Primary Achalasia: Practice Implications Jean M. Swaney, MSN, ANP-C, Yvonne M. Smith, PhD, APRN-CNS, and Wanchana Sachai, MSN ABSTRACT Achalasia is a rare but debilitating condition that affects approximately 1 to 2 in 100,000 persons. Although exact causes are unknown, achalasia may have its inception in familial, infectious, or autoimmune pathology. Regardless of the cause, patients with achalasia experience dysphagia, esophageal aparistalsis, regurgitation of food and fluids, and a range of other symptoms that impact quality of life for these patients. In this article, the authors explain the etiology and symptomatology of achalasia and present diagnostic and treatment options for practitioner consideration. Keywords: achalasia, dysphagia, esophageal disease Ó 2016 Elsevier Inc. All rights reserved. M rs. M. is a 47-year-old white woman with a medical history of hypercholesteremia and hypertension. She has been seen by her primary care physician every 6 months. During 1 of her routine visits, she reported experiencing intermittent episodes of feelings of food seeming to get caught in her throat while eating. The symptoms were empirically diagnosed as gastroesophageal reflux disease (GERD). Symptoms did not improve despite proton pump inhibitor and Reglan therapy (Robins Pharmaceuticals ltd, Auckland, New Zealand). Two years later, during an elective surgery for benign fibroid tumors, she aspirated and coded. A gastrointestinal consult postoperatively wrote that she had “Reglan failure” with severe GERD. Nine months later, Mrs. M. began experiencing frequent, spontaneous, and nocturnal regurgitation of undi- gested food. She had a greater than 50-lb uninten- tional weight loss. A barium swallow revealed a severely dilated esophagus with a bird’s beak appear- ance to the lower esophageal sphincter (LES). Acha- lasia was confirmed by endoscopy later that month. Within days after the formal diagnosis was made, Mrs. M. was admitted to the hospital for severe substernal chest pain with radiation to the back, arms, and neck. The case study is typical of an achalasia pre- sentation. 1 Achalasia is an esophageal motor neurodegenerative disease that frequently mimics other conditions, particularly in its early stages. The term achalasia is derived from the Greek, meaning “does not relax.” 2 It is a rare and debilitating condition that affects approximately 1 to 2 in 100,000 persons. 3,4 Because of its potentially serious consequences, the nurse practitioner (NP) should consider it in the differential diagnosis of persons presenting with chest pain, dysphagia, or GERD unresponsive to treatment. 5 Prompt recognition of the problem will enable the NP to refer to the gastroenterologist in a more timely manner. This article examines the pathophysiology, etiology, symptomatology, differential diagnosis, and treatment of achalasia. PATHOPHYSIOLOGY Normal peristalsis results in the coordinated relaxa- tion and contraction of the esophagus. 6 The muscles of the esophagus are innervated by the somatic efferent fibers of the vagus nerve at the proximal aspect and the preganglionic vagal nerve fibers along the distal aspect. Neurotransmitters such as nitrous oxide and vasoactive intestinal peptide along these pathways cause contraction and relaxation of the esophagus and LES. Persons with achalasia are noted to have an aperistalsis, which manifests as esophageal contractions that are either high amplitude and The activity is approved for 0.7 contact hour(s) of continuing education by the American Association of Nurse Practitioners (AANP). This activity was planned in accordance with AANP CE Standards and Policies. AANP members may receive credit by completing the online posttest and eval- uation at cecenter.aanp.org/program?area=JNP. www.npjournal.org The Journal for Nurse Practitioners - JNP 473
Primary Achalasia: Practice Implications
Dec 14, 2022
Achalasia is a rare but debilitating condition that affects approximately 1 to 2 in
100,000 persons. Although exact causes are unknown, achalasia may have its inception
in familial, infectious, or autoimmune pathology. Regardless of the cause, patients
with achalasia experience dysphagia, esophageal aparistalsis, regurgitation of food and
fluids, and a range of other symptoms that impact quality of life for these patients. In
this article, the authors explain the etiology and symptomatology of achalasia and
present diagnostic and treatment options for practitioner consideration
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Primary Achalasia: Practice ImplicationsPrimary Achalasia: Practice Implications Jean M. Swaney, MSN, ANP-C, Yvonne M. Smith, PhD, APRN-CNS, and Wanchana Sachai, MSN
The activity is a by the American was planned in a members may re uation at cecent
www.npjourn
ABSTRACT Achalasia is a rare but debilitating condition that affects approximately 1 to 2 in 100,000 persons. Although exact causes are unknown, achalasia may have its inception in familial, infectious, or autoimmune pathology. Regardless of the cause, patients with achalasia experience dysphagia, esophageal aparistalsis, regurgitation of food and fluids, and a range of other symptoms that impact quality of life for these patients. In this article, the authors explain the etiology and symptomatology of achalasia and present diagnostic and treatment options for practitioner consideration.
Keywords: achalasia, dysphagia, esophageal disease 2016 Elsevier Inc. All rights reserved.
rs. M. is a 47-year-old white woman with a medical history of hypercholesteremia
Mand hypertension. She has been seen by
her primary care physician every 6 months. During 1 of her routine visits, she reported experiencing intermittent episodes of feelings of food seeming to get caught in her throat while eating. The symptoms were empirically diagnosed as gastroesophageal reflux disease (GERD). Symptoms did not improve despite proton pump inhibitor and Reglan therapy (Robins Pharmaceuticals ltd, Auckland, New Zealand). Two years later, during an elective surgery for benign fibroid tumors, she aspirated and coded. A gastrointestinal consult postoperatively wrote that she had “Reglan failure” with severe GERD. Nine months later, Mrs. M. began experiencing frequent, spontaneous, and nocturnal regurgitation of undi- gested food. She had a greater than 50-lb uninten- tional weight loss. A barium swallow revealed a severely dilated esophagus with a bird’s beak appear- ance to the lower esophageal sphincter (LES). Acha- lasia was confirmed by endoscopy later that month. Within days after the formal diagnosis was made, Mrs. M. was admitted to the hospital for severe substernal chest pain with radiation to the back, arms, and neck.
pproved for 0.7 contact hour(s) of continuing education Association of Nurse Practitioners (AANP). This activity ccordance with AANP CE Standards and Policies. AANP ceive credit by completing the online posttest and eval- er.aanp.org/program?area=JNP.
al.org
The case study is typical of an achalasia pre- sentation.1 Achalasia is an esophageal motor neurodegenerative disease that frequently mimics other conditions, particularly in its early stages. The term achalasia is derived from the Greek, meaning “does not relax.”2 It is a rare and debilitating condition that affects approximately 1 to 2 in 100,000 persons.3,4 Because of its potentially serious consequences, the nurse practitioner (NP) should consider it in the differential diagnosis of persons presenting with chest pain, dysphagia, or GERD unresponsive to treatment.5 Prompt recognition of the problem will enable the NP to refer to the gastroenterologist in a more timely manner. This article examines the pathophysiology, etiology, symptomatology, differential diagnosis, and treatment of achalasia.
PATHOPHYSIOLOGY Normal peristalsis results in the coordinated relaxa- tion and contraction of the esophagus.6 The muscles of the esophagus are innervated by the somatic efferent fibers of the vagus nerve at the proximal aspect and the preganglionic vagal nerve fibers along the distal aspect. Neurotransmitters such as nitrous oxide and vasoactive intestinal peptide along these pathways cause contraction and relaxation of the esophagus and LES. Persons with achalasia are noted to have an aperistalsis, which manifests as esophageal contractions that are either high amplitude and
The Journal for Nurse Practitioners - JNP 473
simultaneous or low amplitude and nonprogressive.7
This aperistalsis is caused by degenerative changes in the neurons along the esophageal wall.6 The net result is an enlarged and often widely dilated esophagus with a narrowed LES.
ETIOLOGY OF ACHALASIA Although exact causes are unknown, Park and Vaezi6
postulated that achalasia may have its inception in familial, infectious, or autoimmune pathology. They noted that familial cases are extremely rare and are probably an autosomal recessive inheritance when they do occur. Infectious etiologies are more common. Chagas disease, caused by the protozoan parasite Trypanosoma cruzi, can cause incomplete LES relaxation and aperistalsis. There have also been case reports of achalasia-type symptoms associated with polio, Guillian-Barré, varicella, and viral esophageal infections. A large number of patients have an elevated antibody titer to varicella zoster and measles although this elevation is not present in all cases of achalasia.8 Some autoimmune conditions such as systemic lupus, Sjogren syndrome, eosinophilic esophagitis, and scleroderma can develop HLA class II antigens that are often present in idiopathic achalasia. However, not all patients with achalasia have these HLA antigens, so causality cannot be established.6 Boeckxstaens9 proposed that antecedent trauma such as a motor vehicle accident or coronary artery bypass grafting may damage the vagal nerve, causing neuropathic dysfunction and leading to achalasia. Secondary achalasia can also be caused by diabetes mellitus or malignancy.1,9
Eosinophilic esophagitis may be a risk factor. It has been recently identified in approximately 1% of persons undergoing esophageal procedures verifying achalasia.10 Eosinophilic esophagitis is an allergic reaction, resulting in eosinophils building up on the esophageal lining, causing inflammation and subsequent scarring, narrowing, and formation of excess fibrous tissue within the esophagus.11
Mandaliya et al10 studied the association of the 2 conditions, noting that when found together, poorer long-term outcomes were likely.
Allgrove (Triple A) syndrome is an extremely rare autosomal recessive disorder characterized by alac- rima, achalasia, and adrenal insufficiency.12 First
The Journal for Nurse Practitioners - JNP474
described in the literature in 1978, onset varies between infancy and adulthood; the latter’s symptoms generally manifest as progressive dysautonomia. Diagnosis of Allgrove syndrome is based on clinical examination and adrenal function testing. Further genetic testing confirms the diagnosis.13 Because of its severe prognosis and high morbidity if left untreated, Allgrove syndrome should be considered in the differential for achalasia.
SYMPTOMATOLOGY OF ACHALASIA Boeckxstaens9 noted diagnostic delays, on average, of 5 years when establishing a diagnosis of achalasia. Most of the time, symptom presentation is typical but misinterpreted. The delay in diagnosis can also be related to early stages of the disease. Symptoms are frequently mild and/or can occur inconsistently. The most common symptoms are chest pain, GERD-like symptoms, and dysphagia. Chest pain generally oc- curs most frequently in younger patients and may present as substernal tightness or pressure with or without radiation to the arm or back. The chest pain frequently responds to sublingual nitroglycerin.14
Dysphagia is a hallmark of many esophageal conditions. There is a sensation of food or medica- tions “sticking” in the throat or esophagus. A major symptom of achalasia will be a progressive dysphagia to both solids and liquids, with dysphagia to liquids being a key diagnostic finding. If dysphagia is the presenting symptom, it is wise to determine if the problem occurs during the actual act of swallowing or during the esophageal phase. The latter is more likely to be a clue to achalasia. Other symptoms may include regurgitation of food and fluids, nocturnal cough, reactive airway symptoms and choking while recumbent, heartburn, halitosis, frequent hiccups, and difficulty belching.15,16 Some patients may be able to develop compensatory behaviors to aid in swallowing, such as throwing back the shoulders while eating to facilitate esophageal emptying.14
Weight loss is generally mild, unless the disease is in its later stages. Screening for achalasia should occur for someone with recurrent episodes of aspiration pneumonia, bronchiectasis, or a finding of a lung abscess because of aspiration. Screening should also be undertaken for any immunocompetent individual presenting with oral candidiasis, which can occur
Volume 12, Issue 7, July/August 2016
Table 2. Diagnostics
with esophageal dysmotility.17 Be aware of the patient presenting with significant weight loss and rapidly progressive dysphagia. This patient, particularly if elderly, may more likely have some type of infiltrating malignancy.9 A list of commonly occurring symptoms is included in Table 1.
DIAGNOSING THE PROBLEM The physical examination is the initial step and should include a comprehensive history. The usual questions should be asked about symptom timing, presentation, severity, aggravating or ameliorating factors, location, and setting. In addition, questions about any family history or compensatory behaviors should be asked. The examination should include a skin assessment to determine whether there are any changes consistent with an autoimmune disorder such as lupus or scleroderma. An examination of the mouth should assess for the presence of masses or lesions as well as hydration status. A complete cardiopulmonary ex- amination should be performed, particularly in the setting of chest pain. It is also necessary to palpate the chest wall and ribs to rule out a musculoskeletal component to the pain. A thorough neurologic ex- amination, especially focused on motor function, should be performed for any complaint of dysphagia. The gastrointestinal examination should include an assessment of stool for occult blood.14
Laboratory and radiology studies should be or- dered based on the history and physical. If the
Table 1. Symptoms of Achalasia
System Symptom
pneumonia
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presenting symptom is chest pain, an electrocardio- gram, echocardiogram, and possible stress test, if indicated, should be performed to rule out cardiac etiology. If a chest x-ray is performed, a widened mediastinum with absence of a gastric air bubble may suggest a diagnosis of achalasia.15 When the presenting symptom is dysphagia, the most sensitive test is a barium swallow. However, the specificity of the barium swallow is poor in early stages of the disease process.14 A finding of a dilated esophagus with a narrowed and beak-shaped LES is indicative of achalasia and warrants a prompt referral to a gastro- enterologist. Radiology is diagnostic in approxi- mately two thirds of the cases, and endoscopy is diagnostic in the remaining third.9 In achalasia, endoscopic findings can appear normal or may show a puckered LES unresponsive to air insufflation but that permits passage of the scope with minimal pressure.18 If esophageal manometry is performed during endoscopy, sensitivity approaches 90%.9
Manometry findings indicative of achalasia are aperistalsis, increased LES pressure, and incomplete sphincter relaxation with swallow.14 Diagnostic procedures are listed in Table 2.
Stress test
Dilated esophagus
future therapy)
TREATMENT OF ACHALASIA Treatment of achalasia may include medications, botulinum toxin (Botox, Teva Pharmaceuticals, Westport, Ireland), pneumatic dilatation, or surgery. None are curative, and all have varying degrees of efficacy. Medications are frequently used as a bridge to more definitive treatments. For example, nitrates and calcium channel blockers, when taken 1/2 to 1 hour before a meal, can enhance smooth muscle relaxation and decrease lower LES pressures in the esophagus. Medication effects are often transient because of tolerance and side effects, which include hypotension, rapid tolerance to effects, headache, constipation, and peripheral edema.19 Research is being conducted to determine if an infusion of sildenafil (Viagra, Pfizer Pharmaceuticals, Cork, Ireland) would be effective because both achalasia and impotence develop because of impaired nitric oxide production.14 Results of a small, randomized controlled trial were promising; however, side effects are decidedly a limiting factor in using this treatment. A subsequent study by Eherer et al20
found that sildenafil lowers LES pressures as well as increases bolus propulsion in the esophagus. Other research is focusing on neural stem cell injection into the esophagus and gene therapy to restore nitric oxideereleasing neurons.14
Botulinum toxin (Botox) can be injected directly into the LES to produce a reduction in LES pressure. This works by inhibiting acetylcholine release at the neuromuscular junction, resulting in improved esophageal emptying and symptom improvement. However, the effects wear off after 1 to 3 months, and injections can only be given every 6 to 12 months.19 Boeckxstaens9 reported fewer relapses when the initial Botox injection is followed by a second injection 1 month later. Reynoso et al21
reported Botox therapy to be associated with very high symptomatic relapse after 2 years. Botox can interfere with subsequent surgery, causing increased risk for mucosal lacerations and decreased long-term favorable outcomes.9 This modality might have more favorable outcomes for those who are unable to tolerate more aggressive treatment. Advantages of Botox include technical ease of use, simplicity, relatively lower cost, and relative safety. Besides possible interference with subsequent procedures,
The Journal for Nurse Practitioners - JNP476
complications can include a poor response secondary to antibody production associated from the introduction of a foreign protein and perforation or bleeding. Botox is administered under conscious sedation as an outpatient procedure.19 Treatment options are summarized in Table 3.
Pneumatic dilatation (PD) of the LES performed during a fluroscopically guided endoscopic procedure under conscious sedation is not a cure but is recog- nized as a safe and effective treatment method. Long- term follow-up shows 32% of PD patients require some additional treatment.1 PD is 70% to 90% effective over the first 5 years.9 During the procedure, muscle fibers are torn, weakening the LES. No consensus exists regarding optimal inflation pressure or duration of inflation, although in a meta- analysis most initial procedures used a 30-mm dilator with subsequent procedures using 35-mm dilation.20
Predictors of therapeutic failure include male sex, age less than 40 years, a wide esophagus, small balloon size, single dilatation, LES pressure > 10 mm Hg after the procedure, and poor esophageal emptying after the procedure.9 A serious side effect from PD is esophageal perforation, which can be visualized by a postprocedure esophagram.22 Interval follow-up is necessary. Repeat procedures can be performed in the event of failure.
Surgical myotomy is frequently used for failed PD but may also be used as an initial procedure for younger patients. Lower esophageal muscles fibers are cut during this procedure. It can be per- formed by thoracoscopy, laparoscopy, or via a conventional thoracic or abdominal incision. Most initial procedures are performed via laparoscopy.23
Fundoplication can be performed during the
Volume 12, Issue 7, July/August 2016
procedure to decrease reflux symptoms after surgery. Mortality rates of approximately 0.3% are comparable with that of PD. In addition, laparoscopic myotomy has better outcomes and lower hospital days compared with conventional surgical procedures.21
Complications can include reflux, esophageal ulceration, stricture, and Barrett esophagus.
Peroral endoscopic myotomy, a laparoscopic procedure, adds a submucosal tunnel to access and dissect the muscular circular layer of the esophagus.23
This procedure reduces postmyotomy reflux without an additional fundoplication and may potentially reduce the incidence of carcinoma. Peroral endoscopic myotomy is a less invasive procedure with minimal complications.24 Patients are generally discharged to home the day after the procedure on a liquid diet, and few subsequently complain of reflux symptoms.25 Success rates have reportedly been 89% to 100% over a 6-month period. Studies with longer- term follow-up show decreasing efficacy, with rates from 82% at 1 year to 80% after 2 years. Serious complications were reported to be low. Reflux esophagitis occurs approximately 18% of the time and requires treatment with long-term proton pump inhibitors.26
DISCUSSION The American Society for Gastrointestinal Endos- copy guidelines note a high prevalence of esophageal squamous cell carcinoma in the achalasia patient population, ranging from 0.4% to 9.2%.27 According to most studies cited by the group, risk ranges from 7- to 33-fold. There is no indication if any of the aforementioned treatments affect cancer risk. Adenocarcinoma has also been noted after myotomy, particularly in patients with resultant Barrett esophagus. The mean age at diagnosis ranges from 48 to 71 years. Most patients have achalasia for at least 15 years before the diagnosis of esophageal cancer is made. Prognosis for these patients is poor.27
Lifestyle and behavior modifications are an important part of the achalasia patient’s treatment. This should include tobacco and alcohol cessation. Learning how to decrease stress is another strategy that should be encouraged, using counseling if necessary. Regular rest, exercise, and a healthy diet are also very important. Cooked foods and nutritious
www.npjournal.org
fluids should be recommended because they are easily swallowed and pass through the LES with relative ease. Small, frequent meals are more appropriate, especially for those awaiting procedures. Meals should be eaten slowly and deliberately, avoiding tension, anxiety, and multitasking. Sitting or standing with erect posture during mealtime facilitates the passage of food.14 Medications can be ordered in liquid, rapid dissolving, or rectal forms for those unable to swallow noncrushable pills.
Postprocedure quality of life (QOL) has been addressed in a few studies. Garrigues et al28 reported a disease-specific, health-related QOL was significantly improved from preprocedure to post-PD or Hellar myotomy with posterior partial fundoplication. Their survey instrument revealed the magnitude of prob- lems affecting a patient such as fatigue, frustration, decreased physical strength, sleep issues, and impaired physical relationships. Postprocedure surveys showed improvement in all areas. An interesting finding was that residual mild symptoms after therapy did not impact the QOL scores.28 Patient anecdotal postings on various Internet Web pages also speak to the emotional and functional problems associated with the disease and treatments.
FOLLOW-UP OF CASE STUDY Mrs. M. was referred to a cardiothoracic surgeon who subsequently performed a Heller myotomy with fundoplication. Currently, Mrs. M.’s symptoms are manageable, although not resolved. Her weight has returned to normal and stabilized. There has been no further regurgitation. Symptoms have been managed by limiting irritants such as caffeine, alcohol, and spicy foods; eating small, frequent meals; and sleeping elevated on a wedge pillow. Mrs. M. follows up with a gastroenterologist annually with endoscopy as rec- ommended. Although American College of Gastro- enterology guidelines do not recommend annual surveillance endoscopy, individual specialists often advocate this practice based on patient-specific indications.
CONCLUSION Although rare, because of the poor outcomes and quality of life, achalasia should be included in the differential diagnosis for patients presenting with
The Journal for Nurse Practitioners - JNP 477
References
1. Spiliopoulos S, Sabharwal T, Inchingolo R, et al. Fluoroscopically guided
balloon dilatation for the treatment of achalasia: long-term outcomes. Dis
Esophagus. 2013;26(3):213-218.
1444?redirectedFrom¼achalasia#eid. Accessed January 26, 2015.
3. Vaezi MF, Pandolfino JE, Vela MF, et al. ACG clinical guideline: diagnosis
and management of achalasia. Am J Gastroenterol. 2013;108(8):
1238-1249.
4. Cheung W, Ho M, Chou A. Delayed discovery and diagnosis of achalasia
resulting in megaesophagus in an elderly nursing home resident. J Am
Geriatr Soc. 2015;63(1):201-203.
5. Kessing BF, Bredenoord AJ, Smout AJ. Erroneous diagnosis of
gastroesophageal reflux disease in achalasia. Clin Gastroenterol Hepatol.
2011;9:1020-1024.
6. Park W, Vaezi MF. Etiology and pathogenesis of achalasia: the current
understanding. Am J Gastroenterol. 2005;100:1404-1414.
7. Kraichel RE, Farrugia G. Achalasia: physiology and etiopathogenesis. Dis
Esophagus. 2006;19:213-223.
8. Paterson WG. Esophageal and lower esophageal sphincter response to
balloon distention in patients with achalasia. Dig Dis Sci.
1997;42(1):106-112.
2007;21:595-608.
10. Mandaliya R, DiMarino AJ, Cohen S. Association of achalasia and
eosinophilic esophagitis. Indian J Gastroenterol. 2013;32(1):54-57.
11. Mayo Clinic. Diseases and conditions. Eosinophilic esophagitis. http://www
.mayoclinic.org/diseases-conditions/eospiophilic esophagitis/basics/
definition/con-20035681. Accessed May 27, 2015.
12. NIH US National Library. Triple A Syndrome. Genetic home reference. https://
ghr.nlm.nih.gov/condition/triple-a-syndrome. Published May 10, 2016.
Accessed May 9, 2016.
.php?Expert¼869. Published April 2013. Accessed May 8, 2016.
14. Strader SL. Esophageal motor disorders: achalasia and esophageal spasm.
J Am Acad Nurse Pract. 2001;13(11):502-507.
15. Gupta PP, Yadav R, Agarwal D, et al. Mediastinal air-fluid level with substernal
pain: achalasia. N Z Med J. 2013;126(1374):88-91.
16. Singh S. Medical management of swallowing disorders. In: Mankekar G, ed.
Swallowing: Physiology, Disorders, Diagnosis and Therapy. New Delhi:
Springer; 2015:141-160.
17. Pandolfino JE, Gawron AJ. Achalasia: a systematic review. JAMA.
2015;313(18):1841-1852.
18. McCormick SE. Diagnosis and treatment of achalasia. Tech Gastrointest
Endosc. 2001;3(3):144-151.
19. Moonen AJ, Boeckxstaens GE. Management of achalasia. Gastroenterol Clin
North Am. 2013;42(1):45-55.
20. Eherer AJ, Schwetz I, Hammer HF, et al. Effect of sildenafil on oesophageal
motor function in healthy subjects and patients with oesophageal motor
disorders. Gut. 2002;50(6):758-764.
21. Reynoso JF, Tiwari MM, Tsang AW, et al. Does illness severity matter? A
comparison of laparoscopic esophagomyotomy with fundoplication and
esophageal dilation for achalasia. Surg Endosc. 2011;25:1466-1471.
22. Lynch KL, Pandolfino JE, Howden CW, et al. Major complications of
pneumatic dilation and heller myotomy for achalasia: single center
experience and systematic review of the literature. Am J Gastroenterol.…
The activity is a by the American was planned in a members may re uation at cecent
www.npjourn
ABSTRACT Achalasia is a rare but debilitating condition that affects approximately 1 to 2 in 100,000 persons. Although exact causes are unknown, achalasia may have its inception in familial, infectious, or autoimmune pathology. Regardless of the cause, patients with achalasia experience dysphagia, esophageal aparistalsis, regurgitation of food and fluids, and a range of other symptoms that impact quality of life for these patients. In this article, the authors explain the etiology and symptomatology of achalasia and present diagnostic and treatment options for practitioner consideration.
Keywords: achalasia, dysphagia, esophageal disease 2016 Elsevier Inc. All rights reserved.
rs. M. is a 47-year-old white woman with a medical history of hypercholesteremia
Mand hypertension. She has been seen by
her primary care physician every 6 months. During 1 of her routine visits, she reported experiencing intermittent episodes of feelings of food seeming to get caught in her throat while eating. The symptoms were empirically diagnosed as gastroesophageal reflux disease (GERD). Symptoms did not improve despite proton pump inhibitor and Reglan therapy (Robins Pharmaceuticals ltd, Auckland, New Zealand). Two years later, during an elective surgery for benign fibroid tumors, she aspirated and coded. A gastrointestinal consult postoperatively wrote that she had “Reglan failure” with severe GERD. Nine months later, Mrs. M. began experiencing frequent, spontaneous, and nocturnal regurgitation of undi- gested food. She had a greater than 50-lb uninten- tional weight loss. A barium swallow revealed a severely dilated esophagus with a bird’s beak appear- ance to the lower esophageal sphincter (LES). Acha- lasia was confirmed by endoscopy later that month. Within days after the formal diagnosis was made, Mrs. M. was admitted to the hospital for severe substernal chest pain with radiation to the back, arms, and neck.
pproved for 0.7 contact hour(s) of continuing education Association of Nurse Practitioners (AANP). This activity ccordance with AANP CE Standards and Policies. AANP ceive credit by completing the online posttest and eval- er.aanp.org/program?area=JNP.
al.org
The case study is typical of an achalasia pre- sentation.1 Achalasia is an esophageal motor neurodegenerative disease that frequently mimics other conditions, particularly in its early stages. The term achalasia is derived from the Greek, meaning “does not relax.”2 It is a rare and debilitating condition that affects approximately 1 to 2 in 100,000 persons.3,4 Because of its potentially serious consequences, the nurse practitioner (NP) should consider it in the differential diagnosis of persons presenting with chest pain, dysphagia, or GERD unresponsive to treatment.5 Prompt recognition of the problem will enable the NP to refer to the gastroenterologist in a more timely manner. This article examines the pathophysiology, etiology, symptomatology, differential diagnosis, and treatment of achalasia.
PATHOPHYSIOLOGY Normal peristalsis results in the coordinated relaxa- tion and contraction of the esophagus.6 The muscles of the esophagus are innervated by the somatic efferent fibers of the vagus nerve at the proximal aspect and the preganglionic vagal nerve fibers along the distal aspect. Neurotransmitters such as nitrous oxide and vasoactive intestinal peptide along these pathways cause contraction and relaxation of the esophagus and LES. Persons with achalasia are noted to have an aperistalsis, which manifests as esophageal contractions that are either high amplitude and
The Journal for Nurse Practitioners - JNP 473
simultaneous or low amplitude and nonprogressive.7
This aperistalsis is caused by degenerative changes in the neurons along the esophageal wall.6 The net result is an enlarged and often widely dilated esophagus with a narrowed LES.
ETIOLOGY OF ACHALASIA Although exact causes are unknown, Park and Vaezi6
postulated that achalasia may have its inception in familial, infectious, or autoimmune pathology. They noted that familial cases are extremely rare and are probably an autosomal recessive inheritance when they do occur. Infectious etiologies are more common. Chagas disease, caused by the protozoan parasite Trypanosoma cruzi, can cause incomplete LES relaxation and aperistalsis. There have also been case reports of achalasia-type symptoms associated with polio, Guillian-Barré, varicella, and viral esophageal infections. A large number of patients have an elevated antibody titer to varicella zoster and measles although this elevation is not present in all cases of achalasia.8 Some autoimmune conditions such as systemic lupus, Sjogren syndrome, eosinophilic esophagitis, and scleroderma can develop HLA class II antigens that are often present in idiopathic achalasia. However, not all patients with achalasia have these HLA antigens, so causality cannot be established.6 Boeckxstaens9 proposed that antecedent trauma such as a motor vehicle accident or coronary artery bypass grafting may damage the vagal nerve, causing neuropathic dysfunction and leading to achalasia. Secondary achalasia can also be caused by diabetes mellitus or malignancy.1,9
Eosinophilic esophagitis may be a risk factor. It has been recently identified in approximately 1% of persons undergoing esophageal procedures verifying achalasia.10 Eosinophilic esophagitis is an allergic reaction, resulting in eosinophils building up on the esophageal lining, causing inflammation and subsequent scarring, narrowing, and formation of excess fibrous tissue within the esophagus.11
Mandaliya et al10 studied the association of the 2 conditions, noting that when found together, poorer long-term outcomes were likely.
Allgrove (Triple A) syndrome is an extremely rare autosomal recessive disorder characterized by alac- rima, achalasia, and adrenal insufficiency.12 First
The Journal for Nurse Practitioners - JNP474
described in the literature in 1978, onset varies between infancy and adulthood; the latter’s symptoms generally manifest as progressive dysautonomia. Diagnosis of Allgrove syndrome is based on clinical examination and adrenal function testing. Further genetic testing confirms the diagnosis.13 Because of its severe prognosis and high morbidity if left untreated, Allgrove syndrome should be considered in the differential for achalasia.
SYMPTOMATOLOGY OF ACHALASIA Boeckxstaens9 noted diagnostic delays, on average, of 5 years when establishing a diagnosis of achalasia. Most of the time, symptom presentation is typical but misinterpreted. The delay in diagnosis can also be related to early stages of the disease. Symptoms are frequently mild and/or can occur inconsistently. The most common symptoms are chest pain, GERD-like symptoms, and dysphagia. Chest pain generally oc- curs most frequently in younger patients and may present as substernal tightness or pressure with or without radiation to the arm or back. The chest pain frequently responds to sublingual nitroglycerin.14
Dysphagia is a hallmark of many esophageal conditions. There is a sensation of food or medica- tions “sticking” in the throat or esophagus. A major symptom of achalasia will be a progressive dysphagia to both solids and liquids, with dysphagia to liquids being a key diagnostic finding. If dysphagia is the presenting symptom, it is wise to determine if the problem occurs during the actual act of swallowing or during the esophageal phase. The latter is more likely to be a clue to achalasia. Other symptoms may include regurgitation of food and fluids, nocturnal cough, reactive airway symptoms and choking while recumbent, heartburn, halitosis, frequent hiccups, and difficulty belching.15,16 Some patients may be able to develop compensatory behaviors to aid in swallowing, such as throwing back the shoulders while eating to facilitate esophageal emptying.14
Weight loss is generally mild, unless the disease is in its later stages. Screening for achalasia should occur for someone with recurrent episodes of aspiration pneumonia, bronchiectasis, or a finding of a lung abscess because of aspiration. Screening should also be undertaken for any immunocompetent individual presenting with oral candidiasis, which can occur
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Table 2. Diagnostics
with esophageal dysmotility.17 Be aware of the patient presenting with significant weight loss and rapidly progressive dysphagia. This patient, particularly if elderly, may more likely have some type of infiltrating malignancy.9 A list of commonly occurring symptoms is included in Table 1.
DIAGNOSING THE PROBLEM The physical examination is the initial step and should include a comprehensive history. The usual questions should be asked about symptom timing, presentation, severity, aggravating or ameliorating factors, location, and setting. In addition, questions about any family history or compensatory behaviors should be asked. The examination should include a skin assessment to determine whether there are any changes consistent with an autoimmune disorder such as lupus or scleroderma. An examination of the mouth should assess for the presence of masses or lesions as well as hydration status. A complete cardiopulmonary ex- amination should be performed, particularly in the setting of chest pain. It is also necessary to palpate the chest wall and ribs to rule out a musculoskeletal component to the pain. A thorough neurologic ex- amination, especially focused on motor function, should be performed for any complaint of dysphagia. The gastrointestinal examination should include an assessment of stool for occult blood.14
Laboratory and radiology studies should be or- dered based on the history and physical. If the
Table 1. Symptoms of Achalasia
System Symptom
pneumonia
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presenting symptom is chest pain, an electrocardio- gram, echocardiogram, and possible stress test, if indicated, should be performed to rule out cardiac etiology. If a chest x-ray is performed, a widened mediastinum with absence of a gastric air bubble may suggest a diagnosis of achalasia.15 When the presenting symptom is dysphagia, the most sensitive test is a barium swallow. However, the specificity of the barium swallow is poor in early stages of the disease process.14 A finding of a dilated esophagus with a narrowed and beak-shaped LES is indicative of achalasia and warrants a prompt referral to a gastro- enterologist. Radiology is diagnostic in approxi- mately two thirds of the cases, and endoscopy is diagnostic in the remaining third.9 In achalasia, endoscopic findings can appear normal or may show a puckered LES unresponsive to air insufflation but that permits passage of the scope with minimal pressure.18 If esophageal manometry is performed during endoscopy, sensitivity approaches 90%.9
Manometry findings indicative of achalasia are aperistalsis, increased LES pressure, and incomplete sphincter relaxation with swallow.14 Diagnostic procedures are listed in Table 2.
Stress test
Dilated esophagus
future therapy)
TREATMENT OF ACHALASIA Treatment of achalasia may include medications, botulinum toxin (Botox, Teva Pharmaceuticals, Westport, Ireland), pneumatic dilatation, or surgery. None are curative, and all have varying degrees of efficacy. Medications are frequently used as a bridge to more definitive treatments. For example, nitrates and calcium channel blockers, when taken 1/2 to 1 hour before a meal, can enhance smooth muscle relaxation and decrease lower LES pressures in the esophagus. Medication effects are often transient because of tolerance and side effects, which include hypotension, rapid tolerance to effects, headache, constipation, and peripheral edema.19 Research is being conducted to determine if an infusion of sildenafil (Viagra, Pfizer Pharmaceuticals, Cork, Ireland) would be effective because both achalasia and impotence develop because of impaired nitric oxide production.14 Results of a small, randomized controlled trial were promising; however, side effects are decidedly a limiting factor in using this treatment. A subsequent study by Eherer et al20
found that sildenafil lowers LES pressures as well as increases bolus propulsion in the esophagus. Other research is focusing on neural stem cell injection into the esophagus and gene therapy to restore nitric oxideereleasing neurons.14
Botulinum toxin (Botox) can be injected directly into the LES to produce a reduction in LES pressure. This works by inhibiting acetylcholine release at the neuromuscular junction, resulting in improved esophageal emptying and symptom improvement. However, the effects wear off after 1 to 3 months, and injections can only be given every 6 to 12 months.19 Boeckxstaens9 reported fewer relapses when the initial Botox injection is followed by a second injection 1 month later. Reynoso et al21
reported Botox therapy to be associated with very high symptomatic relapse after 2 years. Botox can interfere with subsequent surgery, causing increased risk for mucosal lacerations and decreased long-term favorable outcomes.9 This modality might have more favorable outcomes for those who are unable to tolerate more aggressive treatment. Advantages of Botox include technical ease of use, simplicity, relatively lower cost, and relative safety. Besides possible interference with subsequent procedures,
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complications can include a poor response secondary to antibody production associated from the introduction of a foreign protein and perforation or bleeding. Botox is administered under conscious sedation as an outpatient procedure.19 Treatment options are summarized in Table 3.
Pneumatic dilatation (PD) of the LES performed during a fluroscopically guided endoscopic procedure under conscious sedation is not a cure but is recog- nized as a safe and effective treatment method. Long- term follow-up shows 32% of PD patients require some additional treatment.1 PD is 70% to 90% effective over the first 5 years.9 During the procedure, muscle fibers are torn, weakening the LES. No consensus exists regarding optimal inflation pressure or duration of inflation, although in a meta- analysis most initial procedures used a 30-mm dilator with subsequent procedures using 35-mm dilation.20
Predictors of therapeutic failure include male sex, age less than 40 years, a wide esophagus, small balloon size, single dilatation, LES pressure > 10 mm Hg after the procedure, and poor esophageal emptying after the procedure.9 A serious side effect from PD is esophageal perforation, which can be visualized by a postprocedure esophagram.22 Interval follow-up is necessary. Repeat procedures can be performed in the event of failure.
Surgical myotomy is frequently used for failed PD but may also be used as an initial procedure for younger patients. Lower esophageal muscles fibers are cut during this procedure. It can be per- formed by thoracoscopy, laparoscopy, or via a conventional thoracic or abdominal incision. Most initial procedures are performed via laparoscopy.23
Fundoplication can be performed during the
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procedure to decrease reflux symptoms after surgery. Mortality rates of approximately 0.3% are comparable with that of PD. In addition, laparoscopic myotomy has better outcomes and lower hospital days compared with conventional surgical procedures.21
Complications can include reflux, esophageal ulceration, stricture, and Barrett esophagus.
Peroral endoscopic myotomy, a laparoscopic procedure, adds a submucosal tunnel to access and dissect the muscular circular layer of the esophagus.23
This procedure reduces postmyotomy reflux without an additional fundoplication and may potentially reduce the incidence of carcinoma. Peroral endoscopic myotomy is a less invasive procedure with minimal complications.24 Patients are generally discharged to home the day after the procedure on a liquid diet, and few subsequently complain of reflux symptoms.25 Success rates have reportedly been 89% to 100% over a 6-month period. Studies with longer- term follow-up show decreasing efficacy, with rates from 82% at 1 year to 80% after 2 years. Serious complications were reported to be low. Reflux esophagitis occurs approximately 18% of the time and requires treatment with long-term proton pump inhibitors.26
DISCUSSION The American Society for Gastrointestinal Endos- copy guidelines note a high prevalence of esophageal squamous cell carcinoma in the achalasia patient population, ranging from 0.4% to 9.2%.27 According to most studies cited by the group, risk ranges from 7- to 33-fold. There is no indication if any of the aforementioned treatments affect cancer risk. Adenocarcinoma has also been noted after myotomy, particularly in patients with resultant Barrett esophagus. The mean age at diagnosis ranges from 48 to 71 years. Most patients have achalasia for at least 15 years before the diagnosis of esophageal cancer is made. Prognosis for these patients is poor.27
Lifestyle and behavior modifications are an important part of the achalasia patient’s treatment. This should include tobacco and alcohol cessation. Learning how to decrease stress is another strategy that should be encouraged, using counseling if necessary. Regular rest, exercise, and a healthy diet are also very important. Cooked foods and nutritious
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fluids should be recommended because they are easily swallowed and pass through the LES with relative ease. Small, frequent meals are more appropriate, especially for those awaiting procedures. Meals should be eaten slowly and deliberately, avoiding tension, anxiety, and multitasking. Sitting or standing with erect posture during mealtime facilitates the passage of food.14 Medications can be ordered in liquid, rapid dissolving, or rectal forms for those unable to swallow noncrushable pills.
Postprocedure quality of life (QOL) has been addressed in a few studies. Garrigues et al28 reported a disease-specific, health-related QOL was significantly improved from preprocedure to post-PD or Hellar myotomy with posterior partial fundoplication. Their survey instrument revealed the magnitude of prob- lems affecting a patient such as fatigue, frustration, decreased physical strength, sleep issues, and impaired physical relationships. Postprocedure surveys showed improvement in all areas. An interesting finding was that residual mild symptoms after therapy did not impact the QOL scores.28 Patient anecdotal postings on various Internet Web pages also speak to the emotional and functional problems associated with the disease and treatments.
FOLLOW-UP OF CASE STUDY Mrs. M. was referred to a cardiothoracic surgeon who subsequently performed a Heller myotomy with fundoplication. Currently, Mrs. M.’s symptoms are manageable, although not resolved. Her weight has returned to normal and stabilized. There has been no further regurgitation. Symptoms have been managed by limiting irritants such as caffeine, alcohol, and spicy foods; eating small, frequent meals; and sleeping elevated on a wedge pillow. Mrs. M. follows up with a gastroenterologist annually with endoscopy as rec- ommended. Although American College of Gastro- enterology guidelines do not recommend annual surveillance endoscopy, individual specialists often advocate this practice based on patient-specific indications.
CONCLUSION Although rare, because of the poor outcomes and quality of life, achalasia should be included in the differential diagnosis for patients presenting with
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