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Snapshot
  • A 45-year-old man presents to his primary care physician complaining of difficulty swallowing solids and liquids for the past 5 months. He also reports unintentional weight loss of 20 lbs over the past 3 months. The patient denies any fever, diarrhea, or dyspnea but endorses chest pain that is worse following food ingestion. His past medical history is unremarkable except for an episode of dengue fever when he was traveling in South America 1 year ago. A barium study is subsequently ordered. 
Introduction
  • Clinical definition 
    • motor disorder of the distal esophagus secondary to progressive degeneration of the Auerbach plexus (ganglion cells in the myenteric plexus)
  • Epidemiology
    • incidence of 1.6 cases per 100,000 individuals
    • demographics
      • occurs equally among men and women
      • diagnosis occurs between the ages of 25 and 60 years
    • risk factors
      • Chagas disease
      • other diseases such as scleroderma (see etiology)
  • Etiology
    • the etiology of primary/idiopathic achalasia is unknown
    • secondary achalasia occurs due to diseases that cause esophageal motor abnormalities
      • Chagas disease
        • protozoan parasite Trypanosoma cruzi destroys intramural ganglion cells
      • other diseases include amyloidosis, scleroderma, sarcoidosis, neurofibromatosis, Fabry disease, and eosinophilic esophagitis.
  • Pathogenesis
    • inflammation and degeneration of neurons of Auerbach plexus
      • the cause of the degeneration is unknown but may be autoimmune as suggested by the association with variants in the HLA-DQ regions in affected patients and the presence of antibodies to enteric neurons
    • primarily leads to loss of nitric oxide-producing, inhibitory neurons that affect the relaxation of esophageal smooth muscle
      • results in loss of normal relaxation of the lower esophageal sphincter (LES) and rise in basal sphincter pressure
      • results in aperistalsis
Presentation
  • Symptoms
    • dysphagia for solids and liquids
    • regurgitation
    • difficulty belching
    • vomiting
    • heartburn/substernal chest pain
    • weight loss
Studies 
  • Diagnostic testing
    • diagnostic approach
      • clinical suspicion is established if the patient has
        • dysphagia to solids and liquids
        • heartburn unresponsive to proton pump inhibitor trial
        • retained food in the esophagus on upper endoscopy
        • unusually increased resistance to the passage of an endoscope through the esophagogastric junction (EGJ)
    • imaging
      • chest radiography
        • may demonstrate mediastinal widening
      • barium esophagram 
        • not a sensitive test for achalasia, as it may be interpreted as normal in up to 1/3 of patients
        • positive findings include
          • dilation of the proximal esophagus
          • “bird-beak” appearance at the esophageal sphincter
          • aperistalsis
          • delayed emptying of barium
      • upper endoscopy  
        • esophageal mucosa usually appears normal
        • often performed after esophageal manometry to rule out malignancy
      • esophageal manometry 
        • gold standard of diagnosing achalasia 
        • high-resolution manometry (vs. conventional manometry) allows for categorization of the achalasia subtype, which can guide management
        • findings include increased LES pressure, inability of the LES to relax, decreased peristalsis, and diffuse esophageal spasm
  • Diagnostic criteria
    • aperistalsis in distal 2/3 of the esophagus
    • incomplete lower esophageal sphincter relation on manometry
Differential
  • Gastroesophageal reflux disease (GERD) 
    • distinguishing factor
      • regurgitated food is typically sour tasting in GERD due to the presence of gastric acid
      • will have nonspecific findings on manometry
  • Pseudoachalasia due to malignancy
    • distinguishing factor
      • may have the same manometry findings but can be differentiated from achalasia via upper endoscopy
Treatment
  • First-line
    • surgical management
      • the preferred option for patients who have an average surgical risk, though the efficacy of treatments decreases over time
        • 1/3-1/2 of patients will require repeat treatment within 10 years
      • endoscopic balloon dilation of LES
        • cure rate of 80%
        • complication of perforation in < 3% of patients
      • myotomy with fundoplication
        • similar outcomes to that of dilation
      • peroral endoscopic myotomy (POEM)
        • endoscopic technique that allows for myotomy of more proximal esophageal muscle
  • Second-line
    • botulism toxin injections
      • offered to patients who are at high risk for complications  
      • high initial success but have more frequent relapses and a shorter time to relapse compared to operative treatments
  • Other treatments
    • pharmacological treatments (e.g., nifedipine, nitrates, or calcium channel blockers) are often ineffective and are limited by side effects
      • indicated in patients who fail treatment with botulism toxin
Complications
  • Increased risk of esophageal cancer
  • Ulceration and bleeding
 

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Questions (3)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
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(M2.GI.4) A 37-year-old man presents to his primary care provider with dysphagia. He notes that his symptoms began several weeks ago and have worsened over time. He now has trouble swallowing solids and liquids. He denies any other symptoms. He has no significant past medical history. Travel history reveals a recent trip to South America but no other travel outside the United States. His temperature is 100°F (37.8°C), blood pressure is 120/81 mmHg, pulse is 99/min, respirations are 14/min, and oxygen saturation is 98% on room air. HEENT exam is unremarkable. He has no palpable masses in his abdomen. What is the most appropriate next step in management? Review Topic

QID: 101898
1

Barium swallow

10%

(8/84)

2

Endoscopy

74%

(62/84)

3

Manometry

13%

(11/84)

4

Myotomy

0%

(0/84)

5

Nifurtimox

2%

(2/84)

M2

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SUBMIT RESPONSE 1

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(M2.GI.4694) A 45-year-old male presents to your clinic with complaints of heartburn and progressive difficulty swallowing both liquids and solids over the past two years. He has been taking an over-the-counter proton pump inhibitor for the past 6 months without resolution of his symptoms. He is otherwise healthy and has no personal or family history of cancer. He is a nonsmoker. You order a barium swallow study, the results of which are shown in Figure A. What would you expect to see on manometry in this patient? Review Topic

QID: 107837
FIGURES:
1

Normal esophageal motility with normal relaxation of the lower esophageal sphincter

0%

(0/17)

2

Normal esophageal motility with increased tone of the lower esophageal sphincter

29%

(5/17)

3

Absent peristalsis in the distal esophagus and decreased resting tone of the lower esophageal sphincter

18%

(3/17)

4

Simultaneous esophageal contractions

0%

(0/17)

5

Absent peristalsis in the distal esophagus and increased resting tone of the lower esophageal sphincter

47%

(8/17)

M2

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SUBMIT RESPONSE 5
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