Achalasia

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Introduction

Achalasia is a chronic, progressive condition that impairs the function of the lower oesophageal sphincter (LES)—the muscle that allows food to pass from the oesophagus into the stomach. When this muscle fails to relax properly, food and liquids become trapped in the oesophagus, leading to swallowing difficulties and other complications.

Although achalasia is considered rare, it has significant implications for quality of life. It can be misdiagnosed as gastroesophageal reflux disease (GERD) or other swallowing disorders. Early recognition and proper treatment are essential for effective management.

What is Achalasia?

Achalasia is a motility disorder where the nerves in the oesophagus degenerate, particularly those that control the LES. As a result, the sphincter remains closed during swallowing, and the muscles in the oesophagus fail to contract normally.

The condition leads to symptoms like difficulty swallowing (dysphagia), regurgitation of food, chest pain, and weight loss. Achalasia is progressive and often worsens over time, requiring intervention for symptom relief.

Prevalence

India

In India, achalasia is underdiagnosed, but studies suggest an incidence of about 1.5 to 2 cases per 100,000 people per year. The condition is often identified late due to limited awareness and access to diagnostic facilities in some regions.

Worldwide

Globally, achalasia has an estimated prevalence of 10 to 15 cases per 100,000 individuals. It affects both genders equally and typically appears between the ages of 25 and 60.

Types of Achalasia

  • Type I (Classic Achalasia): Minimal oesophageal pressurisation with incomplete LES relaxation.
  • Type II: Pan-oesophageal pressurisation with preserved peristalsis.
  • Type III (Spastic Achalasia): Spasms or premature contractions in the lower oesophagu

Type II is the most common and typically responds best to treatment.


 

Causes of Achalasia

While the exact cause of achalasia remains unknown, several contributing factors include:

  • Degeneration of Nerves: Loss of nerve cells in the oesophageal wall.
  • Autoimmune Response: The body may attack its own nerve tissue.
  • Genetic Factors: Some evidence suggests a genetic predisposition.
  • Infections: Certain viral infections may trigger the disease in genetically susceptible individuals.

Secondary achalasia can occur due to conditions like Chagas disease or oesophageal cancer.

Symptoms of Achalasia

  • Dysphagia: Difficulty swallowing solids and liquids.
  • Regurgitation: Food and saliva may come back up.
  • Chest Pain: Especially after eating.
  • Weight Loss: Due to reduced food intake.
  • Heartburn: Mimics symptoms of GERD.
  • Coughing or Choking: Particularly during sleep.

Symptoms may start subtly and progressively worsen, often prompting misdiagnosis.

Diagnosis of Achalasia

  • Barium Swallow: Reveals a classic "bird-beak" narrowing of the lower oesophagus.
  • Oesophageal Manometry: Measures pressure and muscle coordination.
  • Upper Endoscopy (EGD): Rules out cancer and structural abnormalities.
  • High-Resolution Manometry (HRM): The most accurate test for classifying achalasia subtypes.

Accurate diagnosis is critical to guide appropriate treatment and avoid complications.

Treatment of Achalasia

There is no permanent cure, but treatments aim to relieve symptoms by relaxing or disrupting the LES.

Medications

  • Nitrates (e.g., isosorbide dinitrate): Lower LES pressure temporarily. (Sorbitate 5mg Tablet)
  • Calcium Channel Blockers (e.g., nifedipine): Reduce muscle tightness. (Adalat 20mg Capsule)
  • Botulinum Toxin (Botox): Injected into the LES to paralyse the muscle. Offers temporary relief.

Non-Surgical Treatments

  • Pneumatic Dilation: A balloon is used to widen the LES. May require multiple sessions.

Surgical Treatments

  • Heller Myotomy: A minimally invasive surgery to cut the LES muscle. Often combined with anti-reflux surgery.
  • Peroral Endoscopic Myotomy (POEM): A newer, less invasive endoscopic approach with promising results

Nutritional Support

Patients may require dietary adjustments or nutritional supplements in severe cases of malnutrition.

Alternative Therapies

While alternative therapies do not replace medical treatment, supportive measures include:

  • Acupuncture: May help relieve chest discomfort and improve digestion.
  • Yoga and Breathing Exercises: Can support relaxation and stress relief.
  • Nutritional Counselling: For better food choices that minimise symptoms.

Always consult a doctor before starting any complementary therapy.

Risk Factors

  • Age: Most common between ages 25–60.
  • Family History: Rare familial cases reported.
  • Autoimmune Disorders: May increase susceptibility.
  • Infections: Possible link with viral infections.

Complications

If untreated, achalasia can lead to:

  • Oesophageal Dilation: Resulting in a "mega-oesophagus"
  • Aspiration Pneumonia: Due to food entering the lungs.
  • Malnutrition: From poor food intake.
  • Increased Risk of Oesophageal Cancer: Especially squamous cell carcinoma.

Regular follow-ups are essential to monitor for complications.

Tips to Live with Achalasia

  • Eat Smaller, Frequent Meals: Reduces strain on the oesophagus.
  • Chew Thoroughly: Facilitates smoother swallowing.
  • Elevate the Head While Sleeping: Prevents regurgitation.
  • Avoid Cold or Carbonated Drinks: They may exacerbate symptoms.
  • Join Support Groups: Sharing experiences helps emotional well-being.

Dietary guidance and emotional support are vital aspects of long-term care.

Common Misconceptions About This Condition

  • "It’s just reflux": It may mimic GERD but requires different treatment.
  • "It’s caused by stress": While stress can worsen symptoms, it’s not the cause.
  • "Surgery always cures it": Surgery relieves symptoms but doesn’t cure the underlying disease.
  • "You can’t eat at all": With proper management, many patients eat a near-normal die

Education helps patients understand and navigate their condition better.


 

When to See a Doctor

  • Trouble swallowing liquids or solids
  • Unexplained weight loss
  • Chest pain not linked to heart issues
  • Persistent regurgitation

Early intervention improves both symptom control and quality of life.

Questions to Ask Your Doctor

  • What type of achalasia do I have?
  • What are the best treatment options for me?
  • Will I need surgery?
  • What are the risks of treatment?
  • How can I manage symptoms at home?
  • Will this condition worsen over time?
  • Are there long-term risks like cancer?

How to Support Someone Dealing with Achalasia

  • Educate Yourself: Learn about the disease.
  • Be Patient: Eating can be slow or frustrating.
  • Encourage Medical Care: Help with appointments.
  • Support Dietary Needs: Help prepare suitable meals.
  • Listen and Offer Emotional Support: Empathy goes a long way.

Small gestures of understanding can significantly ease the emotional burden.

Conclusion

Achalasia is a rare but impactful disease that requires a comprehensive treatment plan involving medications, dietary management, and in some cases, surgery. With proper care, patients can lead a relatively normal life. Increased awareness, early diagnosis, and effective support systems are key to improving outcomes.

FAQs

Is achalasia curable?

No, but symptoms can be managed effectively.

What is the best treatment for achalasia?

Options include POEM, Heller myotomy, pneumatic dilation, and medication.

Can achalasia lead to cancer?

Yes, long-term untreated achalasia increases cancer risk.

Is achalasia a genetic disorder?

Mostly sporadic, but rare familial cases exist.

How is achalasia different from GERD?

Achalasia involves failed LES relaxation; GERD involves LES weakness.
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