Esophageal achalasia is a rare disorder of the esophagus characterized by an inability of the lower esophageal sphincter to relax, resulting in a loss of the normal peristaltic motion. This effect is almost always due to loss of nervous stimulation to the lower esophageal tube. Typical symptoms of the condition include dilated esophagus, difficulty in swallowing, dysphagia, regurgitating food, night-time coughs, and non cardiac chest pains. Affected patients may also show weight loss, heartburn, and frequent hiccups. Complications of the condition include tearing of the esophagus and aspiration of food contents into the lungs causing pneumonia.
Diagnosis of the condition usually involves performing a barium swallow or an endoscopy. The endoscopy is especially important, since it can rule out the presence of other conditions like a peptic stricturte, or cancer. The key diagnostic test, however, is an esophageal manometry, in which a tube, inserted through the nose, measures the pressure in different parts of the esophagus and stomach.
Treatment aims at reducing the pressure at the esophageal sphincter. The most common procedure for achieving this is through a pneumatic or balloon dilatation, in which a balloon placed inside the sphincter is forcefully inflated to stretch the muscles. Other treatment strategies include intrasphincteric injection of botulinum toxin, laproscopic Heller myotomy, and esophagectomy. In all cases, all patients need to be followed up by endoscopy, since there is an increased risk for developing squamous cell and/or adeno carcinoma. Patients are advised to eat slowly with a lot of chewing and drink plenty of water with meals. It is also advisable to avoid food containing tomatoes, citrus fruits, chocolate, mint, alcohol, and caffeine.
Familial cases of esophageal achalasia are very rare. Some of these cases have been found to exist in association with other neuromuscular disorders, like familial dysautonomia or glucocorticoid deficiency. The familial form of the disease has been shown to follow an autosomal recessive pattern of inheritance. However, to date, no specific gene or genetic locus has been identified to be responsible for the condition. In addition, the rarity of familial occurrence seems to support the notion that genetic predisposition in affected individuals probably increases their susceptibility to acquiring achalasia after exposure to common environmental factors that may play a role in the pathogenesis.
Upadhyaya et al. (2002) conducted a retrospective study to prove the positive aspects of balloon dilatation as the primary modality of treatment and to demonstrate the high incidence of non-syndromic familial cases. The study was done on 12 children (eight boys and four girls) who were diagnosed with achalasia by barium swallow and were treated with hydrostatic balloon dilatation between the period of 1991 and 1999. Three patients had positive family history of the condition, with the oldest sibling of one patient having been operated upon. In these families, all the siblings presented with achalasia at an earlier age of two months to three years (before becoming severely malnourished) and no associated genetic disorders were noted in any of the families. Patients presented at ages ranging from two months to 14 years (mean of five years), mainly with dysphagia, vomiting, respiratory tract infection, and failure to thrive. These symptoms started in three patients soon after birth, while the eldest patient had been symptomatic since the age of five years. Balloon dilatation was done under general anesthesia and under fluoroscopic guidance with pressures ranging from 1.2 to 3 bars as soon as these children were fit. The size of the balloon depended on the diameter of the dilated segment of the esophagus above the narrowing, and not the age of the patient. Barium swallow was repeated a day after the procedure, and if it was normal, the patient was restarted on feeds and discharged with follow up in the outpatient clinic after three months when symptoms of recurrence and gastro-esophageal reflux were assessed. All patients were advised to return if they were symptomatic and the follow up period ranged from three months to eight years. Two patients developed recurrence which was confirmed by repeat barium swallow and they were successfully managed by repeat balloon dilatation. No complications after the procedure were noted in any of the children. On long term follow-up, all patients were thriving and tolerating appropriate diet, and none developed gastro-esophageal reflux or dysphagia.
Mudawi and Fedail (2004) reported an 8-month old Sudanese male child with a history of recurrent vomiting since the age of 4 months who was referred for upper gastrointestinal edoscopy, which showed a dilated esophagus and a tight lower esophageal sphincter. The child was diagnosed as having achalasia, which was successfully treated with pneumatic dilatation under general anesthesia.
Torab et al. (2012) described a family, in which six out of nine siblings suffered from Achalasia. Four of these affected siblings were boys. In all, symptoms of vomiting undigested food started at around the age of 6-months. Achalasia was confirmed by barium swallow. Molecular tests were not revealing, as no mutations could be detected in the AAAS gene. The children were treated by balloon dilatations and/or Heller's Myotomy and were all doing well at the time of publication.