• Resumen
  • Sinónimos
  • Signos y Síntomas
  • Causas y Herencia
  • Frecuencia
  • Enfermedades con síntomas similares
  • Diagnóstico
  • Tratamiento
  • Investigaciones
  • Referencias
  • Programas & Recursos
  • Informe completo

Achalasia

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Última actualización: February 07, 2017
Años publicados: 1986, 1993, 1995, 1999, 2006, 2007, 2017


Reconocimiento

NORD gratefully acknowledges the Martin Mueller IV Achalasia Awareness Foundation and Eric S. Hungness, MD, Associate Professor of Surgery, S.David Stulberg Research Professor, Northwestern Medicine and Feinberg School of Medicine, for assistance in the preparation of this report.


Resumen

Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is the contraction and relaxation of the sphincter that moves food through the tube.

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Sinónimos

  • cardiospasm
  • dyssynergia esophagus
  • esophageal aperistalsis
  • megaesophagus
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Signos y Síntomas

The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.

Retention of saliva and ingested food in the esophagus may often cause regurgitation of these contents; in addition, such contents may also be propelled into the lungs during breathing (tracheobronchial aspiration). Other symptoms of this disorder may include a cough during the night and significant weight loss, because of difficulty in swallowing, in cases that remain untreated. Dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) are not unusual in patients with achalasia.

The aspiration of saliva and food contents by people with achalasia may cause pneumonia, other pulmonary infections, or even death. The incidence of esophageal cancer is significantly increased in patients with achalasia.

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Causas y Herencia

The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood at this time.

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Frecuencia

Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it appears that males are twice as likely as females to be diagnosed with this disorder.

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Diagnóstico

X-ray examination (radiology) is frequently useful in the diagnosis of achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (manometers) within the esophagus are used to confirm the diagnosis of achalasia.

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Tratamiento

Treatment

The treatment of achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, expanding the cross-section (manual dilation) of the sphincter muscle, or through surgery.

The drug isosorbide, (a long-acting nitrate) or nifedipine (a calcium channel blocker) may provide some relief for people with achalasia.

Approximately 70 percent of cases of achalasia may be treated effectively by the enlargement of the lower esophageal sphincter muscle through a procedure known as pneumatic balloon dilation. In many people, repeated dilations may be necessary to obtain improvement of symptoms.

Surgical treatments of achalasia may be effective in approximately 85-90 percent of cases. During these procedures, the muscle fibers in the lower esophageal sphincter are cut (laparoscopic Heller myotomy or peroral endoscopic myotomy). About 15 percent of people with achalasia experience the symptoms of gastroesophageal reflux after this surgical procedure.

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Investigaciones

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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Referencias

TEXTBOOKS
Kasper, DL, Fauci AS, Longo DL, et al., eds. Harrison’s Principles of Internal Medicine. 16th ed. McGraw-Hill Companies. New York, NY; 2005:217-18.

Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:709.

Yamada T, Alpers DH, Kaplowitz N, Laine L, et al., eds. Textbook for Gastroenterology. 4th ed. Lippincott Williams & Wilkins. Philadelphia, PA; 2003:1178-84.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories;1999:230-31.

REVIEW ARTICLES
Luckey AE 3rd, DeMeester SR. Complications of achalasia surgery. Thorac Surg Clin. 2006;16:95-98.

Beckingham U. Achalasia of the cardia: dilatation or division? Is pneumatic balloon dilatation justifiable anymore? Ann R Coll Surg Engl. 2006;88:11-12.

Lamb PJ, Griffin SM. Achalasia of the cardia: dilatation or division? The case for balloon dilatation. Ann R Coll Surg Engl. 2006;88:9-11.

Richards WO, Torquati A, Lutfi R. The current treatment of achalasia. Adv Surg. 2005;39:285-314.

Levine MS, Rubesin SE. Diseases of the esophagus: diagnosis with esophagraphy. Radiology. 2005;237:414-27.

Woltman TA, Pellegrini CA, Oelschlager BK. Achalasia. Surg Clin North Am. 2005;85:483-93.

Boeckxstaens GE. The lower oesophageal sphincter. Neurogastroenterol Motil. 2005;17 Suppl 1:13-21.

INTERNET
Lal SK. Achalasia. MedlinePlus. Review Date 10/27/2015. www.nlm.nih.gov/medlineplus/ency/article/000267.htm Accessed February 6, 2017.

Achalasia and Esophageal Motility Disorders. STS Patient Information. Society of Thoracic Surgeons. August 2016. www.sts.org/doc/4120 Accessed February 6, 2017.

Allaix ME. Achalasia. Medscape. Updated: Aug 24, 2016. www.emedicine.com/med/topic16.htm Accessed February 6, 2017.

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Programas & Recursos

Programas de asistencia RareCare®

Programas de Asistencia Adicional

Programa de Asistencia MedicAlert

NORD y la Fundación MedicAlert se han asociado en un nuevo programa para brindar protección a pacientes con enfermedades raras en situaciones de emergencia.

Aprende más https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Programa de Apoyo Educativo de Enfermedades Raras

Asegurarse de que los pacientes y los cuidadores estén equipados con las herramientas que necesitan para vivir su mejor vida mientras manejan su condición rara es una parte vital de la misión de NORD.

Aprende más https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Programa de descanso para cuidadores raros

Este programa de asistencia, primero en su tipo, está diseñado para los cuidadores de un niño o adulto diagnosticado con un trastorno raro.

Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Organizaciones de pacientes


National Organization for Rare Disorders