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Digestive System Diseases
A reference to diseases of the digestive system, covering affected organs, causes, symptoms, diagnostic methods, treatment approaches and prognosis.
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A reference to diseases of the digestive system, covering affected organs, causes, symptoms, diagnostic methods, treatment approaches and prognosis.
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| # | TextNo. | TextDisease Name | TextCategory | TextPrimary Cause / Etiology | TextPrevalence | TextAge of Onset | TextKey Symptoms | TextAffected Organ(s) | TextDiagnostic Method | TextTreatment Approach | TextPrognosis | TextICD-10 Code |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 1 | Achalasia | Esophageal Diseases | Loss of inhibitory neurons (nitric oxide and VIP-producing) in the myenteric plexus; autoimmune-mediated ganglion cell degeneration; possible viral trigger (HSV-1); results in impaired LES relaxation and absent esophageal peristalsis; Chagas disease (secondary achalasia in South America) | Annual incidence 1-3 per 100,000; prevalence ~10 per 100,000; equal male/female ratio; no racial predominance; Chagas-related achalasia affects ~6 million in endemic areas | Bimodal distribution: 20-40 years and >60 years; mean age at diagnosis 50 years; can occur at any age including children; Chagas-related onset earlier | Progressive dysphagia to solids AND liquids (distinguishing from mechanical obstruction); regurgitation of undigested food; chest pain; weight loss; nocturnal cough/aspiration; heartburn (paradoxical from fermentation); difficulty belching | Esophageal body; lower esophageal sphincter; myenteric (Auerbach's) plexus | High-resolution manometry (HRM) gold standard — Chicago classification v4.0 (Types I, II, III); timed barium swallow (bird-beak sign, dilated esophagus); upper endoscopy to exclude pseudoachalasia (malignancy); functional lumen imaging probe (FLIP); CT/EUS if malignancy suspected | Pneumatic dilation (30-35mm balloon, 80-90% initial response); Heller myotomy (laparoscopic with Dor fundoplication, >90% success); peroral endoscopic myotomy (POEM, >90% success, higher GERD rates); botulinum toxin injection (temporary, 60-70% response for 6-12 months); pharmacologic (nifedipine, nitrates — limited efficacy); Type II best response to all treatments | Good with treatment; Type II achalasia best prognosis (96% response to treatment); Type I intermediate; Type III more difficult to treat; long-term risk of esophageal squamous cell carcinoma (3-8% over 25 years); POEM and Heller myotomy durable >10 years | K22.0 |
| 02 | 2 | Barrett's Esophagus | Esophageal Diseases | Chronic GERD causing intestinal metaplasia of squamous esophageal epithelium; replacement by specialized columnar epithelium with goblet cells; risk factors include chronic GERD >5 years, male sex, Caucasian race, obesity, smoking, family history | Prevalence 1.6-6.8% of patients undergoing EGD; ~1.5-2% of general population; ~3.3 million adults in US; male-to-female ratio 2:1; higher in Caucasians | Mean age at diagnosis 55 years; rare before age 20; predominantly males >50 years; risk increases with duration of GERD symptoms | Often asymptomatic; symptoms are those of underlying GERD (heartburn, regurgitation); dysphagia if stricture develops; may have reduced GERD symptoms due to reduced acid sensitivity of metaplastic epithelium | Distal esophagus; gastroesophageal junction; columnar-lined esophagus | Upper endoscopy with systematic 4-quadrant biopsies every 1-2cm (Seattle protocol); histological confirmation of intestinal metaplasia with goblet cells; Prague C&M criteria for extent classification; chromoendoscopy; confocal laser endomicroscopy | Aggressive PPI therapy (high-dose); surveillance endoscopy every 3-5 years (non-dysplastic); radiofrequency ablation (RFA) for dysplasia; endoscopic mucosal resection (EMR) for visible lesions; cryotherapy; photodynamic therapy; esophagectomy for high-grade dysplasia refractory to endoscopic treatment | Non-dysplastic: annual progression to cancer 0.3-0.5%; low-grade dysplasia: 0.5-1.7%/year; high-grade dysplasia: 5-10%/year cancer risk; RFA eliminates dysplasia in >90%; excellent prognosis with surveillance and early intervention | K22.7 |
| 03 | 3 | Eosinophilic Esophagitis (EoE) | Esophageal Diseases | Chronic immune/antigen-mediated esophageal disease; food allergens (milk, wheat, egg, soy, nuts, seafood) most common triggers; aeroallergens may contribute; Th2-mediated immune response; IL-13 and IL-5 driven eosinophilic infiltration; genetic predisposition (TSLP, calpain-14 polymorphisms); associated with atopic diseases | Prevalence 34-56 per 100,000 in adults; increasing incidence; ~1 in 2,000; most common cause of food impaction and dysphagia in young adults; male-to-female ratio 3:1; predominantly Caucasian; seasonal variation | Bimodal: children (mean 8 years) and adults (mean 30-40 years); predominantly males; strong association with atopic history (asthma, eczema, allergic rhinitis in 50-80%) | Adults: dysphagia to solids (70%), food impaction (33-50%), chest pain, heartburn not responding to PPIs; Children: feeding difficulties, vomiting, abdominal pain, failure to thrive; food avoidance behaviors; symptoms often present for years before diagnosis | Esophageal epithelium; entire length of esophagus; proximal > distal in children; distal > proximal in adults | Upper endoscopy with >=6 biopsies from proximal and distal esophagus; histology: >=15 eosinophils per high-power field; endoscopic features (rings, furrows, white exudates, strictures, crepe paper mucosa); EREFS scoring system; allergy testing (skin prick, patch testing); exclude other causes of esophageal eosinophilia | PPI therapy (omeprazole 20-40mg BID, ~50% respond); topical swallowed corticosteroids (fluticasone 880mcg-1760mcg/day or budesonide oral viscous suspension 1-2mg BID); elimination diets (6-food, 4-food, 2-food, or targeted); dupilumab (first FDA-approved biologic for EoE, 300mg weekly); endoscopic dilation for strictures; maintenance therapy required to prevent recurrence | Chronic relapsing condition; not associated with mortality; risk of esophageal stricture and narrowing increases with untreated disease duration; no progression to malignancy; excellent quality of life with treatment; dupilumab achieves histologic remission in 60% | K20.0 |
| 04 | 4 | Esophageal Adenocarcinoma | Esophageal Diseases | Arises from Barrett's esophagus metaplasia-dysplasia-carcinoma sequence; chronic GERD; obesity (visceral); tobacco use; male sex; Caucasian ethnicity; dietary factors (low fruit/vegetable intake) | Incidence rising 6-fold since 1970s in Western countries; ~8 per 100,000 in US males; accounts for ~60% of esophageal cancers in developed nations; ~600,000 new esophageal cancer cases globally (GBD 2019) | Peak incidence 60-70 years; male-to-female ratio 7:1; increasing incidence in younger males; rare before age 40 | Progressive dysphagia (solids then liquids); unintentional weight loss; odynophagia; chest or back pain; iron deficiency anemia; hoarseness if recurrent laryngeal nerve involvement; hematemesis; early satiety | Distal esophagus; gastroesophageal junction; may extend to gastric cardia | Upper endoscopy with biopsy (diagnostic); endoscopic ultrasound (EUS) for T-staging; CT chest/abdomen/pelvis for staging; PET-CT for metastatic evaluation; staging laparoscopy; biomarkers (HER2, PD-L1 expression) | Early stage: endoscopic mucosal resection or submucosal dissection (T1a); esophagectomy (Ivor Lewis or McKeown); neoadjuvant chemoradiation (CROSS regimen: carboplatin/paclitaxel + 41.4 Gy) then surgery; perioperative chemotherapy (FLOT); definitive chemoradiation for unresectable; palliative stenting; immunotherapy (nivolumab adjuvant for residual disease); trastuzumab if HER2+ | Poor overall; 5-year survival 20% all stages; 47% for localized; 25% regional; 5% distant metastases; neoadjuvant therapy improves survival by 10-15%; early detection in Barrett's surveillance improves outcomes significantly | C15.5 |
| 05 | 5 | Esophageal Diverticulum (Zenker's) | Esophageal Diseases | Pulsion diverticulum through Killian's dehiscence (weakness between thyropharyngeal and cricopharyngeal muscles of inferior pharyngeal constrictor); cricopharyngeal muscle dysfunction with elevated UES pressure; false diverticulum (mucosa and submucosa only); associated with aging and reduced muscle compliance | Prevalence 0.01-0.11% of general population; most common esophageal diverticulum; incidence 2 per 100,000/year; predominant in Northern Europe; rare in Asia and Africa | Almost exclusively >60 years; peak incidence 70-80 years; male predominance (male-to-female ratio 3:1); extremely rare before age 40 | Progressive dysphagia; regurgitation of undigested food (hours after eating); halitosis; gurgling noise during swallowing; neck swelling (left side); aspiration pneumonia; weight loss; voice changes; feeling of lump in throat | Killian's dehiscence (pharyngoesophageal junction); posterior hypopharynx; between thyropharyngeal and cricopharyngeal muscles | Barium swallow (study of choice — shows posterior outpouching at pharyngoesophageal junction); direct laryngoscopy; upper endoscopy (perform cautiously due to perforation risk); CT neck; manometry (usually not needed) | Observation for small asymptomatic diverticula (<1cm); endoscopic diverticulotomy (flexible or rigid, first-line for most patients); Dohlman procedure (rigid endoscopic stapling); cricopharyngeal myotomy; open surgical diverticulectomy or diverticulopexy with myotomy for large diverticula (>5cm); per-oral endoscopic myotomy for Zenker's (Z-POEM) | Good with treatment; endoscopic treatment success >90%; recurrence rate 5-15%; operative mortality <1%; untreated may lead to aspiration pneumonia and malnutrition; normal lifespan with treatment | K22.5 |
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