achalasia

Achalasia: A Rare Swallowing Disorder

Achalasia is a rare and complex swallowing disorder that affects the esophagus, the muscular tube that carries food from the mouth to the stomach. The condition is characterized by difficulty in moving food and liquids down into the stomach due to a failure of relaxation of the lower esophageal sphincter (LES) [3][4].

Key Features

• Difficulty swallowing food and liquids, leading to weight loss and other complications [1][2]
• Failure of the muscles in the esophagus to relax, preventing food from moving into the stomach [13]
• Reduced or absent muscle activity of the esophagus (peristalsis) [14]
• Marked dilatation of the esophagus due to obstruction of the distal end [12]

Causes and Symptoms

Achalasia is a rare disorder that affects about 1 in every 100,000 people [4]. The exact cause of achalasia is unknown, but it is believed to be related to a failure of relaxation of the lower esophageal sphincter (LES) [3][14].

The major symptom of achalasia is usually difficulty swallowing food and liquids, which can lead to weight loss and other complications [1][2]. Other symptoms may include chest pain, regurgitation of food, and shortness of breath.

History

Achalasia was first described by Sir Thomas Willis in 1672, and later referred to as cardiospasm by von Mikulicz in 1881 [5].

Treatment Options

While there is no cure for achalasia, various treatment options are available to manage the symptoms and improve quality of life. These may include medications, dilation therapy, and surgery.

Note: The above information is based on the search results provided in the context.

Achalasia is a rare digestive disorder that affects the muscles in the esophagus, preventing food and drink from moving into the stomach. The main clinical manifestations of achalasia include:

• Difficulty swallowing (dysphagia): This is one of the most common symptoms of achalasia, where people have trouble swallowing food and liquids [1][2].
• Food piling up: As a result of difficulty swallowing, food can accumulate in the esophagus, leading to regurgitation of undigested food and liquids [3][4].
• Regurgitation of undigested food and liquids: This is another common symptom of achalasia, where people experience frequent regurgitation of undigested food and liquids [5][6].
• Chest pain or heartburn: People with achalasia may also experience chest pain or heartburn due to the accumulation of food in the esophagus [7][8].
• Weight loss: Untreated achalasia can lead to significant weight loss due to difficulty swallowing and regurgitation of food [9].

Other symptoms of achalasia may include:

• Choking and coughing fits: People with achalasia may experience choking and coughing fits when trying to swallow food or liquids [10].
• Heartburn: Heartburn is another symptom that people with achalasia may experience due to the accumulation of food in the esophagus [11].
• Repeated chest infections: Untreated achalasia can lead to repeated chest infections, which can further worsen the symptoms [12].

It's worth noting that early signs of achalasia may only include difficulty swallowing and chest pain that may come and go. However, other early symptoms may also include dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) [13].

Diagnostic Tests for Achalasia

Achalasia, a rare digestive disorder, can be diagnosed using several tests that help identify the condition and rule out other possible causes. The diagnostic process typically involves a combination of medical history, physical examination, and specialized testing.

Common Diagnostic Tests:

• Esophageal Manometry: This is considered the gold standard test for diagnosing achalasia. It measures the pressure and movement of food through the esophagus, revealing abnormalities in people with achalasia [1][2].
• Barium Esophagram: A barium swallow study can also diagnose achalasia by showing a dilated esophagus and bird beaking on the X-ray image [12][13].
• Upper Endoscopy: This test allows doctors to visually examine the upper digestive tract, including the esophagus, stomach, and duodenum. It may reveal retained saliva or other signs of achalasia [4][5].

Other Diagnostic Tests:

• High-Resolution Esophageal Manometry: This advanced manometry test measures pressure changes in the esophagus with high precision, helping to confirm a diagnosis of achalasia [3][10].
• 24-Hour Reflux Monitoring: This test can help identify gastroesophageal reflux disease (GERD) or other conditions that may be contributing to symptoms [3].

Important Diagnostic Clues:

• Retained saliva with a puckered gastroesophageal junction on endoscopy
• A dilated esophagus with bird beaking on barium swallow
• Elevated integrated relaxation pressure and 100% failed peristalsis on manometry

These diagnostic tests, combined with a thorough medical history and physical examination, can help doctors accurately diagnose achalasia and develop an effective treatment plan.

References:

[1] May 17, 2024 - Manometry is almost always used to confirm the diagnosis of achalasia. [2] To diagnose achalasia, our doctors obtain information about your medical history and conduct a physical exam. In addition, they perform an esophageal high-resolution manometry—the gold standard test to diagnose achalasia—as well as other diagnostic tests. [3] July 10, 2024 - We use the latest technology to help diagnose achalasia and assess your unique needs. Our experienced physicians offer many types of diagnostic tests, including high-resolution esophageal manometry, 24-hour reflux monitoring, EndoFlip, and barium esophagram studies. [4] Achalasia patients are also often ... relies basically on three well-established, and often complementary tests: upper endoscopy, barium esophagogram, and (high-resolution) manometry.... [5] In addition to a thorough physical examination and review of your medical history and symptoms, your doctor may recommend the following tests to help diagnose achalasia. Pharyngeal and esophageal manometry to measure and record changes in pressure. [10] May 16, 2022 - Endoscopy, barium esophagram, and esophageal manometry are well-established tests that can diagnose achalasia. [12] by II Momodu · 2023 · Cited by 6 — When there is clinical suspicion for achalasia, diagnostic ... The best initial test to diagnose achalasia is a barium esophagogram (barium ...).

Treatment Options for Achalasia

Achalasia, a rare digestive disorder, can be managed through various treatment options. The primary goal of drug therapy is to relax the muscles of the lower esophageal sphincter (LES), allowing food and liquid to pass more easily into the stomach.

• Nitrates: These medications are commonly used for chest pain as they dilate heart arteries. However, in people with achalasia, nitrates can relax the LES muscles, facilitating easier passage of food and liquids into the stomach [2][4].
• Calcium Channel Blockers: This class of drugs also has LES muscle-relaxing effects, which can decrease symptoms of achalasia [3]. They work by relaxing the smooth muscle in the esophagus.
• Botulinum Toxin Injections: These injections numb the sphincter and surrounding nerves, allowing it to relax. The effect is temporary, lasting about one year, and may require repeating injections [6][7].

Other Medications

In addition to nitrates and calcium channel blockers, other medications like nifedipine (Procardia XL, Adalat CC) or isosorbide (Imdur, Monoket) can be used to relax the spastic muscles in the esophagus [12]. These treatments aim to alleviate symptoms and improve quality of life for individuals with achalasia.

References

• [1] Zaninotto G, Annese V, Costantini M, et al. Randomized controlled trial of botulinum toxin versus laparoscopic heller myotomy for esophageal ...
• [2] Nitrates, which are usually given for chest pain because they dilate, or open, heart arteries, may be another option. For people with achalasia, these medications relax the muscles of the lower esophageal sphincter, allowing food and liquid to pass more easily into the stomach.
• [3] May 17, 2024 — Drug therapy — Two classes of drugs, nitrates and calcium channel blockers, have LES muscle-relaxing effects. These drugs can decrease symptoms ...
• [4] November 13, 2023 - Botulinum toxin versus pneumatic dilatation in the treatment of achalasia: a randomised trial. Gut. Feb 1999. 44(2):231-9. [QxMD MEDLINE Link]. [Full Text].
• [5] Treatments include: Botox injection: ... from three months to a year. Medication: Two commonly used medications to treat achalasia are calcium channel blockers and nitrates.
• [6] Apr 6, 2021 — Other medication treatments include nifedipine (Procardia XL®, Adalat CC®) or isosorbide (Imdur®, Monoket®). These medications relax the spastic ...
• [7] July 31, 2023 - Achalasia is not a common disorder in medicine. Most clinicians will not encounter a patient with this esophageal smooth muscle motility disorder, which occurs because the lower esophageal sphincter fails to relax[1]. The esophagus also has a marked absence of peristalsis[2]. In less than 50% ...

Differential Diagnosis of Achalasia

Achalasia, a rare esophageal disorder characterized by impaired relaxation of the lower esophageal sphincter and absence of peristalsis in the esophagus, requires careful differential diagnosis to rule out other conditions that may present with similar symptoms.

Conditions to Consider:

• Chagas disease: A parasitic infection caused by Trypanosoma cruzi that can lead to achalasia-like symptoms.
• Pseudoachalasia: A condition caused by tumors or lesions at the gastroesophageal junction, which can mimic the symptoms of achalasia.
• Esophagogastric junction obstruction: A condition where the esophagus and stomach are blocked, leading to similar symptoms as achalasia.
• Scleroderma: An autoimmune disease that can cause esophageal dysfunction and mimic the symptoms of achalasia.
• Gastroesophageal reflux disease (GERD): A condition where stomach acid flows back into the esophagus, causing heartburn and regurgitation, which can be mistaken for achalasia.
• Esophageal spasm: A condition characterized by abnormal muscle contractions in the esophagus, leading to chest pain and difficulty swallowing.
• Hiatal hernia: A condition where the stomach bulges into the chest through an opening in the diaphragm, which can cause symptoms similar to achalasia.
• Schatzki ring: A small ring of tissue that can narrow the esophagus and cause difficulty swallowing.
• Eosinophilic esophagitis: An allergic condition where eosinophils accumulate in the esophageal lining, leading to difficulty swallowing.

Key Points:

• Achalasia is a rare disorder, and most clinicians will not encounter a patient with this condition [2].
• The differential diagnosis of achalasia includes several conditions that can present with similar symptoms, making accurate diagnosis crucial.
• High-resolution manometry (HRM), endoscopy, and barium meal examination are commonly used diagnostic tools for achalasia [10].

References:

[1] July 31, 2023 - Achalasia is not a common disorder in medicine. Most clinicians will not encounter a patient with this esophageal smooth muscle motility disorder...

[2] July 31, 2023 - The esophagus also has a marked absence of peristalsis...

[10] by MY Li · 2023 · Cited by 13 — DIAGNOSIS OF ACHALASIA. Currently, achalasia cardia is mainly diagnosed using high-resolution manometry (HRM), endoscopy, and barium meal examination...