Related Subjects:
|Achalasia
|American Trypanosomiasis (Chagas Disease)
|Oesophageal Carcinoma
|Diffuse Oesophageal spasm
|Diffuse Oesophageal Perforation - Rupture
|Gastro-Oesophageal Reflux
Lost pleasure with nosh
Chest fills, an audible slosh
Foul fermenting food
Swallow study, contrast squeak
Wide tube tapers to bird’s beak
@DrCindyCooper
Achalasia is a rare and chronic disorder characterized by the degeneration of nerves in the oesophagus, specifically impacting the ganglion cells in the myenteric plexus, leading to disrupted motility and swallowing difficulties.
About
- Achalasia is a primary motility disorder of the oesophagus, affecting the ability to pass food and liquids due to muscle dysfunction.
- In older patients, it is crucial to rule out oesophageal cancer first, as symptoms can overlap.
- The term "Achalasia" is derived from Greek, meaning "fails to relax," which refers to the inability of the lower oesophageal sphincter (LES) to relax during swallowing.
Epidemiology
- Primarily affects individuals between 30 and 60 years but can occur at any age.
- Incidence rate: approximately 1 in 100,000 people annually worldwide.
Aetiology and Pathophysiology
- The Lower Oesophageal Sphincter (LES) fails to relax, leading to reduced oesophageal peristalsis.
- This creates a functional obstruction that prevents the smooth passage of food and liquids into the stomach.
- Loss of ganglionic cells in the myenteric plexus and reduced synthesis of nitric oxide and vasoactive intestinal polypeptide disrupt oesophageal function.
- Nerve degeneration from the vagus nerve can be observed in patients, contributing to the reduced motility.
- Achalasia has similar pathophysiological features to Chagas disease , particularly in endemic areas of South America.
Clinical Features
- Dysphagia to both solids and liquids, often described as a sensation of food “getting stuck” after swallowing.
- Inability to belch effectively, leading to discomfort from gas buildup.
- Patients often drink fluids after eating to help food pass through the LES or use Valsalva-like maneuvers to force food down.
- Symptoms are worse when eating quickly or under stress, and regurgitation of undigested food is common.
- Additional symptoms include chest pain, weight loss, hiccups, and reflux-like symptoms .
Investigations
- Blood tests : FBC, U&E, LFTs, and Glucose to assess general health.
- Chest X-Ray (CXR) : May reveal a wide, dilated esophagus with a fluid level, absence of a fundal gas shadow, or evidence of aspiration pneumonia.
- Barium swallow : Classic "bird's beak" appearance due to narrowing at the LES with dilation above it.
- Oesophageal Manometry : The gold standard for diagnosis; shows elevated LES pressure (> 45 mmHg), failed relaxation, and lack of distal peristalsis.
- Endoscopy : Helps exclude strictures and tumours and confirms oesophageal dilation.
- Serology for Trypanosoma cruzi if the patient has a history of residing in or visiting areas endemic for Chagas disease.
Differential Diagnosis
- Oesophageal cancer : Cancer-related dysphagia initially affects solids more than liquids, while achalasia affects both equally.
- Oesophageal Stricture : Can be benign (e.g., from GERD) or malignant; endoscopy and biopsy can differentiate these.
- Chagas Disease : Common in South America, with serology testing available for diagnosis.
Management
- Medications : Calcium channel blockers (e.g., Nifedipine) or nitrates (e.g., GTN spray) can reduce LES tone, though they often cause side effects like flushing and headache.
- Botulinum toxin injections : Temporarily effective in about 85% of patients by inhibiting acetylcholine release at motor neuron terminals. However, repeat injections may be needed as the effect diminishes over time.
- Endoscopic pneumatic balloon dilation : Used to widen the LES by tearing muscle fibers; carries a risk of perforation.
- Surgical intervention (Heller's myotomy) : A minimally invasive extramucosal cardiomyotomy often combined with fundoplication to prevent reflux, performed via a thoracic or abdominal approach.
- Reflux management : Eating slowly, thorough chewing, drinking water with meals, elevating the head of the bed, and avoiding large meals before bedtime can help alleviate symptoms.
- Cancer surveillance : Long-standing achalasia slightly increases the risk of oesophageal cancer, warranting regular follow-ups.
Complications
- Aspiration pneumonia : A common risk, especially at night, due to regurgitation of food.
- Increased risk of oesophageal squamous carcinoma : Risk is 15 times higher in patients with chronic achalasia.
- Malnutrition and weight loss : Result from prolonged difficulties with food intake.
References