Living with Achalasia

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Achalasia can be defined as the lack of the lower esophageal sphincter to relax and the presence of abnormal motility in the remainder of the esophagus.

It is a rare disorder that makes it difficult for food and liquid to pass into your stomach.

Achalasia occurs when nerves in the tube connecting your mouth and stomach (esophagus) become damaged. As a result, the esophagus loses the ability to squeeze food down, and the muscular valve between the esophagus and stomach (lower esophageal sphincter) doesn't fully relax — making it difficult for food to pass into your stomach.

The cause of achalasia is unknown. However, there are theories on causation invoke infection, heredity or an abnormality of the immune system that causes the body itself to damage the esophagus (autoimmune disease).

Types of Achalasia

According to the manometry test, achalasia has 3 types:

• Achalasia Type I: This type shows no motility in the esophagus and the presence of a high-pressure band near the lower esophageal sphincter level.
• Achalasia Type II: Type II reveals the lower esophageal sphincter as always non-relaxed and simultaneous contractions while a person swallows.
• Achalasia Type III: The 3rd type of Achalasia is typically denoted by high-pressure spasms in the esophagus.

The esophagus contains both muscles and nerves. The nerves coordinate the relaxation and opening of the sphincters as well as the peristaltic waves in the body of the esophagus. Achalasia has effects on both the muscles and nerves of the esophagus; however, the effects on the nerves are believed to be the most important. Early in achalasia, inflammation can be seen (when examined under the microscope) in the muscle of the lower esophagus, especially around the nerves. As the disease progresses, the nerves begin to degenerate and ultimately disappear, particularly the nerves that cause the lower esophageal sphincter to relax. Still later in the progression of the disease, muscle cells begin to degenerate, possibly because of the damage to the nerves. The result of these changes is a lower sphincter that cannot relax and muscle in the lower esophageal body that cannot support peristaltic waves. With time, the body of the esophagus stretches and becomes enlarged (dilated).

A few patients with achalasia have high-pressure waves in the lower esophageal body following swallows, but these high-pressure waves are not effective in pushing food into the stomach. These patients are referred to as having "vigorous" achalasia. These abnormalities of the lower sphincter and esophageal body are responsible for food sticking in the esophagus.

Common symptoms of achalasia

• Difficulty in swallowing, dysphagia
• A feeling of discomfort or pain right after eating. This chest pain, also known as cardio-spasm, is often mistaken for a heart attack and can be extremely painful to some suffers.
• Heart Burn, regurgitation of food and liquids sometime accompanied with blood.
• Weight and Hair loss.
• Dysphagia tends to become progressively worse over time and to involve both fluids and solids.
• Some people may also experience coughing when lying in a horizontal position. A few other illnesses, such esophageal cancer or cancer of upper stomach, and Chagas disease, can cause similar problems in the esophagus. Only, correct diagnosis can differentiate achalasia from these diseases.

Achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired lower esophageal sphincter (LES) relaxation in response to swallowing. The LES is hypertensive in about 50% of patients. These abnormalities cause a functional obstruction at the gastroesophageal junction. See the images below.

Tests for achalasia

• Esophageal manometry. This test measures the rhythmic muscle contractions in your esophagus when you swallow, the coordination and force exerted by the esophagus muscles, and how well your lower esophageal sphincter relaxes or opens during a swallow.
  • Manometric evaluation of the esophagus in a patient with achalasia. Pertinent findings include absence of propulsive peristalsis in the body of the esophagus (note simultaneous contractions), elevated resting lower esophageal sphincter (LES) pressure, and the absence of LES relaxation.
• X-rays of your upper digestive system. X-rays are taken after you drink a chalky liquid that coats and fills the inside lining of your digestive tract. The coating allows your doctor to see a silhouette of your esophagus, stomach and upper intestine. You may also be asked to swallow a barium pill that can help to show a blockage of the esophagus.
  • Barium swallow demonstrating the bird-beak appearance of the lower esophagus, dilatation of the esophagus, and stasis of barium in the esophagus.
• Upper endoscopy. Your doctor inserts a thin, flexible tube equipped with a light and camera (endoscope) down your throat, to examine the inside of your esophagus and stomach. Endoscopy can be used to define a partial blockage of the esophagus if your symptoms or results of a barium study indicate that possibility.

Treatment

There's no cure for achalasia. But symptoms can usually be managed with minimally invasive therapy or surgery which focuses on relaxing or forcing open the lower esophageal sphincter so that food and liquid can move more easily through your digestive tract.

Nonsurgical options include

• Making Lifestyle changes. Both before and after treatment, achalasia patients may need to eat slowly, chew very well, drink plenty of water with meals, and avoid eating near bedtime. Raising the head off the bed or sleeping with a wedge pillow promotes emptying of the esophagus by gravity. After surgery or pneumatic dilatation, proton pump inhibitors are required to prevent reflux damage by inhibiting gastric acid secretion, and foods that can aggravate reflux, including ketchup, citrus, chocolate, alcohol, and caffeine, may need to be avoided.
• Pneumatic dilation. A balloon is inserted into the esophageal sphincter and inflated to enlarge the opening. This outpatient procedure may need to be repeated if the esophageal sphincter doesn't stay open. Nearly one-third of people treated with balloon dilation need repeat treatment within six years.
• Botox (botulinum toxin type A). This muscle relaxant can be injected directly into the esophageal sphincter with an endoscope. The injections may need to be repeated, and repeat injections may make it more difficult to perform surgery later if needed. Botox is generally recommended only for people who aren't good candidates for pneumatic dilation or surgery due to age or overall health.
• Medication. Your doctor might suggest muscle relaxants such as nitroglycerin (Nitrostat) or nifedipine (Procardia) before eating. These medications have limited treatment effect and severe side effects. Medications are generally considered only if you're not a candidate for pneumatic dilation or surgery, and Botox hasn't helped.

Surgical options include

Surgery may be recommended for younger people because nonsurgical treatment tends to be less effective in this group. Specific treatment depends on your age and the severity of the condition.
Surgical options include:

• Heller myotomy. The surgeon cuts the muscle at the lower end of the esophageal sphincter to allow food to pass more easily into the stomach. The procedure can be done noninvasively (laparoscopic Heller myotomy). People who have a Heller myotomy may later develop gastroesophageal reflux disease (GERD).
• Fundoplication. The surgeon wraps the top of your stomach around the lower esophageal sphincter, to tighten the muscle and prevent acid reflux. Fundoplication might be performed at the same time as Heller myotomy, to avoid future problems with acid reflux. Fundoplication is usually done with a minimally invasive (laparoscopic) procedure.
• Peroral endoscopic myotomy (POEM). The surgeon uses an endoscope inserted through your mouth and down your throat to create an incision in the inside lining of your esophagus. Then, as in a Heller myotomy, the surgeon cuts the muscle at the lower end of the esophageal sphincter. POEM doesn't include an anti-reflux procedure.

History

Sir Thomas Willis described achalasia in 1672. In 1881, von Mikulicz described the disease as a cardio spasm to indicate that the symptoms were due to a functional problem rather than a mechanical one. In 1929, Hurt and Rake realized that the disease was caused by a failure of the lower esophageal sphincter (LES) to relax. They coined the term achalasia, meaning failure to relax.

Etiology

There is some evidence that achalasia is an autoimmune disease. A European study compared immune-related deoxyribonucleic acid (DNA) in persons with achalasia with that of controls and found 33 single-nucleotide polymorphisms (SNPs) associated with achalasia. All of the were found in the major histocompatibility complex region of chromosome 6, a location associated with autoimmune disorders such as multiple sclerosis, lupus, and type 1 diabetes.

Epidemiology

• Incidence of achalasia has risen to approximately 1.6 per 100,000 in some populations.
• Disease affects mostly adults between ages 30s and 50s.
• The incidence of esophageal dysmotility appears to increased in patients with spinal cord injury (SCI).
• In a study of 12 patients with paraplegia (level of injury between T4-T12), 13 patients with tetraplegia (level of injury between C5-C7), and 14 able-bodied individuals, Radulovic et al found 21 of the 25 patients (84%) with SCI had at least one esophageal motility anomaly compared to 1 of 14 able-bodied subjects (7%). Among the anomalies seen in SCI patients were type II achalasia (12%), type III achalasia (4%), esophagogastric junction outflow obstruction (20%), hypercontractile esophagus (4%), and peristaltic abnormalities (weak peristalsis with small or large defects or frequent failed peristalsis) (48%}.
• Altered esophageal motility is sometimes seen in patients with anorexia nervosa. It is also seen in patients following eradication of esophageal varices by endoscopic sclerotherapy, in association with an increased number of endoscopic sessions but not with manometric parameters. Features of esophageal motility after endoscopic sclerotherapy are a defective lower sphincter and defective and hypotensive peristalsis.
• In a retrospective study (1990-2013) from the Netherlands, the mean incidence of achalasia in children was 0.1 per 100,000 people per year.
• Relapse rates after the initial treatment were higher in those who underwent pneumodilation (79%) than Heller myotomy (21%), but complication were occurred more often following Heller myotomy (55.6%) than with pneumodilation (1.5%).
• Sex- and age-related demographics: The male-to-female ratio of achalasia is 1:1.
• Achalasia typically occurs in adults aged 25-60 years. Less than 5% of cases occur in children.

Notables with achalasia

• There are none at this time (5/2018), please feel free to add if you locate anyone.

References and Additional Reading

• Mayo Clinic - Achalasia Overview
• Medicine Net - Achalasia
• Mayo Clinic - Upper endoscopy
• ePainAssist - Achalasia: Types, Symptoms, Causes, Treatment, Diet, Diagnosis, Prevention. Reviewed by: Pramod Kerkar, MD, FFARCSI
• Mayo Clinic - Esophageal manometry
• Guideline for diagnosis and management of achalasia
• Wikiipedia - Achalasia
• Achalasia: A review of clinical diagnosis, epidemiology, treatment and outcomes.