Gastrointestinal System Flashcards
Auto immune hepatitis
- Female > male
- Associated other autoimmune disorders
- Hepatocellular injury (↑ transaminases)
- Anti–smooth muscle & Antinuclear Antibodies
- Histology: Interface hepatitis (portal & periportal lymphoplasmacytic infiltrate)
Acute Cholecystitis
Inflammation of Gallbladder
Presents with:
- Fever
- RUQ Pain
- Leukocytosis
Usually due to Gallstones
Primary biliary cholangitis
- Female»_space; male
- Associated other autoimmune disorders
- ↑ alkaline phosphatase , ↑ Bilirubin
- Autoimmune destruction of intralobular bile ducts.
- Complication includes Cirhosis & Liver failure
- Malnutrition:
Bile aids in absorbtion of Fat-Sol vitamins thus patient can have Deficiency of Fat sol vitamins( A,D, E &K). - Antimitochondrial & Antinuclear Antibodies
- Histology: Florid duct lesion (granulomatous destruction of small bile ducts)
Primary sclerosing cholangitis
- Male > female
- Associated with IBD (particularly UC)
- ↑ alkaline phosphatase
- ± p-ANCA*
- Histology: Fibrous obliteration of bile ducts with concentric periductal deposition of connective tissue (onion skin–like pattern )
Reye Syndrome
- Acute liver failure
- Hepatomegaly
- Elevated transaminases; coagulopathy
- Rapidly progressive encephalopathy
- Vomiting, lethargy, seizures, coma following salicylate (aspirin) administration in children.
- Aspirin-induced mitochondrial dysfunction causes impaired fatty acid metabolism and microvesicular steatosis of the liver
Carcinoid syndrome
- Diarrhea, Flushing, Wheezing
- Carcinoid Heart Disease (Right sided endcardial fibrosis and thickening of heart valves secondary to exposure to serotonin)
- Vitamin B3 deficiency (Pellagra > Diarhea, Dermatitis, Dementia), Vit-B3 def is because Tryptophan which is also a precursor for Vit-B3 gets shunted more towards production of serotonin therefore Vit-B3 level decrease.
- Elevated 24-hr urinary excretion of 5-HIAA.
- Octreotide for symptomatic patients.
Familial adenomatous polyposis
APC gene mutation
Colorectal cancer
Desmoids & osteomas
Brain tumors
AAA
abdominal aortic aneurysm
risk factors
Age>65yrs, Male, Smoking
Kawasaki disease
Spiking Fever for 5 days or more.
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue (Strawberry tounge), hand-foot changes
(mucocutaneous lymph node syndrome,
treat with IVIG and aspirin)
Sjögren syndrome
(autoimmune destruction of exocrine glands)
- Dry eyes
- Dry mouth
- Arthritis
Plummer-Vinson syndrome
- Dysphagia (esophageal webs)
- Glossitis
- Iron deficiency anemia
(may progress to esophageal squamous cell carcinoma)
Zollinger-Elison Syndrome
(ZES)
Traid of:
- Pancreatic/Duodenal tumor (Gastrinoma)
- Increase Gastric secretion (Non responsive to antiacids)
- Peptic Ulcer (Distal Duodenal Ulcer)
Other symptoms:
- Diarrhea
- Abdominal pain
- Malabsorbtion
- Post-prandial pain
- Gastrin increases in response to exogenus Secretin (normally secretin inhibits gastrin production in ZES effect is opposite)
Zenkers Diverticulum
- False Diverticulum
- Develops immideately above UES
- Posterior mucosal herniation between fibers of Circophyrngeus muscle
- Pathophysiology : (diminished relaxtion of circopharengeal muscle during swallowing leads to incr intraluminal pressure eventually causing mucosa to herniate through a zone of muscle weakness in posterior hypopharynx)
Presents as:
- Dysphagia
- Regurgitation/ Halitosis
- Aspiration
Meckels Diverticulum
- True diverticulum
- All 3 layers: mucosa, submucosa, muscularis
- Outpouching from ileum w fibrous band connected to umbilicus
- Congenital anamoly due to incomplete obliteration of Vitelline (omphalomesenteric) duct
Classically present with:
- Painless hematochezia +/–
- Iron def anemia.
- Abdominal pain if inflamed (i.e Diverticulitis)
- Often contain Heterotrophic gastric mucosa secreting HCl and causing local ulceration & bleeding of small bowel.
- Rule of 2: Present by age 2, <2 inches long, Located with 2 feet of Ileocecal valve
- Complications: Intussuception, Volvulus, Bowel Perforation
Scleroderma/ Systemic Sclerosis
It can be localized called as localized scleroderma or diffuse/systemic scleroderma called as systemic sclerosis.
AKA “ C R E S T syndrome ”
C = Calcinosis (Ca+2 deposit in skin)
R = Raynauds Phenomenon
E = Esophageal dysfunction(acid reflux,↓motility)
S = Sclarodactyly (thickening & tightening of
skin on fingers & hands)
T = Telangectasias
– Anti-Centromere Antibodies are classic for CREST syndrome.
– Anti-Topoisomerase (Anti-Scl-70) are seen in diffuse systemic sclerosis.
Pulmonary fibrosis can be caused secondary to CREST syndrome, both limited and diffuse systemic sclerosis can lead to pulmonary fibrosis.
Peutz-Jeghers
Combo of Perioral Melanosis and Hamartomatous colonic polyps
Start colonoscopy at age 5 then do it every 1-2yrs
Duodenal Atresia
- Bilious vomitting in Neonate.
- Obstruction at level of duodenum or lower.
- Assossiated with Down syndrome
- Double Bubble sign on X-ray.
Pyloric Stenosis
- Forceful/ Projectile Non-bilious vomitting in neonates.
- Obstruction is above the level of duodenum.
- Hypertrophic pylorous “ Olive shaped mass “ in abdomen.
- Ultrasound for diagnosis.
Celiac disease
- Intolerence to Gluten ( i.e gliadin protiens found in wheats, oats, rye and barley, but not in rice )
- Causes Type-IV hypersenstivity response where T-cells attack the small intestinal villi, resulting in flattening of villi and malabsorbtion.
- Anti-Endomysial ( AKA Anti-Gliadin ) antibody
Anti-Tissue Transglutaminase IgA - Patients with IgA deficiency have greater chance of developing celiac disease
- Celiac disease present as vague bloating and diarrhea but can also cause Iron Def Anemia as iron absorbtion is impaired by flattening of villi.
- Celiac disease has low Hb ( HY differential )
- D-xylose test is abnormal as intestinal lining architecture is abnormal.
- Assossiated with dermatitis herpitiformis and also cause increased risk of gastrointestinal T-cell Lymphoma ( Enteropathy- Assosiated T-cell Lymphoma EATL )
Whipple Disease
- Caused by bacterium Troponema Whipplei.
- Causes PAS positive macrophages in lamina propria of small bowel.
- Can cause Arthritis and Diarrhea.
- Tx: Antibiotics ( Doxycycline )
Spontaneous Bacterial Peritonitis (SBP)
- Cirrhosis + Fluid wave + Fever + Abdominal pain
- Diabetic + undergoing peritoneal dialysis + Fever + Abdominal pain
- TX: Ceftriaxone.
Charcots Triad
Jaundice , Fever (Rigors) , RUQ pain
For Ascending Colangitis
Reynolds Pentad
Charcots Triad ( Jaundice , Fever (Rigors) , RUQ pain ) with Hypotension and Altered mental status.
For Ascending Cholangitis
Criggler Najjar Type-I
- Unconjugated bilirubin buildup;
- In newborn or infants;
- No UDP-GT;
- Phenobarbital yields no change
Congenital diaphragmatic
hernia
- Caused by failure of formation of pleuroperitoneal membranes.
- Always occurs on the left, where bowel from the abdomen can herniate up into the left-chest.
- Can present as ↓ bowel sounds in the abdomen + ↑ bowel sounds in the left hemithorax.
Somatostatinoma
Delta-cell tumor»_space; Somatostatin.
- Global GI inhibition.
- Steatorhea.
- Gallstones.
- Mild diabetes.
Tx: Oral hypoglycemics
MEN Syndromes
(Multiple Endocrine Neoplasia)
Autosomal dominant syndromes
– MEN 1 : Menin gene
“ P P P “
Pituitary adenoma ,
Parathyroid adenoma ,
Pancreatic adenoma.
– MEN 2A : Marfanoid habitus
“ P M P “
Parathyroid adenoma,
Medullary thyroid carcinoma,
Pheochromocytoma.
– MEN 2B : Marfanoid habitus
“ P M N “
Pheochromocytoma,
Medullary thyroid carcinoma,
Neuromas (mucosal).
Both MEN 2A and 2B have RET gene mutation
Neuroblastoma
- Young child with large abdominal mass.
- Urine shows elevated catecholamine metabolites.
- Biopsy shows small, round, blue tumor cells.
- This tumor is of neural crest cell origin.
A middle-aged woman with joint pain, dry eyes, and dry mouth has extensive lymphoid infiltrate with germinal centers on excision of a salivary gland. What is the diagnosis?
Sjogren syndrome.
Positive anti-Ro (SSA) &/or anti-La (SSB)
CREST Syndrome
- Calcinosis: calcium deposits in the skin
- Raynaud phenomenon: blood vessel spasms in response to cold or stress
- Esophageal dysfunction: acid reflux +/- decrease esophageal motility
- Sclerodactyly: thickening of skin over hands and fingers
- Telangiectasia: dilation of capillaries on surface of skin
Reye Syndrome
- Acute liver failure
- Hepatomegaly
- Elevated transaminases; coagulopathy
- Rapidly progressive encephalopathy
- Vomiting, lethargy, seizures, coma following salicylate (aspirin) administration in children.
- Aspirin-induced mitochondrial dysfunction causes impaired fatty acid metabolism and microvesicular steatosis of the liver
Familial adenomatous polyposis
APC gene mutation
Colorectal cancer
Desmoids & osteomas
Brain tumors
Lynch syndrome
- Autosomal dominant
- Inherited DNA mismatch repair defect
- MSH2, MLH1, MSH6, PMS2 genes
- Colorectal cancer
- Endometrial cancer
- Ovarian cancer
- Patient with postive family history are at risk should start colonscopy by age 5
Wilsons Disease
- AR, Chromosome 13
- Defective Copper transport protien ATP7B.
- Impaired biliary excretion of Copper accumulation of Cu in hepatocytes cause oxidative stress and apoptosis (Cirrhosis).
- Extra hepatic Cu accumulation in basal ganglia (Encephalopathy), Cornea (Kayser-Fischer Ring).
Classical Symptoms Traid:
1-Hepatic (Cirhosis, Liver failure)
2-Neurological (Confusion, Disorientation)
3-Psycological (Depression)
- Parkinsonism in young patient is Wilson disease.
- Putamen in brain is damaged in wilson disease.
- Tx: Penicillamine ( Copper chelator )
Alcoholic Hepatitis
- Heavy ethanol consumption → intrahepatic oxidative damage → recruitment of neutrophils to the liver
- Presents with: Fever, Right upper quadrant pain, Jaundice
- Aminotransferase elevations with AST/ALT ratio >2:1
- Direct hyperbilirubinemia
- PT & PTT elevations (impaired hepatic production of coagulation factors)
Heavy ethanol consumption causes oxidative damage in the liver, which triggers the release of neutrophil chemotactic factors (eg, IL-8, leukotriene B4), leading to marked intrahepatic neutrophil infiltration.
Acute Pancreatitis
- Abdominal Pain radiating to the back
- Nausea & Vomiting
- ↑ serum Amylase/ Lipase (3x Normal)
- Lipase is more specific
Causes: Mnemonic “I GET SMASHED”
I: Idiopathic , G: Gallstones , E: Ethanol (alcohol) , T: Trauma ,
S: Steroids , M: Mumps and other infections, or malignancy
A: Autoimmune , H: Hyperlipidemia, hypercalcemia, or hyperparathyroidism , D: Drugs
