What Is Idiopathic Achalasia?
Source: Genetic and Rare Diseases (GARD) Information Center
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Achalasia
Achalasia Cardia; Cardiospasm; Esophageal Achalasia; Idiopathic Achalasia of Esophagus; Primary Achalasia
Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax.
An axial CT image showing marked dilatation of the esophagus in a person with achalasia.
Image by James Heilman, MD
Achalasia, What Is Achalasia, Achalasia Causes
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Source: Genetic and Rare Diseases (GARD) Information Center
Drawing of the esophagus showing achalasia with the esophagus, diaphragm, contracted muscle, and trapped food labeled
Image by NIDDK Image Library
Source: Genetic and Rare Diseases (GARD) Information Center
Inheritance and Family Medical History
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The majority of cases of achalasia are sporadic, meaning an isolated case within a family. However there are reports of familial achalasia in which several members of the same family are affected. Familial achalasia is thought to represent less that 1% of individuals with achalasia. Although causative genes have not yet been identified, family studies have lead researchers to suspect that familial achalasia is inherited in an autosomal recessive fashion. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected.
Achalasia is additionally associated with several genetic disorders including triple A syndrome, familial dysautonomia, familial glucocorticoid insufficiency, and Pierre-Robin sequence.
Source: Genetic and Rare Diseases Information Center (GARD)
Achalasia
Image by naturalherbsclinic/Pixabay
Source: Genetic and Rare Diseases (GARD) Information Center
Achalasia
Image by James Heilman, MD
Source: Genetic and Rare Diseases (GARD) Information Center
Botox Vials
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The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve:
Source: Genetic and Rare Diseases (GARD) Information Center
Esophageal stent for esophageal cancer
Image by James Heilman, MD
Individuals with achalasia are at an increased risk to develop cancer of the esophagus. Typically, the cancer is squamous cell type; however, an increased risk for adenocarcinoma has additionally been found. Endoscopic surveillance to screen for esophageal cancer in individuals with achalasia is controversial and often not recommended. There is limited long-term data on the incidence of esophageal cancer after surgical treatment; however, studies suggest that there might still be an increased risk.
Esophageal cancer can additionally be a cause of secondary achalasia in which individuals have symptoms of achalasia due to a primary underlying disorder.
Source: Genetic and Rare Diseases Information Center (GARD)
Prognosis Icon
Image by mcmurryjulie/Pixabay
Source: Genetic and Rare Diseases (GARD) Information Center
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