Idiopathic achalasia

The lower esophageal sphincter, the ring-shaped muscle at the bottom of the esophagus, normally relaxes during swallowing. In people with achalasia, this muscle ring does not relax as well. The reason for this problem is damage to the nerves of the esophagus. In some people, this problem appears to be inherited. There is additionally a suspected autoimmune component involved in the development of achalasia as individuals with achalasia are more likely to have a concomitant autoimmune disease than the general population.

Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication.

The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful.

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.

Given your husband's family history, it might be helpful for your daughter to have a consultation with a gastroenterologist. The Gastroparesis and Dysmotilities Association, a non-profit organization that supports achalasia, provides information on how to find a doctor. This information can be accessed using the following link.
http://www.digestivedistress.com/find-a-doctor

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.

ClinicalTrials.gov lists trials that are studying or have studied achalasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 1-800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site:http://clinicalcenter.nih.gov/

Although there is no cure for achalasia, treatment options are estimated to be effective in 90% of cases. Without treatment, individuals with achalasia develop progressive dilation of the esophagus. This then leads to late or end- stage achalasia, characterized by esophageal tortuosity (twisting and turning), angulation, and severe dilation.

Approximately 10-15% of individuals who have undergone treatment will progress to late or end-stage achalasia. Treatment for late or end-stage achalasia is typically esophagectomy (surgery to remove all or part of the esophagus).

The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve:

• Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix)
• Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter
• Surgery (Heller myotomy) to decrease the pressure in the lower sphincter
• Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy)

You can learn more about these treatment options by clicking on the following links:
eMedicine Esophageal Motility Disorders
Merck Manuals Motility Disorders

A doctor should help to determine the best treatment for each individual situation.

UpToDate has an article on Idiopathic achalasia. Click on UpToDate to view the page.