Achalasia Cardia

Botulinum toxin, injected into the lower esophageal sphincter under endoscopic guidance, inhibits acetylcholine release from nerve endings and improves dysphagia in about 66% of cases of achalasia for at least 6 months.

This technique is useful only for temporary relief of symptoms, thus associated with high rate of recurrence.

Ref: Harrison’s Internal Medicine, 18th Edition, Chapter 292

The most likely diagnosis is achalasia.

This condition is a neurogenic esophageal disorder that can occur at any age, but frequently is diagnosed when individuals are between the ages of 20 and 40.

Characteristically, the swallowing difficulties involve both solid food and liquids.

The manometry findings illustrated are typical; There is acute tapering at the lower esophageal sphincter and narrowing at the gastroesophageal junction, producing a “bird’s beak” or “rat’s tail” appearance.

Achalasia cardia is motor disorder of the esophageal smooth muscle in which the LES does not relax normally with swallowing, and esophageal body undergoes nonspecific contractions.

(peristalsis is absent or reduced).

• Neurologic degeneration either idiopathic or due to infection. The degenerative changes are either intrinsic (degeneration of ganglion cells of auerbach’s myenteric plexus) or extrinsic (extraesophageal vagus nerve or the dorsal motor nucleus of vagus nerve)
• Pharmacological studies suggest dysfunction of inhibitory neurons containing nitric oxide and vasoactive intestinal polypeptide in the distal esophagus. The cholinergic innervation of the LES is intact or affected only in advance disease.

Also know:

• Dysphagia more for solid than liquid implies mechanical obstruction (Ca esophagus, stricture, webs)
• Dysphagia equal for both solid and liquid from the very onset suggests motor disorder i.e achalasia and diffuse esophageal spasm.

Ref: Harrison 17/e, Page 239; CMDT 2005, Page 546.

Achalasia is a rare disease caused by loss of ganglion cells within the esophageal myentric plexus.

Patients mostly presents with dysphagia, regurgitation, chest pain and weight loss.

It is diagnosed by barium swallow and esophageal manometry.

Barium swallow shows a beak like appearence.

Esophageal manometry shows impaired lower esophageal sphincter relaxation and absent peristalsis.

Most common surgical procedure for achalasia is Heller’s myotomy performed in conjunction with partial fundoplication.

Achalasia is characterized by impaired lower esophageal sphincter (LES) relaxation and absent peristalsis. Esophageal manometry is the most sensitive test to diagnose achalasia.

Ref: Harrisons Principles of Internal Medicine, 18th Edition, Page 2431

Esophageal manometry, or motility testing, entails positioning a pressure sensing catheter within the esophagus.

Manometry is used to diagnose

1. Motility disorders (achalasia, diffuse esophageal spasm)

2.To assess peristaltic integrity prior to the surgery for reflux disease. 

Esophageal malignancy is not diagnosed with esophageal manometry. Upper GI endoscopy is the effective method for malignancy and biopsy can be taken.

Ref: Harrison, Edition-18,Page-2430

Achalasia is a rare disease 

• It is caused by loss of the ganglion cells within the esophageal myenteric plexus
• With long-standing disease, virtual aganglionosis is noted.
• Pathology: Impaired deglutitive LES relaxation and absent peristalsis.
• It is believed that cause of ganglion cell degeneration in achalasia is an autoimmune process attributable to a latent infection with human herpes simplex virus 1 combined with genetic susceptibility.

Ref: Harrison, Edition-18, Page-2431.

It is believed that cause of ganglion cell degeneration in achalasia is an autoimmune process attributable to a latent infection with human herpes simplex virus 1 combined with genetic susceptibility.

Ref: Harrison, Edition-18, Page-2431.

The differential diagnosis of achalasia are

• DES
• Chagas’ disease
• Pseudoachalasia

Achalasia is diagnosed by barium swallow x-ray, esophageal manometry and rarely with endosc (To exclude pseudoachalasia).

The diagnostic criteria for achalasia with esophageal manometry are impaired LES relaxation and absent peristalsis. High-resolution manometry identifies early disease before esophageal dilatation and food retention, it is the most sensitive diagnostic test.

Ref: Harrison, Edition-18, Page-2431

The only effective therapies for achalasia are pneumatic dilatation and Heller myotomy. Pneumatic dilatation – Efficacy is 32–98%,

• The cylindrical balloon dilator is positioned across the LES and inflated to a diameter of 3–4 cm. The major complication is perforation

Also note:
The most common surgical procedure for achalasia is laparoscopic Heller myotomy, usually performed with an antireflux procedure (partial fundoplication).

Ref: Harrison, Edition-18, Page-2432

Prolonged stasis esophagitis in achalasia is the likely explanation for the association between achalasia and esophageal squamous cell cancer. Squamous cell cancer esophagus risk is increased 17-fold in achalasia cardia.

Ref: Harrison, Edition-18, Page-2432

Ans. is ‘b’ i.e., Achalasia cardia

Achalasia cardia

• Achalasia cardia is a motor disorder of the esophageal smooth muscle, characterized by ‑

1. Aperistalsis

2. Failure of relaxion of the LES with swallowing

3. Increased resting tone of LES

Ans. is ‘a’ i.e., Absence of nerves

o The pathogenesis of Achlasia is poorly understood. It involves –

a Neurogenic degeneration either idiopathic or due to infection. The degenerative changes are either intrinsic (degeneration of ganglion cells of Auerbach’s myentric plexus) or extrinsic (extraesophageal vagus nerve or the dorsal motor nucleus of vagus)

u Pharmacological studies suggest dysfunction of inhibitory neurons containing nitric oxide and vasoactive intestinal polypeptide in the distal esophagus (LES). The cholinergic innervation of the LES is intact or affected only in advanced disease.

Ans. is ‘a’ i.e., Tylosis; ‘b’ i.e., Achalasia & ‘c’ i.e., Barrett’s esophagus

Answer is ‘a’ i.e. Dysphagia is a presenting symptom; ‘b’ i.e. The cause is the absence of Auerbach’

Achalasia

• Achalasia cardia is a motor disorder of the esophageal smooth muscle in which the LES does not relax normally with swallowing, & the esophageal body undergoes nonperistaltic contractions. (Primary peristalsis is absent or reduced)
• The pathogenesis of Achlasia is poorly understood

It involves :

neurogenic degeneration either idiopathic or due to infection. The degenerative changes are either intrinsic (degeneration of ganglion cells of Aurebach’s myentric plexus) or extrinsic (extraesophageal vagus nerve or the dorsal motor nucleus of vagus)

–  Pharmacologic studies suggest dysfunction of inhibitory neurons containing nitric oxide and vasoactive intestinal polypeptide in the distal esophagus (LES). The clolinergic innervation of the LES is intact or affected only in advanced disease.

• As a result of the abnormality, the LES fails to relax, primary peristalsis is absent in esophagus which dilates. As the disease progresses the esophagus becomes massively dilated and tortuous.
• Clinical findings
• Both sexes are equally affected (Ref Maingot’s 10/e, p 846)
• May develop at any age but peak years are from 30 to 60.
• Classical clinical symptom is progressive dysphagia for both solids and liquids. Dysphagia is worsened by emotional stress and hurried eating.
• Regurgitation and Pulmonary aspiration occur because of retention of large volumes of saliva and ingested food in the esophagus.
• Esophagitis with ulceration may occur with chronic retention of food.
• Pain is infrequent in classical achlasia but a variant called vigrous achlasia is characterized by chest pain and esophageal spasms that generate non-propuloine high-pressure waves in the body of the esophagus.
• Diagnosis
• Chest x-ray – shows absence of gastric air bubble, an air-fluid level in the mediastinum in the upright position representing retained food in oesophagus.
• Barium swallow – shows dilated esophagus with tapering narrowing in the terminal end of esophagus described as ‘birds’ beak’ appearance. Fluoroscopy shows loss of normal peristalsis in the lower two thirds of esophagus.
• Endoscopy may be done to rule out any secondary cause of achlasia eg. carcinoma, stricture at LES.
• Manometry
• It’s the most confrmatory investigation
• it is able to distinguish between various forms of motor disorders of esophagus
• Manometric characteristics of Achlasia

Incomplete lower esophageal sphincter relaxation (< 75% relaxation)

Elevated LES pressure

Loss of primary peristaltic waves in the esophageal body, but disorganized muscular activity may be present.

– Increased intraesophageal baseline pressure relative to gastric baseline.

• Cholecystokinin (CCK) which normally causes a fall in the sphincter pressure, paradoxically causes contraction of the LES (the CCK test). This paradoxical response occurs because, in achlasia the neurally transmitted inhibitory effect of CCK is absent owing to the loss of inhibitory neurons.
• Also know

Schwartz writes- “Although complete absence of peristalsis in the esophageal body has been proposed as the major abnormality, present evidence indicates achlasia is a primary disorder of the LES”. The LES fails to relax on deglutition, elevation of intraluminal esophageal pressure esophageal dilatation subsequent loss of primary peristalsis in the body of esophagus.

Other options are described ahead.

Ans is ‘c’ i.e. increased primary peristaltic waves in the esophagus 

• Manometry is the most confirmatory investigation for achalasia
• Manometric characteristics of Achlasia
• Incomplete lower esophageal sphincter relaxation (< 75% relaxation)

  Elevated LES pressure

  Loss of primary peristaltic waves in the esophageal body, but disorganized muscular activity may be present. Increased intraesophageal baseline pressure relative to gastric baseline.

  About option ‘d’

  Increased risk of esophageal cancer

  Patients with achalasia are generally thought to be at increased risk for developing esophageal cancer, which is typically squamous cell type, although studies have also shown an increased risk of esophageal adenocarcinoma. (but some studies have shown no increased risk.)
  Risk is not high enough to advice routine endoscopy in achalasia patients. A guideline issued by the American Society of Gastrointestinal Endoscopy suggests that there are insufficient data to support routine endoscopic surveillance for patients with achalasia. If surveillance were to be considered, it would be reasonable to initiate it 15 years after onset of symptoms
  

Answer is ‘a’ i.e. Pressure at distal end 1st with no peristalsis 

• As already explained in previous question, the pressure is elevated at LES with incomplete relaxation on deglutition. The normal pressure of LES is 13.8 ±4.6 of Hg. In Achlasia it increases to twice normal.

Also know

Hypertensive Lower esophageal sphincter

–  is another motor disorder distinct from Achalsia

– here the LES pressure is elevated but it relaxes normally. Peristalsis in the esophageal body is also.

Ans.is ‘a’ i.e. Achalasia cardia 

Ans. is ‘b’ i.e. Achalasia Cardia 

• Achalasia means “failure to relax”.
• Barium radiology may show hold-up in the distal esophagus, abnormal contractions in the esophageal body and a tapering stricture in the distal esophagus often described as a “birds beak”, “Pencil-tip” or “Rat’s tail”  appearance.

Ans. i.e., ‘a’ (Mostly in women )

Ans. is ‘a’ i.e., Nefedipine 

Ans. is ‘d’ ie., All of the above 

Ans. is ‘b’ i.e. Achalasia cardia 

Ans. is ‘d’ i.e., Filling defect  on Barium study .

Achalasia

• It is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES) in response to swallowing.
  • The cause of most cases of achalasia is unknown. LES pressure and relaxation are regulated by excitatory (e.g., acetylcholine, substance P) and inhibitory (e.g., nitric oxide, vasoactive intestinal peptide) neurotransmitters. People with achalasia lack noradrenergic, noncholinergic, inhibitory ganglion cells, causing an imbalance in excitatory and inhibitory neurotransmission. The result is a hypertensive nonrelaxed esophageal sphincter.
• Signs and symptoms
  • The main symptoms of achalasia are dysphagia (difficulty in swallowing), regurgitation of undigested food, chest pain behind the sternum, and weight loss.
  • Dysphagia tends to become progressively worse over time and to involve both fluids and solids.
• Diagnosis
  • Barium swallow: There is acute tapering at the lower esophageal sphincter and narrowing at the gastro-esophageal junction, producing a “bird’s beak” or “rat’s tail” appearance. The esophagus above the narrowing is often dilated (enlarged) to varying degrees as the esophagus is gradually stretched over time.
  • Esophageal manometry (the criterion standard): Incomplete LES relaxation in response to swallowing, high resting LES pressure, absent esophageal peristalsis.
    • Characteristic manometric findings are:
      • Lower esophageal sphincter (LES) fails to relax upon wet swallow (
      • Pressure of LES100 is considered achalasia, > 200 is nutcracker achalasia.
      • Aperistalsis in esophageal body
      • Relative increase in intra-esophageal pressure as compared with intra-gastric pressure
• Management.
  • Pharmacologic and other nonsurgical treatments include the following:
    • Administration of calcium channel blockers and nitrates decrease LES pressure (primarily in elderly patients who cannot undergo pneumatic dilatation or surgery)
    • Endoscopic intrasphincteric injection of botulinum toxin to block acetylcholine release at the level of the LES (mainly in elderly patients who are poor candidates for dilatation or surgery)
  • Surgical treatment includes the following:
    • Laparoscopic Heller myotomy, preferably with anterior (Dor; more common) or posterior (Toupet) partial fundoplication
    • Peroral endoscopic myotomy

Ans. is ‘d’ i.e., Exaggerated peristalsis 

• The findings may vary, depending on the advanced nature of the disease.
• The esophagram will show a dilated esophagus with a distal narrowing referred to as the classic bird’s beak appearance of the barium-filled esophagus.
• A lack of peristaltic waves in the body and failure of relaxation of the LES are noted.
• The gastric gas bubble is usually absent.

Ans. is ‘b’ i.e., Achalasia cardia

Amyl nitrite inhalation is used to distinguish patients of achalasia from those with pseudoachalasia.

Pseudoachalasia of the esophagus, is caused by tumor infiltration of the distal esophagus, and closely simulates the esophageal motor and morphologic abnormalities of achalasia.

Amyl nitrite inhalation causes relaxation of lower esophageal sphincter in achalasia. In contrast, amyl nitrite does not relax the LES segment in pseudoachalasia.

Ans. is ‘d’ i.e., Achalasia cardia 

Answer is C (Achalasia Cardia)

Carcinoma Esophagus, lower esophagus ring and esophageal stricture are all associated with dysphagia for solids alone.

Presence of dysphagia for both solids and liquids suggests a diagnosis of Achalasia cardia.

Although dysphagia in Achalasia is progressive absence of progression does not exclude the diagnosis. Also amongst the options provided Achalasia is the single best answer of exclusion.

Answer is C (Pharyngeal diverticulum)

Progressive

• Achalasia
• Progressive systemic sclerosis
• Peptic stricture
• Carcinoma

Intermittent

• Lower esophageal ring/Spatzki ring
• Diffuse esophageal spasm
• Zenker’s diverticulum

Answer is A & B (Dysphagia is the presenting symptom) and (The cause is the absence of Auerbach’s plexus)

Dysphagia is the most common presenting symptom of Achalasia which is believed to be caused by degeneration of the ,^Itlyenteric plexus of Auerbach

Esophagectomy is not used in the treatment

The surgical treatment of Achalasia is Heller’s myotomy and not Esophazectomv.

Medications that relax the tone of Lower Esophageal Sphincter are used in the treatment.

Barium swallow shows a dilated sigmoid esophagus and persistent beak like narrowing of distal esophagus. Irregular filling defects in lower esophageal suggests esophageal carcinoma and not Achalasia.

Achalasia Cardia (Primary esophageal motility disorder) Physiological Characteristic

• Absence of esophageal peristalsis
• Increased pressure of LES
• Failure of LES to relax in response to swallowing  Pathogenesis
• True etiology unknown
• Degeneration of Myenteric plexus of Aurerbach’s with loss of postganglionic inhibitory neurons is noted (These neurons contain NO and VIP which mediate LEs relaxation)
• Sparing of postganglionic cholinergic fibres (Increased Les resting pressure and insufficient relaxation)

Presentation

• Dysphagia is the most common symptom
• Dysphagia is present for both solids and liquids and is progressive
• Regurgitation is the second most common symptom
• Chest pain may also occur

Investigations

• Esophageal Manometry is the key test in establishing the diagnosis
• Barium swallow should be the initial test performed

Diagnosis suggested by:

Dilated sigmoid oesophagus

Persistant beak like narrowing of distal oesophagus

Complications

Achalasia is a risk factor for Esophageal carcinomas

Achalasia predisposes to squamous cell carcinomas 

Treatment

Laparoscopic Heller’s mvotomye and partial fundoplication is the procedure of choice Non surgical treatment includes medications that reduces LES pressure

–     Intrasphinteric injection of botulinum toxin and/or

–     Pneumatic dilatation

Answer is A (Pressure at distal end increased with no peristalsis):

Achalasia is characterized by an increased pressure of LES and absence of esophageal peristalsis.

Physiological /Manometric features of Achalasia

• Elevated Resting pressure of LES (>45 mmHg)Q
• Incomplete LES relaxation (in response to swallowing)Q
• Absence of distal esophageal peristalsis

Ans. C i.e. Achalasia cardia

Ans: C, Decreased lower oesophageal sphincter tone

Achalasia cardia

• Barium radiology may show a tapering stricture in the distal oesophagus, often described as a ‘bird’s beak’. The gastric bubble is usually absent.
• The physiological abnormalities in achalsia cardia are non-relaxing LOS (lower oesophageal sphincter) and absent peristalsis in the body of the oesophagus.

Ans. C: Achalasia cardia

Achalasia is associated with loss of ganglion cells in the esophageal myenteric plexus.

These important inhibitory neurons induce LES relaxation and coordinate proximal-to-distal peristaltic contraction of the esophagus

Achalasia is an esophageal motor disorder characterized by increased lower esophageal sphincter (LES) pressure, diminished-to-absent peristalsis in the distal portion of the esophagus composed of smooth muscle, and lack of a coordinated LES relaxation in response to swallowing.

Barium radiology may show ‘bird’s beak’ appearance.

Esophageal (Heller) myotomy is a surgical procedure that is performed with minimally invasive techniques. The laparoscopic approach appears to be most appropriate.

Ans. Achalasia cardia