Snapshot A 41-year-old man presents to the clinic complaning of substernal chest pain and regurgitation of undigested food. He also reports having difficulty swallowing both solid and liquids. A barium esophgram demonstrates a dilated proximal esophagus with a narrow tapering. Introduction Motor disorder of the distal esophagus secondary to progressive degeneration of the Aurbach 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 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, sarcoidosis, scleroderma, neurofibromatosis, Fabry disease, and eosinophilic esophagitis. Pathogenesis inflammation and degeneration of neurons of the Aurbach’s 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 Prognosis disease is progressive without treatment that ultimately leads to end-stage achalasia characterized by esophageal tortuosity, angulation, and megaesophagus (diameter >6 cm) Presentation Symptoms dysphagia for solids and liquids regurgitation difficulty belching vomit heartburn/substernal chest pain weight loss Imaging 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 1) dilation of the proximal esophagus 2) “bird-beak” appearance at the esophageal sphincter 3) aperistalsis 4) delayed emptying of barium Upper endoscopy may reveal dilated esophagus that contains residual material esophageal mucosa usually appears normal often performed after esophageal manometry to rule out malignancy Esophageal manometry gold standard - required to establish diagnosis 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 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 Medical management Botulism toxin injections High initial success but have more frequent relapses and a shorter time to relapse compared to operative treatments often second-line therapy offered to patients who are high risk for complications 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 Operative preferred option for patients who have average surgical risk though the efficacy of treatments decreases over time 1/3 to ½ 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) new endoscopic technique that allows for myotomy of more proximal esophageal muscle Complications Esophageal carcinoma ↑ risk of esophageal squamous cell carcinoma secondary to chronic irritation from food stasis ulceration and bleeding
QUESTIONS 1 of 3 1 2 3 Previous Next Lab Values Blood Hematologic Cerebrospinal Sweat, Urine, and BMI 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/LFemale: 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/mLFemale: 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/dL2-h postprandial:<120 mg/dL Growth hormone - arginine stimulation Fasting: <5 ng/mLProvocative 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/mm3Female: 3.5-5.5 million mm3 Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/hFemale: 0-20 mm/h Hematocrit Male: 41%-53%Female: 36%-46% Hemoglobin A1c ≤ 6 % Hemoglobin, blood Male: 13.5-17.5 g/dLFemale: 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/kgFemale: 28-45 mL/kg Red cell Male: 20-36 mL/kgFemale: 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/minFemale: 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 hFemale: 2.0-8.0 mg/24 h 17-Ketosteroids, total Male: 8-20 mg/24 hFemale: 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 Calculator ( ) xy AC 7 8 9 ÷ 4 5 6 × 1 2 3 - 0 . = + Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK You have 100% on this question. Just skip this one for now. Take This Question Anyway (M1.GI.84) A 48-year-old female visits your office complaining that she has trouble swallowing solids and liquids, has persistent bad breath, and sometimes wakes up with food on her pillow. Manometry studies show an absence of functional peristalsis and a failure of the lower esophageal sphincter to collapse upon swallowing. The patient’s disorder is associated with damage to which of the following? Review Topic | Tested Concept QID: 101141 Type & Select Correct Answer 1 Lamina propria 2% (1/50) 2 Submucosa 2% (1/50) 3 Myenteric (Auerbach’s) plexus 82% (41/50) 4 Submucosal (Meissner’s) plexus 4% (2/50) 5 Muscularis mucosa 8% (4/50) M1 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3
All Videos (1) Podcasts (0) Login to View Community Videos Login to View Community Videos Achalasia Chris Battista Gastrointestinal - Achalasia 4/1/2013 32 views