Table I: Symptoms associated with Achalasia Cardia
Studies have emphasized the difficulties in diagnosing achalasia,
especially in young adults, due to its diverse presentation and
resemblance to other esophageal conditions.15 Early
identification remains a challenge as achalasia is rare and is often
diagnosed late. In addition to this, its symptoms are frequently
mistaken for GERD, leading to delayed diagnosis. Misdiagnosis may result
in prolonged symptom duration which necessitates additional diagnostic
assessments.16
The patient in this case study, a 22-year-old woman, had symptoms of
dysphagia and regurgitation. She was initially diagnosed with
gastroesophageal reflux disease and treated with antacid gel and a
proton pump inhibitor for two years , but these treatments did not
alleviate her symptoms. Subsequent tests, including manometry, a barium
esophagogram, and a gastroscopy, suggested a diagnosis of Type II
Achalasia cardia.12 Diagnosis of achalasia relies on
clinical symptoms and imaging studies like barium swallow and esophageal
manometry.8 A barium esophagogram is the best initial
test, showing classic findings such as the ”bird’s beak” appearance,
and esophageal dilation.9 Esophageal manometry is the
most sensitive test and remains the gold standard, with high-resolution
manometry being the preferred method which shows absent
peristalsis.10 Upper GI endoscopy is recommended to
exclude malignancy
The objective of achalasia therapy is to alleviate symptoms by
eliminating outflow resistance, which is caused by the hypertensive and
non-relaxing lower esophageal sphincter (LES).17 Both
non-surgical options like pharmacotherapy and Botox injection, and
surgical techniques such as pneumatic dilation, laparoscopic Heller
myotomy, and per-oral endoscopic myotomy (POEM) are available treatments
for achalasia.11 Only about 10% of patients benefit
from pharmacological treatment and it is typically used in elderly
patients who are not suitable for pneumatic dilatation or surgery.
Endoscopic treatment involves injecting botulinum toxin into the LES to
block acetylcholine release and restore the balance between excitatory
and inhibitory neurotransmitters. However, this treatment has limited
value, and only about 30% of patients experience relief of dysphagia
one year after treatment. Most patients require repeated botulinum toxin
injections.18 Pneumatic dilatation, performed by a
qualified gastroenterologist, is the recommended treatment for sporadic
cases where surgery is not appropriate.19 In our case,
the patient was given the option of pneumatic dilatation or Heller’s
myotomy. She had chosen pneumatic dilatation over Heller’s myotomy. The
PBD procedure commenced with the patient sedated with continuous vital
signs monitoring. After balloon dilation, post-procedure examination
showed improved LES function without significant complications.
The patient showed clinical improvement with relief of dysphagia,
regurgitation, and heartburn symptoms after the treatment and was
discharged. She was advised to adopt lifestyle changes, like eating
small meals while upright to aid food passage by gravity and avoiding
lying flat but instead maintaining an angle of 30 to 45 degrees to
reduce the risk of aspiration. The patient was planned to follow up
after 6 months with upper GI endoscopy and manometry in the outpatient
clinic. Regular endoscopic surveillance is necessary in this case as
there is a risk of transformation to esophageal
carcinoma.20 It’s important to recognize that current
treatments for achalasia are aimed at easing symptoms like
regurgitation, chest pain, and difficulty swallowing, as well as
preventing complications such as megaesophagus, weight loss, and
gastroesophageal reflux disease.21