Idiopathic (primary) achalasia

Abstract

Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease with an annual incidence of approximately 1/100,000 and a prevalence rate of 1/10,000. The disease can occur at any age, with a similar rate in men and women, but is usually diagnosed between 25 and 60 years. It is characterized predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. Weight loss (usually between 5 to 10 kg) is present in most but not in all patients. Heartburn occurs in 27%-42% of achalasia patients. Etiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant etiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. The diagnosis is based on history of the disease, radiography (barium esophagogram), and esophageal motility testing (esophageal manometry). Endoscopic examination is important to rule out malignancy as the cause of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aimed at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Although it cannot be permanently cured, excellent palliation is available in over 90% of patients.

Achalasia: will genetic studies provide insights?

“…It is characterized by aperistalsis and a failure of the lower esophageal sphincter (LES) to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (Farrokhi and Vaezi 2007).…”

“…The disease has an equal sex incidence and may emerge at any age although differences in age at diagnosis are observed between isolated achalasia (age at diagnosis typically between 25 and 60 years) (Farrokhi and Vaezi 2007) and some forms of familial or syndromic achalasia with an onset in childhood (see below).…”

Endoscopy in the Diagnosis and Management of Motility Disorders

“…Although barium swallow study has a high diagnostic yield, manometry is required to confirm the diagnosis. Endoscopy is strongly recommended since pseudo-achalasia due to a tumor at the gastro-esophageal junction may mimic primary (idiopathic) achalasia [13,14]. Endoscopy may be normal in early achalasia but, as the disease progresses, it may show dilated and atonic esophagus, filled with secretions and food particles (Fig.…”

Very rare coexistence of hypertrophic cardiomyopathy and achalasia

“…To the Editor, Human chromogranin A (CgA) is a secretory protein that is used as a tissue marker for neuroendocrine tumors (NETs) (1,2). In patients with carcinoids and pheochromocytomas, CgA is a more stable marker than plasma levels of serotonin, catecholamines and their urinary metabolites (3).…”