Disorders of Gastrointestinal Function – Key Vocabulary

A set of 57 vocabulary flashcards covering key anatomical structures, diagnostic tests, and major disorders of the esophagus, stomach, small intestine, and large intestine, suitable for exam review.

Esophagus

• A muscular tube that connects the throat to the stomach, the esophagus transports food and liquids for digestion.

• transport achieved by coordinated peristaltic contractions and relaxation of upper and lower esophageal sphincters

• submucosal layer lubricates wall - aids in passage of food

Upper Esophageal Sphincter (UES)

Pharyngoesophageal muscular ring that relaxes to allow passage of a bolus from the pharynx into the esophagus.

Lower Esophageal Sphincter (LES)

Gastroesophageal sphincter located at the junction with the stomach that prevents reflux of gastric contents.

Hiatus

Small opening in the diaphragm through which the esophagus passes before joining the stomach at the gastroesophageal junction (GEJ)

Gastric Mucosal Barrier

• epithelial cell surface containing thick mucus impermeable to stomach acid secretions & pepsin → protects stomach lining

• WEAKNESS: aspirin + alcohol → increased permeability → results in acute erosions

Regurgitation

Passive movement of stomach contents into the pharynx or mouth without forceful muscular contraction.

Vomiting

Forceful movement of stomach contents through mouth by autonomic and voluntary muscle contractions, sometimes triggered by reflux

Esophageal Motility Study (EMS)

Test that measures motor function of the UES, esophageal body, and LES using a pressure-sensing catheter placed in nose through to stomach

Barium Swallow (Esophagogram)

• Fluoroscopic imaging test in which a patient drinks barium contrast to diagnose problems in upper GI tract

• used to diagnose: ulcers, hiatal hernia, GERD, structural problems in GI tract (polyps, diverticula), dysphagia

Esophageal Atresia (EA)

• Def: Congenital malformation of the upper GI tract

• prognosis: good depending on cardiac and chromosomal abnormalities associated

• diagnosis: ultrasound detecting polyhydraminos, fluoroscopic x-ray proving failure in passing orogastric tube

• treatment: intubation, catheter to suction secretions, antibiotics/IV fluids/NPO, total parenteral nutrition, surgical repair

• clinical manifestations: excessive drooling, failure to pass nasogastric tube, choking, respiratory distress, cyanotic episodes during feeding

Tracheoesophageal Fistula (TEF)

• failure of separation or complete development of common foregut tube

• commonly leads to TEF/EA - 90% of cases; or congenital anomalies (usually cardiac) - 50% of cases

• clinical manifestations: reflux —> aspiration pneumonia, resp distress, feeding difficulties, choking, bloating

• diagnosis: maternal polyhydraminos and absence of fetal stomach bubble

Dysphagia

• Disorder common in the elderly that causes difficulty or impairment in swallowing that delays transit of liquids or solids.

• Mechanical obstructive cases (solid food) - esophageal stricture, esophageal carcinoma, or esophagitis

• motility disorders (solid and liquid) - esophageal spasm, achalasia, and ineffective esophageal motility/scleroderma

• complications: risk of aspiration, aspiration induced pneumonia, malnutrition, decrease life quality, prolonged hospital/ICU stay, increased morbidity and mortality

• risk factors: elder age, stroke, dementia

• management - dependent on cause and conditions

Achalasia

• uncommon esophageal smooth muscle motility disorder in which failure of LES relaxation causes functional obstruction at the GEJ

• clinical manifestations: dysphagia and regurgitation (most common); weight loss, chest pain, symptoms of regurgitation - aspiration, nocturnal cough, and heartburn

• diagnosis: best initial test - barium esophagogram; endoscopy; EMS (gold standard/most sensitive)

Esophageal Diverticulum

• Rare disease - outpouching of esophageal mucosa

• clinical manifestations: usually asymptomatic; regurgitation & dysphasia; aspiration pneumonia, weight loss, halitosis, cough; hyper salivation, sensation of food in throat

Mallory-Weiss Syndrome (MWS)

• ONE of the most common causes of upper GI bleeding characterized by presence of longitudinal mucosal lacerations (MW tears) at GEJ

• diagnosis: endoscopy

• risk factors: most common - alcohol; regurgitation - bulimia nervosa, hyperemesis gravidarum, GERD

• clinical manifestations - sometimes asymptomatic, hematemesis (most common); severe bleeding - melena, dizziness, syncope; epigastric pain

Hiatal Hernia

• Congenital or acquired disorder where upper stomach or other internal organs bulges through hiatus, predisposing to GERD

• treatment - small → asymptomatic & managed medically; large → requires surgery

• risk factors: old age - muscle weakness; elevated intraabdominal pressure - obesity, pregnancy, chronic constipation, COPD; trauma, previous surgeries, genetics

• clinical manifestations: heart burn (most common), GERD

Gastroesophageal Reflux Disease (GERD)

• upper esophageal condition caused by abnormal reflux of stomach content into esophagus with or without accompanied regurgitation and vomiting

• treatment - lifestyle changes and/or medication

• diagnosis - barium swallow or endoscopy

• clinical manifestations - typical symptoms: heartburn and sensation of regurgitation; atypical: chronic cough, asthma, hoarseness, dyspepsia, nausea

Esophagitis

Inflammation or injury of the esophageal mucosa

• risk factors: GERD → erosive esophagitis (most common); radiation, infections, local injury caused by meds, pill esophagitis, eosinophilic esophagitis (EoE)

• clinical manifestations: most common - CP, odynophagia, dysphagia; food impaction; symptoms related to strictures, fistualization, perforation

Barrett Esophagus (BE)

• Common condition associated w GERD; premalignant change to the esophagus - only known precursor to esophageal adenocarcinoma (highly lethal cancer)

• risk factors - GERD; obesity, 50+ age, male, tobacco, family history of BE or esophageal adenocarcinoma

• diagnosis - biopsy

Gastritis

• Inflammation of the stomach lining; classified as acute or chronic, histological features, anatomic distribution, and underlying pathological mechanisms

• no typical clinical manifestations

Acute Gastritis

• Transient acute gastric mucosal inflammation associated w emesis, pain, hemorrhage, and ulceration - causes erosion and may lead to acute GI bleeding

• most commonly caused by - aspirin or other NSAIDs, alcohol, bacterial toxins, oral corticosteroids, serious illness, trauma, uremia, chemo, gastric radiation

Chronic Gastritis

• presence of grossly visible erosions and chronic inflammatory changes which lead to atrophy of glandular epithelium of stomach

• most commonly caused by Helicobacter pylori - transmission is via fecal-oral route

• H. pylori associated treatment - antibiotics, invasive methods - gastroscopy and biopsies, noninvasive methods - urease breath test (13C-UBT), fecal antigen test, and serology

Chronic Atrophic Gastritis (CAG)

• Premalignant lesions caused by gastric atrophy (GA) and intestinal metaplasia of gastric mucosa (GIM) - chronic inflammation causes loss of gastric mucosa leading to acid depleted environment - can lead to gastric adenocarcinoma

• etiologies: H. pylori and autoimmune gastritis

• more prevalent in older population

Peptic Ulcer

• Mucosal break in the stomach or duodenum resulting from an imbalance in protective factors and damaging factors, usually caused by H. pylori or NSAIDs, that may bleed or perforate and hold a high risk of mortality

• diagnosis: endoscopy and barium swallow

• treatment: proton pump inhibitor (PPIs) facilitates healing and prevents complications and recurrence

• non specific symptoms - epigastric or retrosternal pain, early satiety, nausea, bloating, belching, or postprandial distress

Zollinger-Ellison Syndrome (ZES)

• group of symptoms (severe peptic ulcer disease, GERD, and chronic diarrhea) caused by a gastrinoma resulting in increased stimulation of acid secreting cells

• associated with multiple endocrine neoplasia type 1 (MEN1)

• most common symptoms - abdominal pain, diarrhea, and heartburn

• complications - bleeding and perforation of GI tract (esophagus, stomach, and duodenum); death from surgery

Gastric Cancer

• second most common cause of cancer death world wide (NOT in US)

• risk factors - age, sex, race/ethnicity, genetics, H. pylori, EBV, HER2 gene mutation, smoking, diets high in nitrates and nitrites

• symptoms - dyspepsia, reflux, dysphagia, weight loss, GI bleeding, anemia, emesis

• diagnosis - chest/abdomen/pelvic CT scans, barium x ray studies, endoscopic studies w biopsy, cytologic studies

• treatment - endoscopic/surgical resection, chemo, radiation

Irritable Bowel Syndrome (IBS)

• common multifactorial, chronic disorder with symptoms caused by GI dysmotility, inflammation, visceral hypersensitivity, and altered intestinal microbiota characterized by abdominal pain and alterations in bowel habits

• patients suffer from GI distress and psychological disorders

• risk factors - diet, stress, genetics, environmental factors, familial susceptibility

• symptom onset greater than 6 months and recurrence at least 3 days per month during last 3 months

• two or more required for diagnosis: abdominal pain must be improved w defecation, change in form of stool, or frequency of stool

• Rome III classification: IBS-C, IBS-D, IBS-M, IBS-U

Inflammatory Bowel Disease (IBD)

• Chronic relapsing inflammation of the GI tract caused by abnormal immune response to gut microflora

• encompasses ulcerative colitis (UC) and Crohn disease (CD)

• acute complications - intestine obstruction

• clinical manifestations - diarrhea, fecal urgency, weight loss, axial arthritis, oligoarticular arthritis, uveitis, skin lesions, stomatitis, autoimmune anemia, hypercoagulabllity of blood, sclerosis cholangitis

• in children.- growth retardation

Crohn Disease (CD)

• Transmural, recurrent granulomatous inflammation with skip lesions that can affect any part of GI segment (commonly ileum or cecum)

• slowly progressive, relentless, and often disabling with no cure

• diagnose - sigmoidoscopy, barium enema, CT

• surface of inflamed bowel has “cobblestone” appearance

• bowel wall becomes thickened and inflexible; adjacent mesentery becomes inflamed, regional lymph nodes enlarged

• clinical manifestations: diarrhea, abdominal pain, weight loss, fluid and electrocyte disorders, malaise, low grade fever; ulceration of perianal skin; nutritional deficiency; malnutrition and growth retardation in children

Ulcerative Colitis (UC)

• nonspecific, confluent and continuous inflammatory condition of colon listed to mucosa and submucosa and confined to rectum and colon; usually beginning in rectum and spreading to mucosal layer

• peak incidence between 15-25 years of age with unknown etiology

• colectomy is curative; inflammatory lesions may become necrotic and ulcerate

• clinical manifestations: intermittent diarrhea attacks, bloody mucus filled stools, nocturnal diarrhea when daytime symptoms severe, mild cramping and fecal incontinence; anorexia, weakness, and fatigability; same systemic manifestations as IBD

Infectious Enterocolitis

• Inflammatory diarrheal illness of bacterial, viral, or parasitic origin accounting for majority of cases presenting with acute diarrhea

• symptoms - purulent, bloody, and mucoid loose bowel movements, fever, tenesmus, and abdominal pain; rectal pain, urgency

• common bacterial causes - campylobacter jejune, Salmonella, Shigella, E.coli, Yersinia enterocolictica, Clostridium difficile, and Mycobacterium TB

• common viral causes - norovirus, rotavirus, adenovirus, cytomegalovirus

• parasitic infection - entamoeba histolytica (protozoan parasite)

• STIs may affect rectum - occur in patients w HIV and MLM

• diagnosis: stool microscopy and culture, endoscopy, biopsy

• treatment: depends on causative agent

• duration: lasts approx 7 days w severe cases lasting several weeks

Diverticula

• multiple sac-like protrusions develop along GI tract, more often in large intestine (most common in sigmoid colon)

• mostly asymptomatic

• risk factors - obesity, abnormal colonic motility (intestinal spasms or dyskinesis)

• treatment - increasing fiber and fluids; medical treatment for diverticulitis; surgery

• clinical manifestations - painless rectal bleeding or unexplained pain and cramping, altered bowel movements

• prognosis is good w management

• diagnosis - colonoscopy or X ray w barium edema; CT of abdomen

Diverticulitis

• Inflammation and infection of a colonic diverticulum causing LLQ pain, abdominal pain, fever, leukocytosis, constipation, diarrhea, nausea; may lead to abscess, intestinal obstruction, retroperitoneal fibrosis, and sepsis

• occurs as result of stool collecting in diverticulum

Appendicitis

• Acute (within 24 hours of onset) inflammation of the vermiform appendix, presenting with RLQ, leukocytosis, malaise, N&V, anorexia, urinary frequency or urgency; with abcess - fever; with perforation - peritonitis

• occurs between ages 5-45 and mean age of 28

• diagnosis - ultrasound, CT

• treatment - laparoscopic surgery

• caused by obstruction of appendiceal lumen - appendicolith, tumor, hypertrophied lymphatic tissue → bacteria build up

Intussusception

• Telescoping of one segment of intestine into another, leading to obstruction, ischemia, necrosis, perforation, and sepsis ; common in children.

• in adults - cause is usually from pathology like a neoplasm

• usually involves small bowel

• treatment: pain meds, antiemetics, IV hydration, nasogastric tube, and possible antibiotics, surgery

• diagnosis: CT and ultrasound

• clinical manifestations: crampy abdominal pain, vomiting, bloating, bloody stool, bowel obstruction, with necrosis and sepsis - hypo/hyperthermia, hypotension, and tachycardia, with perforation - peritonitis

Volvulus

Twisting of a bowel loop and its mesentery, causing obstruction, necrosis, ischemia, sepsis, and perforation

symptoms - abdominal distension, severe pain, vomiting, constipation, fever, and bloody stools

risk factors- intestinal malrotation, Hirschsprung disease, enlarged colon, long mesentery, pregnancy, abdominal adhesions, and chronic constipation

diagnosis - plain radiograph, ultrasound and upper GI study

treatment - endoscopic decompression and surgery

Diarrhea

• Increase in stool water content due to malfunction of sm. and lg. intestine and results from increased water secretion or decreased water absorption; classified as acute or chronic and infectious or non-infectious.

• prevention of infectious diahrrea- handwashing

• management

  • rehydration - IV fluids in severe cases

  • low fiber foods

  • BRAT diet - bland diet

• acute = infectious; 3+ wet poops a day for 14 days or less

• chronic = episode longer than 14 days; noninfectious; watery, fatty, or infectious

Lactose Intolerance

• increased water secretion causing bloating and flatulence w watery diarrhea

• decrease/absence of lactase → increased presence of lactose which retains and attracts water

Fatty Diarrhea (Steatorrhea)

• Malabsorption of fats, often from celiac disease or chronic pancreatitis, causing upper abdominal pain, flatulence, and foul smelling bulky pale stools

• chronic pancreatitis - insufficient enzyme release - fats not properly broken down

Constipation

• infrequent incomplete or difficult passage of stool as a result of primary disorder of motility, side effect of drugs, secondary cause, or symptom of obstructing lesions

• common causes - failure to response to urge, inadequate fiber, inadequate fluids, abdominal weakness, inactivity and bed rest, pregnancy, hemorrhoids

• normal-transit (functional)- perceived difficulty, responds to diet changes

• slow-transit - infrequent bowel movements and caused by alterations in motor function ; Ex: Hirschsprung disease

• defecatory disorders - due to deficiencies in muscle coordination in pelvic floor or anal sphincters

• diseases associated: spinal cord injury, Parkinson, MS, hypothyroidism, obstructive lesions

• other causes - narcotics, anticholinergic agents, Ca channel blockers, diuretics, calcium, iron, aluminum antacids

Fecal Impaction

Retention of hard stool or putty like stool in the rectum or colon that interferes w fecal passage - can cause bowel obstruction

• more often in incapicated older adults

• causes - anorectal disease, tumors, neurogenic disease, constipating antacids, bulk laxatives, low residue diet, drugs

• manifestations - constipation w history of diarrhea, fecal soiling, fecal incontinence, abdominal dissension and blood and mucus in stool, urinary incontinence

• diagnosis/treatment - rectum exam ; mass dislodged w sigmoidoscope; oil enemas; prevention

Bowel Obstruction

Mechanical or functional blockage of intestinal lumen causing pain, N&V, distension, constipation, and obstipation

• causes - extrinsic, intrinsic, or intraluminal

• diagnosis/treatment- CT with oral contrast ; surgery, nasogastric tube (allows for bowel decompression and control of emesis)

• closed loop - obstruction in small or large bowel where there is complete obstruction distally and proximally

• hospitalization w good outcome

Small Bowel Obstruction (SBO)

more common than LBOs and most frequent indication for surgery on small intestines - most caused by extrinsic sources (post surgical adhesions)

Peritonitis

• Inflammation of the peritoneum from bacterial invasion or chemical irritation due to bacteria entering the peritoneum from a defect in the wall of one of the abdominal organs

• leading cause of death after abdominal surgery

• causes - perforated peptic ulcer, ruptured appendix, perforated diverticulum, gangrenous bowel, pelvic inflammatory disease, and gangrenous gallbladder

• environmental causes - abdominal trauma, foreign body ingestion, and infected peritoneal dialysis catheters

• clinical mani - pain, tenderness, shallow breathing, muscle guarding, vomiting, fever, leukocytosis, tachycardia, hypotension, hiccups, paralytic ileus, abdominal distension, toxemia and shock

• treatment - preventing extension, reestablishing fluids/electrolytes through IV, minimizing effects of paralytic ileum and abdominal distention, surgery, nasogastric suction, antibiotics, narcotics

Malabsorption Syndrome

impaired digestion or absorption of nutrients (often in small intestine) resulting in global impairment in absorption of all nutrients

• causes - inherent disease of mucosa, conditions leading to acquired damage of the mucosa, congenital defects in membrane transport systems, impaired absorption of specific nutrients, impaired Gi motility, disrupted bacterial flora, infection, compromised blood flow, compromised lymphatics

• symptoms - diarrhea, steatorrhea, weight loss, developmental delay and deformities (in children), anemia

• treatment dependent on etiology

• prognosis - typically not life threatening - but can be

Celiac Disease

AKA gluten sensitive enteropathy or celiac sprue (one of the most common genetic diseases)

• autoimmune disease of the sm. intestine where body responds to gluten with small intestinal inflammation and damage causing chronic inflammation and villi atrophy - patients are either asymptomatic or have diarrhea

• risk factors - type 1 diabetes, other autoimmune endocrinepathies, dermatitis herpetiformis, first and second degree relatives and turner syndrome

• complications - head and neck squamous cell carcinoma, small intestinal adenocarcinoma, and NHL

• treatment - dietary changes

• diagnosis - clinical manifestations, serologic tests (IgA), intestinal biopsy

• clinical mani - infancy: failure to thrive, diarrhea, muscle wasting, abdominal distension, severe malnutrition; older children: anemia, short stature, dental enamel defects, constipation; adults: GI symptoms, malabsorption

Adenomatous Polyps

Sporadic or secondary protrusions in colon lumen that can be depressed, flat, sessile, or pendunculated and account for origination of 95% of colon adenocarcinomas

• classified as diminutive (<=5mm), small (6-9mm), large (=>1cm)

• risk factors: advancing age, male, high fat/low fiber, tobacco, alcohol, family history, colorectal cancer, intestinal polyposis

• diagnosis - colonoscopy, CBC, fecal occult blood test (FOBT)

• treatment - polypectomy via colonoscopy (diagnostic and therapeutic) or mucosal resection (for sessile polyps)

• clinical mani - usually asymptomatic ; painless rectal bleeding, diarrhea, constipation, abdominal pain, mucus with stools; iron deficiency anemia

Colorectal Cancer (CRC)

second deadliest malignancy in US, most of which are adenocarcinomas, which frequently arise from polyps that acquire dysplastic changes within a 10 to 15 year period before developing carcinoma

• risk factors - environmental factors, family history of CRC, precious abdominal radiation therapy, obesity, red/processed meat, tobacco, alcohol, androgen deprivation therapy, and cholecystectomy

• asymptomatic or present with blood in rectum, abdominal pain, and anemia

• diagnosis - barium enema, CT, colonoscopy

• treatment - surgery and chemo