Idiopathic achalasia . Idiopathic achalasia (AI) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES) in response to swallowing.
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- 1 Epidemiology
- 2 Clinical description
- 3 Etiology
- 4 Diagnostic methods
- 1 Differential diagnosis
- 5 Management and treatment
- 6 Forecast
- 7 Sources
AI is a rare disease with an annual incidence of about 1 / 200,000 to 1 / 59,000 and a recently estimated prevalence rate of 1 / 10,000. There is no gender predominance and the maximum incidence occurs between 30 and 60 years of age. It is suspected that there could be differences between different ethnic groups.
AI is predominantly characterized by fluid and solid dysphagia, insipid regurgitation that often does not respond adequately to a proton pump inhibition (PPI) test, and chest pain. Weight loss (generally between 5 and 10 kg) is present in most, but not all, of those affected. Heartburn occurs in 27% -42% of cases. Those affected by the disease are more prone to autoimmune disorders ( diabetes mellitus , hypothyroidism , Sjögren’s syndrome , lupus erythematosus).
Although the exact etiology is unknown, it is often considered to be autoimmune, viral, or neurodegenerative. Some family cases have been described, but the rarity of family incidence does not support the hypothesis that genetic inheritance is a significant etiological factor. AI has been associated with viral infections and autoantibodies to the myenteric plexus have been found, but the causal relationship remains unclear.
Failure to respond to proton pump inhibitor therapy in an individual initially diagnosed with gastroesophageal reflux disease (GERD) should lead to suspicion of motility disorders such as AI, especially if dysphagia is a reason for additional complaint. The diagnosis is based on the history of the disease, radiography ( barium esophagogram) and esophageal motility tests (esophageal manometry). Endoscopic evaluation of the gastroesophageal junction and the gastric heart is necessary to rule out malignancy. New diagnostic modalities, such as high-resolution manometry, help predict the response to achalasia treatment based on topographic patterns of esophageal pressure, identifying three achalasia phenotypes (I-III). The results suggest a better response to treatment in types I and II compared to type III.
Most of those affected are misdiagnosed with a reflux disease with regurgitation . The differential diagnosis of an individual with dysphagia and regurgitation includes GERD, esophageal spasm, pseudoachalasia (associated neoplasias malignant) and possibly eosinophilic esophagitis .
Management and treatment
Although AI cannot be completely cured, excellent results are achieved in more than 90% of those affected. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aim to reduce LES pressure and facilitate hydrostatic pressure and gravity esophageal emptying of retained food and fluids. Gradual pneumatic dilation (DN) or laparoscopic surgical myotomy with partial fundoplication are recommended as initial therapy based on the individual’s age, sex, and preferences, as well as local institutional experience. Toxin therapy Botulinum is less effective than DN or surgical myotomy, and is generally reserved for individuals who are not candidates for definitive therapy.
The prognosis of individuals affected by AI is excellent. Most patients with AI who are treated appropriately have a normal life expectancy , although the disease recurs and the affected person may need intermittent treatment.