgitation
Weight loss

Workup:

Consider presence of scleroderma - changes management
Gastroscopy and barium swallow first, followed by manometry if suspicious for motility disorder
CT scan can exclude extrinsic compression
pH testing is only necessary when the motility disorder is thought to be the result of end-stage GORD
EndoFLIP - endoluminal functional lumen imaging - balloon based catheter, which uses impedance planimetry to assess cross-sectional area and distensibility

Indications for manometry:

Dysphagia, after exclusion of structural causes
Non-cardiac chest pain
Atypical GORD
Pre-op GORD (sometimes)
pH probe placement - needs to be precisely 5cm above LOS

High-resolution manometry

36 pressure sensors space at 1cm (instead of every 3-5cm in regular manometry)
Colour pressure topography plots (Clouse plots)
Spans entire oesophagus
Fast for 4 hours prior
Integrated Relaxation Pressure
- Lowest value over a 4-second window post-swallow of relaxation pressure at LOS - gives good indication of achalasia if it's high
Distal Contractile Integral
- Measure of oesophageal contractile vigour - area under curve, starting at proximal edge of smooth muscle
- <450 is a weak swallow
- >8000 is spasm
Contractile Front Velocity
- Measures rate of propagation of oesophageal peristalsis
Distal Latency
- Measure of time between initiation of swallow and deceleration point - where there is deceleration of peristalsis - this will be short if disordered
Two bands at region of LOS = probable hiatus hernia

Classification of primary disorders by location (probably more useful):

Motility disorders of the oesophageal body
- Diffuse oesophageal spasm
- Nutcracker oesophagus
Motility disorders of the lower oesophageal sphincter
- Hypertensive lower oesophageal sphincter
Motility disorders affecting both body and lower oesophageal sphincter
- Achalasia
- Ineffective oesophageal motility

Classification by aetiology:

Primary disorders:

Achalasia

- - Failure of LOS to relax with swallowing, associated with lack of co-ordinated peristalsis in distal oesophagus
  - Risk factors
    - Usually diagnosed between 25-60yo
    - M:F equal
  - Aetiology
    - Primary
      - Unknown aetiology
      - Possibly autoimmune - possibly triggered by a virus, possibly HSV-1
    - Secondary (or more accurately, diseases that can produce manometry findings similar to primary achalasia)
      - Chagas disease (infection with protozoan parasite Trypanosoma cruzi, common in Central/South America)
      - Malignancy
      - Amyloidosis
      - Neurofibromatosis
      - Eosinophilic oesophagitis
      - MEN 2B
      - Juvenile Sjogren's syndrome
      - Chronic idiopathic intestinal pseudo-obstruction
      - Anderson-Fabry disease
  - Pathophysiology (of primary achalasia)
    - Degeneration of ganglion cells in the myenteric plexus in the oesophageal wall. Leads to reduced neuromuscular function of the oesophagus, possibly secondary to destruction of nerves to LOS
    - Loss of inhibitory neurons is especially important
    - Oesophageal dilation is a result of chronic obstruction and compensatory remodelling. This is a sign of more advanced disease
    - Subtle impaired upper oesophageal sphincter relaxation is also often seen
    - Histologic examination reveals decreased numbers of neurons, and those that remain are surrounded by inflammation
    - Increased risk of SCC, but not by very much, 3% over 13 years in one series
  - Presentation
    - Insidious onset
    - Classic triad - dysphagia (91%), regurgitation (90%), weight loss
    - Also heartburn, post-prandial choking and nocturnal coughing
    - Dysphagia often begins with liquids and progresses to solids
    - Recurrent aspiration - pneumonia, lung abscess, bronchiectasis
    - Severity assessed using Eckardt score (dysphagia, regurgitation, retrosternal pain, weight loss rated 0-3)
  - Natural history
    - Late disease characterised by very dilated oesophagus
  - Diagnosis
    - Manometry
      - Elevated integrated relaxation pressure >=15mmHg and absence of normal peristalsis
      - Type I (classic): 100% failed peristalsis as indicated by a distal contractile integral <100mmHg/s/cm, and without pan-oesophageal pressurisation
      - Type II: 100% failed peristalsis and pan-oesophageal pressurisation seen in >20% of swallows
      - Type III (spastic): no normal peristalsis and premature contractions with distal latency <4.5s and DCI>450mmHg/s/cm seen in >20% of swallows
    - Barium swallow - bird's beak, sphincter spasm with delayed emptying, dilatation of oesophageal body, lack of peristaltic waves in the body and failure of relaxation of LOS
    - Gastroscopy - rule out pseudoachalasia - GOJ tumours, neuropathy, strictures. Note 'popping' feeling as you pass through LOS.
      - Can use the 'Content, Anatomy, Resistance and Stasis' (CARS) score - which I can't find online in July 2024

Classification based on area of achalasia ("Chicago classification" - v4.0 is latest (2020))

- Cannot be applied to people with previous foregut surgery
- Type I - minimal oesophageal function, dilated oesophagus, bird's beak

Type II
- Absence of peristalsis, bird's beak
- Best response to treatment
Type III
- Impaired LOS relaxation but also uncoordinated spastic activity in distal 2/3 of oesophageal body - corkscrew appearance on oesophagram. Swallow results in lumen-obliterating spasms. Chest pain often prominent.
- Endoscopic myotomy preferred

Management
- Goals: treatment is directed at relieving the obstruction in LOS - doesn't address the decreased motility in the oesophageal body - therefore all are palliative
- Outcomes are best in type II achalasia; however, no treatment can fix the underlying issue
- Treatment approach by achalasia subtype
  - Type I and II: myotomy (surgical or POEM), or balloon dilation
  - Type III: POEM (since can do a longer myotomy)
  - If not a surgical candidate can do botox
  - If can't even do botox, medical therapy
- Medical - note these therapies are really only limited to patients who cannot have more invasive techniques
  - Nitrates
    - Isosorbide mononitrate, 5-10mg, 15mins prior to meals
  - CCBs
    - Nifedipine 10-30mg 30mins prior to meals
  - Phosphodiesterase-5 inhibitors
    - Sildenafil
- Endoscopic
  - Botulinum toxin 100U Botox A injected into four quadrants just above Z-line
    - Wears off after three months
    - Response worsens within a year
    - Limited use to patients who are not candidates for pneumatic dilation or Heller myotomy
    - 89% remission at one year with balloon dilatation, compared with 38% with botox
  - Pneumatic dilatation
    - Balloon device (30, 35 or 40mm) placed across LOS and inflated to 7-15psi until waist is fully flattened, and held for 15-60 seconds
    - Graded approach is best
    - Look out for occult perforation - barium swallow if worried
    - GORD happens 15-30% of patients post-dilation - give PPI
    - Frequently requires multiple treatments
  - Per-oral endoscopic myotomy
    - Novel technique
    - Equivalent short-term outcomes to myotomy
    - Divide muscular layer of the distal oesophagus, LOS and cardia. Good results in short-term, but unclear if these will be durable.
      - POEM has also shown good results for sigmoid oesophagus
- Surgical:
  - Modified Heller myotomy - good, durable results
    - 5cm proximal to GOJ, 3cm distal
    - EATI trial - pneumatic dilatation and lap Heller myotomy had roughly equivalent results at two years, although 25% of dilatation patients needed repeat treatments
    - Addition of a partial antireflux procedure (Toupet/Dor) is controversial but probably warranted
  - Oesophagectomy for megaoesophagus, sigmoid oesophagus, failure of more than one myotomy, or reflux stricture not amenable to dilatation
    - Can be a transhiatal oesophagectomy in most patients, but total oesophagectomy with trans-thoracic dissection may be warranted in the setting of mega-oesophagus
- Surveillance
  - Regular gastroscopy recommended to exclude carcinoma

Diffuse oesophageal spasm

- Also known as distal oesophageal spasm
- Epidemiology
  - Uncommon and poorly understood
  - More common in women and those with multiple medical issues
- Presentation
  - Symptoms of chest pain and dysphagia, often related to eating, mimicking angina
    - Often pronounced during times of heightened emotional stress
    - Regurgitation of oesophageal contents and saliva
- Pathophysiology
  - Premature and rapidly propagated contractions in the distal oesophagus
  - Muscular hypertrophy and degeneration of the branches of the vagus
- Dx manometry - repetitive, simultaneous, high amplitude contractions
- Medical treatment is mainstay
  - Start with PPI therapy
  - If no improvement, add peppermint oil before meals as a smooth muscle relaxant
    - ML says doesn't work, but can try Fisherman's Friend
  - Then trial antispasmodic (hyoscyamine) or nitrate
  - Patients with predominant chest pain symptoms who still don't improve could trial TCA (amitriptyline 10-25mg nocte, not PRN, for four weeks)
- Surgical: (if refractory to medical therapy, trial a stepwise intervention approach)
  - Botox
  - Bougie dilatation up to 50 or 60Fr provides relief for severe dysphagia in 70-80% of cases
  - POEM/surgical myotomy
    - Indications for surgery - incapacitating chest pain or dysphagia who have failed medical therapy.
      - Need to release the entire length of the abnormal motility
      - Extend down as far as LOS, but not generally onto the stomach
      - Generally do a Dor fundoplication at the same time to protect against reflux
      - Reportedly improves symptoms in 80%
      - POEM has been reported to have a success rate of 93%

Hypercontractile oesophagus/nutcracker oesophagus/jackhammer oesophagus

- Hypertensive peristalsis or high-amplitude peristaltic contractions
- Also uncommon
- Seen in patients of both genders and all ages
- Presentation: (overall similar to diffuse oesophageal spasm)
  - Most painful motility disorder
  - Chest pain, dysphagia
  - Regurgitation/reflux are uncommon
- Diagnosis
  - Manometry - see below
  - Normal LOS with relaxation
- Treatment
  - Similar to diffuse oesophageal spasm
  - Good early results from POEM

Hypertensive lower oesophageal sphincter

- Also known as oesophago-gastric junction outflow obstruction
- Thought by some to be early achalasia - the difference is that effective peristalsis is present here
- Diagnosis
  - Manometry
  - Barium swallow may show narrowing at GOJ with delayed emptying
- Medical:
  - Not as useful
- Endoscopic:
  - Botox injections - temporary
  - Balloon dilatation - can be longer-term relief
  - Several studies supporting use of POEM
- Surgical
  - Indicated for those with severe symptoms who fail to respond to endoscopic treatments
  - Laparoscopic Heller myotomy
  - Patients with normal oesophageal motility need a partial antireflux procedure too

Ineffective oesophageal motility

- Contraction abnormality of the distal oesophagus
- Usually associated with GORD or scleroderma
- These manometric findings can be seen in 15-20% of 'normal' people
- Could be secondary to chronic inflammation to the oesophageal body
- Symptoms - reflux, dysphagia, regurgitation
- Diagnosis
  - Manometry - >50% of swallows deemed 'ineffective'
  - Barium swallow - nonspecific abnormalities of oesophageal contraction
- Treatment
  - Treat GORD/scleroderma
  - Altered motility appears to be irreversible once it develops
  - Low likelihood of a good result from surgery

Chicago Classification algorithm: