GI pathology

• Narrowing of distal lumen (pyloric canal in stomach) due to thickening of circular muscle of the wall in the stomach
• Vomiting (non-bilous)
• More common in females than males

• Lack of recanalization; mess-up in rotation, volvulus, gastroschisis, and other factors--the lumen of the duodenum doesn't reopen
• Atresia: In upper duodenum;Blood supply to region is compromised and segment will die resulting in complete loss of region; gut obstructions from this, 25% in duodeunum, 50% in ileum
• Stenosis: in lower duodenum; blood supply in compromised resulting in narrowing of that region

• Formation of bi-lobed ventral pancreatic bud that migrates around duodenum in opposite directions
• Strangulation of duodenum
• Duodenal stenosis or atresia

• Stalk of yolk sac left behind; congenital diverticulum
• Follows the rule of 2 (2% population, 2 in long, 2 ft proximal to ileocecal junction)
• Mucosa similar to adjacent ileum
• Complications include hemorrhage, intestinal obstruction, diverticulitis, and perforation

Mostly in esophagus and ileocecla/ilela regions

complete or partial (abdomen only) reversal of organs

• likely due to autonomic neuropathy
• Impaired gastric emptying (gastroparesis), altered pharyngeal and esophageal contractions

• Lack of fructokinase in liver and kidney
• Benign disorder; symptoms are dependent on amount of fructose and sucrose intake

• Lack of aldolase B in liver, small intestine, and kidney
• Potentially lethal
• Severe hypoglycemia and vomiting following fructose intake
• Fructose in infants-->vomiting, jaundice, hepatomegaly, hemorrhage, and hepatic failure

• Severely impaired hepatic gluconeogenesis
• Episodes of hypoglycemia, apnea, hyperventilation, ketosis, and lactic acidosis
• Lethal in newborns
• Triggered by fasting or infections in adults

• Defect in either galactose-1-phosphate uridyl transferase or galactokinase
• Vomiting and diarrhea following ingestion of milk; impaired liver functioning may lead to cirrhosis; hypergalactosemia; metabolic acidosis; urinary galactitol excretion and hyperaminoaciduria; can cause blindness and fatal liver damage
• Restrict galactose form diet

• Type I: benign; affects only RBCs and WBCs
• Type II: affects multiple tissues and manifests symptoms similar to transferase deficiency
• Restrict galactose from diet

• usually due to loss of lactase (beta galactosidase)
• lactose isn't broken down completely in small intestine and it passes into large where bacteria metabolize it; cramping and flatulence; can also cause water retention in intestine and diarrhea
• Control diet

Young boys; rupture urethra fromo urogenital diaphragm and spill either urine or blood into scarpa's fascia

Gut herniates through inguinal canal; bulge fills scrotum; lateral to inferior epigastric artery

• Usually due to pushing strain
• Directly through the wall (inguinal traingle)
• Bulge does not typically fill scrotum
• Medial to inferior epigastric artery

• lack of enzyme so no pentose-phosphate pathway; reduced NADPH with secondary reductionin glutathione (GSH) which is required for RBC membrane and without it, hemolytic loss occurs and anemia results
• Advantageous when in conjuction with malaria

• GlcNAc phosphotransferase deficiency
• Defect in attachment of phosphate group to make mannose-6-phosphate (usually targets protein to the lysosome for degradation)
• Buildup of proteins causing progressive psychomotor retardation and early death

• Def in branched-chain keto acid dehydrogenase complex
• Vomiting, convulsions and neonatal death; MR in survivors

• Def in crystathionine beta synthase
• MR, severe eye dxs, osteoporosis and frail bone structure

• Def in homogentistic acid oxidase
• Urine darkens upon standing, prone to arthritis

• Tyrosinase in melanocytes is absent
• White hair, pink skin, no significant pigementation

• Defect in intestinal and renal transport and reasorption of neutral AAs (esp tryptophan)
• Ataxia, occular symptoms, emotional, pellegra like symptoms, nicotinamide (niacin) deficiency

• Usually a defect in Phe hydroxylase
• Ability to converte Phe to tyrosine is inhibited
• Light color of skin, eyes, and internal tissues because melanin is made fromo tyrosine
• Diet low in Phe and total protein for first couple years

• fasting or severe dieting; can also occur when DM is not well-controlled
• High levels of ketone bodies in blood is ketonemia (in urine, it's ketonuria)
• Can be fatal in diabetics

Demyelinating disease (loss of phospholipids and sphingolipids from white matter); lipid composition of white resembles thaty of gray; CSF shows high phospholipid levels

• Genetic defect in catabolism of lipids containing sphingosine; defects in lysosomal degradation pathway of sphingolipids
• Complex lipids containing ceramide accumulate in cells (esp neurons) causing neurodegeneration; rate of synthesis of stored lipids is normal though
• Some success with enzyme replacement and bone marrow transplantation

• Type of Sphingolipidoses
• Deficit in hexosaminidase A
• Cermide lipid accumulates
• Normal development, then nerve cells fill with fat; deterioration; blindness; uanble to swallow due to muscle atrophy; msot die within 5 years

Can result in pancreatitis; presents with abdominal pain; rare

95% occur in posterior wall of the first portion; remember that the pancreas is back there as well

• Most commonly caused by stroke; seen in Parkinson's, MS, myasthenia gravis, and end-stage dementia
• inability of difficulty swallowing; difficulty moving food from front of mouth to posterior oropharynx to esophagus

• Disordered peristaltic motility of the esophagus; msot commonly caused by achlasia or scleroderma
• Inability or difficulty swallowing; pt complains of food getting stuck

• Most commonly caused by strictures, schatzki's ring, or external compression on the esophagus by tumor or vasculature
• Inability or difficulty swallowing; pt complains of food getting stuck; phsyical obstruction to movement of bolus through esophagus
• Remove object causing obstruction

• Commonly caused by relfux
• Scar tissue forms bands
• Dilators are often used to dilate the esophagus and break the rings; may need repeat tretaments due to regrowth

• Chronic dx characterized by diffuse fibrosis of the skin and internal organs (esp esophagus)
• 4 times more common in women than men; in 3 to 6th decade

• Common in diabetics, hypothyroidism, post-operative, parkinson's, and various infections
• Chronic
• Intermittent n/v, early satiety, bloating and upper abdominal discomfort, gastric reteention of 60% after 2+ hours or 10% after 4 hours; may be caused by autonomic neuropathy
• Pharmacotherapy; avoid opiates; eat small frequent meals; avoid gas

• abnormal motor function
• Disorder of bowel motilityl may have constipation-predominant or diarrhea-predominant
• 2/3 women
• Diagnosis of exclusion
• Avoid dietary triggers; take anti-diarrheal, anti-constipation, serotonin receptor agonists (increase motility) and antagonists (to decrease motility); depending on what type you have

• Persistent, difficult, infrequent, seemingly incomplete defecation
• Wide variability of normal bowel habits makes it difficult to define (<3 bm/week)
• Eat a fiber-rich dieat, adequate fluid intake, appropriate bowel habits and training, avoid constipating drugs, increase activity, bulk-forming agents, laxatives, and stool softeners

Opiate receptors in the bowel significantly slow down motility when activated by reducing response to excitatory NTs causing constipation

• Commonly caused by surgery, infection, inflammation, or meds
• Signs and symptoms of intestinal bowel obstruction with no mechanical cause; air-filled bowel
• Most common type is paralytic ileus
• Give it time/IV fluid/electrolyte replacement; gastric decompression (remove air); may require surgery

• Congenital abnormality of the small bowel caused by incomplete migration of neural crest cells resulting in loss of innervation
• Colon from internal anal sphincter in a proximal direction (of variable length) remains permanently contracted; gut segment proximal to this dilates
• 1/5000 live births
• Surgical correction to remove piece of bowel

• Cuased by norwalk or rotavirus
• Acute diarrhea
• Norwalk is mainly in the winter (24-48 hrs)
• Rotavirus is mainly in infants and childhood; severe if it penetrates the epithelium

• Due to ingestion (osmotic laxatives), maldigestion (pancreatic and lactase def), and malabsorption (carb. malabsorption and congenital chloridorrhea)
• Watery diarrhea, high osmolal gap (>50); if fecal pH<6, due to carb malabsorption; if increased fecal mG, due to laxative abuse

• Caused by bacterial enterotoxins (e.coli and cholerae) and secretagogues (bile acids, FAs, ethanol, carcinoid syndrome, gastrinoma, and calcitonin)
• Watery diarrhea; when they stop eatch, diarrhea continues

• Due to change in transit time
• Slow: fistulas, strictures, and diabetic neuropathy
• Rapid: intestinal resection, IBS, hyperthyroidism, and post-vagotomy

• def in Vitamin C
• Rare in US; smoking is risk factor
• Poor collagen synthesis and wound healing; skeletal changes due to insufficient osteoid matrix

• Common, but pts rarely seek medical attention
• Ocular symptoms, frontal headaches, cheliosis, palor at angles of mouth, cracks/fissures, glossitis

• either due to inadequate intake of protein (somatic or visceral) or calories to meet the body's needs
• Common in underdeveloped countries; can be fatal; in developed countries, seen with poverty, alcoholism, ignorance, acute or chronic illness, and voluntary diet restriction

• def of total food intake (somatic protein compartment)
• Spindly legs and arms, stunted growth, anemia, infections and defects in immunity, multi-vitamin def, serum albumin normal to slightly reduced

• Def of protein intake (visceral protein compartment)
• Babies who are weaned early and fed exclusively carb diet; also caused by chronic diarrhea, protein losing enteropathies, and nephrotic syndrome
• Apathy, listlessness, loss of appetite, enlargened fatty liver, hypoalbuminemia, altering zones of hyperpigmentation, stunted growth, anemia, infections and defects in immunity, multi-vitamin deficiencies

• marasmus-like PEM seen in AIDS, cancer, and end-stage lung diseases
• Depletion of subcutaneous fat, muscle wasting, and ankle edema

usualyl seen with severe trauma, burns, and sepsis

self-induced starvation, amenorrhea, decreased thyroid hormone release and boen density, anemia, lymphopenia, hypoalbuminemia, cold intolerance, bradycardia, constipation, scaly skin, prone to hypokalemia (increases risk of sudden death)

Binge eating followed by induced vomiting, menstrual irregularities, complications of chronic vomiting, pulmonary aspiration of gastric contents, esophageal and cardiac rupture allowing bacteria into mediastinum, also prone to hypokalemia and sudden death

• Excess vit A precursors
• Yellow-orange skin with white sclera (difference from jaundice)

• vit D deficiency
• predisposed to fractures, bowed legs, can be mistaken for abuse

• thiamine deficiency
• Dry (toe drop, common in alcoholics, pernicious vomiting during pregnancy, diseases that imapir appetite or cause diarrhea; can cause heart failure due to edema and hemorrhage into mammillary body)
• Wet (CV problems)

thiamine deficiency causing brain problems (encephalopathy)

• Niacin deficiency (B3)
• Dermatitis, diarrhea, dementia--classic picture of hands

• smoking and alcohol; poor prognosisl common in males and AAs; geographic distribution (Asia, Africa, S. America)
• Pt complains of difficulty swallowing, heartburn, wgt loss

• smoking and alcohol; poor prognosis; geographic variation (Asia, Africa, S. America)
• GERD-->Barrett's esopagus (10-20 times more likely)--occurs in lower esophagus
• Results from metaplasia
• Pt complains of difficults swallowing, heartburn, and wgt loss

• Intestinal metaplasia of the esophagus
• Normal linining is squamous; chronic exposure to gastric reflux leads to metaplasia and columnar epithelium; incidence is on the rise

• H. pylori, AI gastritis, metaplasia, food, familial factors, gastric adenoma (benign tumor); more frequent in Asia, E. Europe, Africa, and S. America; decreasing incidence
• Poor prognosis (early detection helps-Japan)
• Aysmptomatic until too late, wgt loss, anorexia, abdominal pain, and Krukenburg tumor (of the ovaries--metastasis)
• Most are adenocarcinoma (diffuse signet ring type)

Benign tumor; premalignant; adjacent gasric mucosa may develop cancer in 30% of cases

• sub-type of IBD
• Skip lesions, 80% in small intestion (ileocecal junction), Ash-Jewish, Asian, and AA population; bimodal dist
• Triad of symptoms: diarrhea, ab pain, 10+% wgt loss

• bacterial, parasitic, viral
• Present with inflammation and diarrhea
• Fluids, electrolytes, and nutrition for treatment

• non-neoplastic polyp in colon
• Pretty-star shaped growths

• non-neoplastic polyp of the colon
• Looks like a stalk of broccoli

• Most common polyp (40% of these become malignant)
• Usually small and predunculated; may be raised (look like broccoli)

• Les common, and 10 times less likely to become malignant than tubular adenoma
• larger and sessile with a broader base; may be combined as tubulovillous

• stepwise accumulation of genetic mutations
• Polyps start benign and then become malignant
• Attentuated: fewer polyps in right colon (secum)
• Garnder syndrome (FAP + osteomas, fibromas, epidermal cysts)
• Turcot syndrome: FAP + brain tumors

• Second in incidence to lung cancer in men and third to breast in women
• Rarely causes obstruction in right colon, does in left; with right colon, pt presents with microscopic bleeding, anemia (due to depletion in iron due to continuous bleeding); in left colon, pt presents with pencil like feces and constipation
• Adenocarcinoma is most common in both
• Can be asymptomatic for years; colon more common in women and rectal more common in men
• Metastasis to local LNs, liver, lung (triple L)
• CEA (carcinoembryonic antigen) is a marker for tumor after surgery, not for primary detection

NE tumor of the GI tract and resp tract; most common in small intestine; size matters; secrete polypeptide hormones and biogenic amines (5-HT); present with 5-hydroxyindoleacetic acid in urine

• Express mutated c-KIT and PDGFRA
• tumor of the GI system composed of stromal cells; benign or malignant; may occur anywhere from stomach to intestines (histologically, it looks like collagen/stroma w/lymphocyte infiltrates)
• Inhibitors of TK block growth

• H pylori is a risk factor
• Secondary spreading to the GI from lymph nodes, primaryily originates in the GI tract
• GI is most common site of extranodal lymphoma
• Stomach is most common site of GI lymphomas
• Most are MALTomas (respond well to H pylori therapy)

• alcohol abuse and gall stones (50%)--caused by anything that obstructs the duct, causes acinar cell injury, defective intracellular transport
• activation of lipolytic enzymes produces fat necrosis; activation of proteolytic enzymes activates chemotactic factors (inflam and leukocytosis) leading to fever; microvasc leakage leads to edema; endothelial injury leads to thrombosis and hemorrhage
• Epigastric pain of sudden onset, n/v, low-grade fever, dehydration, tender abdomen, xray shows sentinel loop, US shows gallstones and swelling; elevated amylase and lipase; decreased Ca; get ERCP

• Complication of acute pancreatitis
• Cyst with necrotic surface and no epithelium

• more common in men; alcohol abuse causes toxic effects directly to acinar cells and can cause spasms of sphincter of Oddi; caused by repeated bouts of acute pancreatitis and ductal obstructions
• Present with ab pain, calcifications and pseudocysts; pancreatic insufficiencies resulting in malabsorption, diabetes (destruction of islets of Langerhans)
• Ductal dilation on US; ERCP shows beading
• Treat with low fat diet, no alcohol, enzyme supplementation, pain management, surgery to restore bile flow

• gastroesophageal junction protrudes through the esophageal hiatus with or without the stomach
• Mimics the substernal pain of an MI but sitting up from supine position lessens the pain here

Caused by portal hypertension; small veins in esophagus become dilated; varices/dilation can rupture under stress leading to profuse hemorrhage

• Absence of intinsic neurons in lower esophagus (cause or effect?)
• Dysmotility in lower esophagus causes upper esophagus hypertrophy and dilation; patients have recurrnet vomiting leading to malnutrition

"heartburn" in abdominal part of esophagus

• inflammation of the gall bladder; can spread to first part of duodenum with consequent adhesions to or perforating ulcerations of the duodenum
• Positive murphy's sign

• most common tumor of the pancreas; elderly; male predominance in younger, but equal in older; high in US
• Mulitple hits; starts in situ (most in the head); highly invasive and elicits a strong desmoplastic reaction; malignant epithelial cells may secrete/contain mucin
• Asyptomatic until perineural invasion and pain; painless jaundice, ab pain, wgt loss, anorexia, migratory thrombophlebitis (Troussea sign), anemia, hyperglycemia
• Surgical resection (Whipple procedure) is rarely curative; pallitative measures

• pre-hepatic disease (partial occlusion in portal vein, i.e. hemolytic jaundice); intra-hepatic (cirrhosis, malignant metastases, and hemolytic jaundice); or post-hepatice disease (compression of IVC or obstructive jaundice)
• Resistance to blood flow through liver
• Hemorrhages, hemorrhoids, and caput medusae

Viral or bacterial liver infection; leads to erosion through dense liver capsule into abdominal cavity or across diaphragm; results in pleuritis or empyema

blockage in duct; RUQ pain due to distension between waves of contraction in duct

• made from bilirubin metabolites, cholesterol, or calcium slats
• Can obstruct gall bladder causing bile retention and rupture resulting in peritonitis; can obstruct common bile duct or hepatopancreatic duct (bile is diverted into pancreatic duct); or when gallstones pass through sphincters, make them less competenct to assist in regulating flow of bile and pancreatic enzymes

Twisting of intestines around mesentery; leads to compression and strangulation of blood vessels within mesentery; ischemia and necrosis; most prevalent in large bowel (cecum and sigmoid)

• inflammation of the liver or short duration
• Cell injury includes apoptosis and necrosis
• Jaundice, fatigue, nausea, loss of appetite, increased ALT/AST and bilirubin (C+UC)
• if severe, decreased albumin, increased PT time, increased ammonia=urgent transplant

• VIRAL mneumonic (viral, immunologi, Rx, alcoholic/NASH, library list of genetic diseases)
• inflammation of the liver for longer than 6 months
• Increased or decreased AST, ALT, bilirubin, albumin, and PT
• Biopsy must be performed
• Can progress to cirrhosis

• Viral hep C, alcohol abuse, steatohepatitis (diabetes, obesity, idiopathic), immune (AI, primary biliary cirrhosis, primary sclerosing cholagnitis), genetic (hemochromatosis, Wilson);15% are cryptogenic
• Chronic liver disease with loss of normal architecture, widespread fibrosis, ndoular transformation of parenchyma, portal hypertension, bleeding tendency, hepatic encephalopathy
• Decreased synthetics; can lead to liver cell carcinoma

• hypoalbuminemia, sinusoidal HTN, percolation o fhepatic lymph (blocked), and splenic congestion all cause
• >500 mL is detectable
• If RBCs, think tumor

• Shunting of blood by liver results in inadequate detoxification of potentially toxic metabolits by liver
• Confusion, stupor, coma, increased blood ammonia (>50)

• renal failure caused by liver failure
• Oligouria, increased BUN and creatinine, concentrated urine, pt unresponsive to diuretic therapy; jaundice, ascites, urinary failure, neurologic, dyspnea, infections, coagulopathy, endocrine

• asymptomatic until 40-50; iron is stored preferentially in liver; involves liver, skin, heart, endocrine, and joints
• Present with liver disease (cirrhosis), increased iron saturation, increased risk of liver cancer
• Grossly and histologically, can see accumulations of iron
• Lung problems due to elastase

• Protein is not allowed to move to from ER to GA for secretion, so A1-AT accumulates in hepatocytes; abnormally low serum levels of it; present with liver disease
• Jaundice and symptoms of cholestasis, increased transaminase, hepatocellular carcinoma; lung disease and vasculitis

• lack of descent of the cecum from RUQ to LUQ
• Can be asymptomatic, but increased risk for obstructive event

• fecal blockage of the appendix's lumen leading to vascular congestion, ischemia, bacterial growth, infection, perforation of wall with pus released into abdominopelvic cavity
• Initial pain is dull in umbilical region (referred via lesser thoracic splanchnic to T10) but becomes sharp and localized due to direct irritation of escaping pus to parietal peritoneum of the wall

dvlpt of small blind pouch in colonic wall that become inflammed and can rupture; frequent in older population; no popcorn or nuts as these can cause rupture

• Chronic inflammation and destruction of mucosal lining that manifests as chronic diarrhea and abdominal pain
• No skip lesions

Inflammation of lymph vessels

inflammation of lymph nodes

• 15-20% caused by impaired basal tone of LES; rest due to transient LES relaxation
• Chronic symptoms (ie heartburn with or without mucosal damage produced by abnormal reflux of gastric content in esophagus); increased risk of developing esophageal adenocarcinoma

due to close interaction with overlying fascia, might impinge on nerve roots causing pain when psoas is contracted; relieve when lifting supine patient legs toward their abdomen

• compression (ie belt too tight) and endocrine (alcoholism and diabetes) causes
• Mononeuropathy; present with pain, numbness, tingling, burning and itching in anterolateral thigh