GI Flashcards
Bristol stool char describe
1-separate hard lumps hard to pass 2-sausage with lumps 3-sausage with cracks 4-soft snake 5-soft blobs 6-fluffy blobs 7-entirely liquid
Most common causes of constipation
Inadequate fiber
Poor bowel habits
Fecal impaction
Impaction in rectal vault leading to bowel obstruction
- opoids, psych, bed rest, neurogenic disorders of colon,
- nauseas vomiting, decreased appetite, overflow incontinence (paradoxical diarrhea)
- stercoral ulcer
- do digital rectal
Treat fecal impaction
Saline, mineral oil,
Digital disruption
Long term try to have soft stools and regular bowel movements
Chronic use of laxatives
Melanesia coli
Acute vs chronic diarrhea timing
Less than 2 weeks greater than 4
Common causes chronic diarrhea
Medications, IBS, lactaste deficiency
Chronic diarrhea
What does poop look like for malabsorptive
Inflammatory
Secretory
Greasy/malodorous
Plus blood
Watery
What if have chronic diarrhea with abdominal pain
IBS IBD
What are signs that warrant further examination with chronic diarrhea
Nocturnal diarrhea, weight loss, anemia, positive results on fecal occult blood test
Routine lab test for chronic diarrhea
CBC, serum electrolytes, liver function test, calcium, phosphorus, albumin, thyroid stimulating hormone, vitamin a and d levels, INR, erythrocyte sedimentation rate, and c reactive protein
Serologic test for celiac disease
IgA tissue transglutiminase
Who with chronic diarrhea has anemia
Malabsorption (folate, iron defiency, b12)
Inflammatory convictions
Who with chronic diarrhea has hypoalbuminemia
Malabsorption, protein losing enteropathy ex’s and inflammatory diseases
Hyponatremia and non anion gap metabolic acidosis
Secretory diarrhea
Increased erythrocyte sedimentation rate or c reactive protein
Suggests inflammatory bowel disease
Osmotic gap over 50
Osmotic and malabsorptive diarrhea
Sudan test
Stinking for fat
Leukocytes, calprotectin and lactoferrin in poo
IBD
Wet mounts
Giardia and e histolytica
Fecal antigen for
Giardia and e histolytica are more sensitive and specific
Acid strain
Cryptosporidium and cyclospora
Colonoscopy with mucosal biopsy is done to exclude what
IBD
Microscopic colitis
Colonic neoplasia
Upper endoscopy is preformed when
A small intestinal malabsorptive disorder is suspected (celiac or whipple)
AIDS to document cryptosporidium, microspordia, and M avium
What do is all poop studies/ endoscopy.colonoscopy inconclusive
24 hour stool collection for weight and fat
Fecal elastase less than 100mcg/g may be caused by pancreatic insuffiency
Calcification on plain abdominal radiograph
Chronic pancreatitis
SI intestinal imaging with barium, CT or MRI for diagnosis of what
Crohns, small bowel lymphoma, carcinoid, jejunum diverticula
How localize neuroendocrine tumors
Somatostatin receptor scinitgraphy
When consider secretory diarrhea due to neuroendocrine tumors
Chronic, high volume watery diarrhea with a normal osmotic gap that persists during fasting
Serum chromogranin A
Variety of neuroendocrine tumors
VIP
VIPoma
Calcitonin
Medullary thyroid carcinoma
Gastrin
Ze syndrome
Urinary 5-hydroxyindoleacetic acid 5-HIAA
Carcinoid
How conform small bowel bacterial overgrowth
Breath test for glucose or lactulose
Or get aspirate of SI for quantitative aerobic and anaerobic bacterial culture
How confirm carbohydrate malabsorption
Elimination trial 2-3 weeks
Hydrogen breath tests
Lactase drfiency0hydrogen breath test
Medications that cause diarrhea
Cholinesterase inhibitors, SSRI, angiotensin II receptor blockers, proton pump inhibitors, NSAIDS
Discontinue culprits
Two types of microscopic colitis
Lymphocytic and collagenous
Histology microscopic colitis
Chronic inflammation -lymphocytes and plasma cells
Who gets microscopic colitis
Women 5-6 decade
Collagenous colitis
Thickened band of subepithelial collagen
Meds implicated in microscopic colitis
NSAIDS
Treat microscopic colitis
Antidiarrheal therapy loperaminde
Osmotic diarrheas
Osmotic gap over 50
Indigestion or malabsorption of an osmotically active substance
Mainly carb malabsorption, laxative abuse, malabsorption
Factitious
Osmotic or secretory
Causes of osmotic diarrhea
Meds Disaccharides defiency Factitious diarrhea (magnesium laxative abuse)
Osmotic diarrhea resolved with fasting
Yup
What ask someone with osmotic diarrhea
Carbs, lactose, fruits and artificial sweeteners (fructose sorbitol) and alcohol
Ingestion of magnesium
Osmotic (laxative and antacids)
Fat substitute olestra
Causes diarrhea and cramps
Secretory diarrhea
High volume with normal osmotic gap
May get dehydration and electrolyte imbalance
Not fixed with fasting
Causes secretory diarrhea
Endocrine tumors (stimulating intestinal or pancreatic secretion, Ze, carcinoid, bile salt malabsorption (stimulating colonic secretion)
Causes of secretory diarrhea
Hormone (VIPOMA, carcinoid, medullary carcinoma of thyroid, Ze)
Factitious diarrhea (laxative abuse)
Villous adenoma
Bile salt malabsorption
Meds
Inflammatory diarrhea
IBD (UC, CD), microscopic colitis, malignancy, radiation enteritis)
Malabsorption diarrhea
Pancreatic insuffiency, small mucosal intestinal diseases, intestinal rejections, lymphatic obstruction, small intestinal bacterial overgrowth
-bile salt malabsorption, celiac, whipple, lactase defiency
Small bowel bacterial overgrowth-glucose or lactlose breath test)
Characteristics malabsorptive
Weight loss, osmotic diarrhea, steatorrhea, nutritional defiency
Pancreatic insuffiency malabsorptive
Chronic pancreatitis, CF< pancreatic cancer
Steatorrhea due to TG malabsorption
Weight loss, gaseous distention and flatulence large great foul smelling stools
Protein and carb not affected and nutrient defiencies rare
Causes of malabsorption syndromes
Small bowel disorders (sprue)
Lymphatic obstruction
Pancreatic disease
Bacterial overgrowth
Bile salt malabsorption cause
Biliary obstruction or cholesatic liver diseases
Terminal lien (cd, bacterial overgrowth, hypersecretion, meds bind bile salts)
Signs bile salt malabsorption
ADEK impaired
Watery secretory diarrhea
Microcytic anemia and microcytic anemia
Micro-iron
Macro-b12, folic acid
Celiac disease
Destruction of mucosal enterocytes as a humoral immmune response that results in antibodies to gluten, tTG, and other autoantigens
Symptoms celiac disease
Weight loss, chronic diarrhea, dyspepsia, flatulence, abdominal distention, growth retardation (infants)
Older kids less likely to manifest signs of serious malabsorption
Atypical symptoms celiac
Dermatitis, herpetiformis, iron defiency anemia, osteoporosis
Extraintestinal celiac
Fatigue, depression, iron defiency anemia, osteoporosis , short, delayed puberty, amenorrhea, reduced fertility
Celiac dermatitis herpetiformis
Cutaneous celiac disease
Skin rash with pruritis papulovesicles over the extensor surfaces of the extremities and over the trunk, scalp and neck
Treat celiac
Gluten free
Who gets celiac
Whites 1/100 most undiagnosed
Genetics celiac
HLA DQ2
Mainly
DQ8
Lab celiac
Microcytic anemia (CBC, iron defiency due to occult blood)
Megaloblastic anemia
(B12, folate)
Impaired calcium or vitamin d absorption with ostomalacia or osteoporosis(ALP up normal GGT)
Impaired fat soluble vitamin absorption (elevated prothrombin time, vitamin a or d down)
Small intestine protein loss or poor nutrition (albumin loss CMP)
Antibodies in celiac
IfA tissue transglutiminase IgA tTG antibody
IgG to deamindated gladin) anti-DGP)-low sensitivity though
IgA anti endomysial antibodies-not recommended lack of standardization
Velez of all antibodies become undetectable after _ months of dietary gluten withdrawal
3-12
Check antibodies on gluten free diet
No
Mucosal biopsy celiac
Condirm diagnosis
Atrophy or scalloping of the duodenal folds
Intraepithelial lymphocytosis alone->extensive infiltration of the LP with lymphocytes and plasma cells with hypertrophy of the intestinal crypts and blunting or complete loss of intestinal villi
What happens if have normal mucosal biopsy with celiac
Excludes diagnosis
Why dal energy x ray densitometry for all patients with sprue
Screen for osteoporosis
Most patients with celiac disease also have __ __
Lactose intolerance
Celiac disease association
Other autoimmune diseases
What supplements give celiac
Folate, iron zinc, calcium A B D E
Symptoms of whipple disease
Fever, LAD< arthralgias, weight loss, malabsorption, chronic diarrhea, arthralgias, diarrhea, abdominal pain and weight loss
Diagnose whipple
Duodenal biopsy PAS positive macrophages with characteristic bacillus, dilation of lacteals
Cause whipple
Gram positive bacillus tropheryma whipplei
Who gets whipple disease
White men in 4- decade
Whipple protein
Protein lowing enteropathy EDEMA
Physical exam whipple
Hypotension, low fever, malabsorption, LAD< heart murmurs , steatorrhea
What does whipple bacillus look like
Trilamellar wall
Treat whipple
Antibiotic
Ceftriaxone, meropenem, TMP SMX
Then duodenal biopsies every 6 months for at least a year and CSF PCR
Prognosis whipple
Fatal if untreated
Prevent progression and neurological signs
Symptoms of bacterial overgrowth
Distention, flatulence, diarrhea, weight loss , increased fecal fat, vitamin defiency
Diagnose bacterial overgrowth
Breath tests glucose lactulose
Confirmed with jejunum aspiration with quantitative bacterial cultures
Bacterial overgrowth diarrhea
Osmotic and secretory
Causes of bacterial overgrowth
Gastric achlorhydia (PPI)
Anatomical abnormalities
Motility disorder
Fistula
Treat bacterial overgrowth
Oral broad spectrum antibiotics effective against enteric aerobes and anaerobes
Rifaximin 400 mg three times daily
Short bowel syndrome
Malabsorptive condition arises secondary to removal of significant segments of the small intestine
Causes of short bowel syndrome
Crohn’s disease, mesenteric infarction, radiation enteritis, volvulus, tumor resection, trauma
The type and degree of short bowel syndrome depend on what
Length and site of the resection and degree of adaption of the remaining bowel
Terminal ideal resection
Malabsorption of bile salts and B12
Over and under 100 cm of ileum removed short bowel syndrome
Less 100-watery diarrhea
Over 100-steatorrhea and malabsorption fat soluble
-need low fat diet and vitamin supplements
What happens when have unabsorpbed fatty acids with SBS
Bind calcium reducing its absorption and enhancing absorption of oxalate-oxalate kidney stones
Cholesterol gallstones
Ho prevent oxylate kidney stones
Calcium supplements to bind oxalate and increase serum calcium
Ileocolonic valve resection
Bacterial overgrowth may occcur in the small intestine usually is well tolerated
Remaking SI can adapt
Resection of 40-50% SI
Well tolerated
Massive small bowel resection
Weight loss, diarrhea, due to nutrient and electrolyte malabsorption
Colon and 100cm of proximal jejunum removed
Maintain adequate oral nutrition
Low fat, high carb diet
Fluid and electrolyte losses may still be significant
No colon and 200 cm of proximal jejunum
Required to maintain oral nutrition
No colon and less than 100-200 cm jejunum
Need parenteral nutrition
Duodenal resection
Folate, iron, calcium malabsorption
Lactase defiency symtomis
Diarrhea, bloating, flatulence, abdominal pain after ingestion of milky
Test lactase defiency
Hydrogen breath test
What kind of diarrhea with lactase defiency
Osmotic diarrhea
What is the most common cause of chronic diarrhea in young adults
IBS
Causes of motility disorders
Postsurgical -vagotomy, partial gastrectomy, blind loop with bacterial overgrowth,
Systemic disorders-scleroderma, DM, hyperthyroidism
IBS
IBS symptoms
Altered bowel habits, abdominal pain, absence fo detectable organic pathology
What are the 3 clinical presentations of IBS
Spastic colon, alternating constipation and diarrhea, chronic, painless diarrhea
Pathophysiology IBS
Altered colonic motility at rest and in response to stress, cholinergic drugs, cholecystokinin
Altered small intestinal motility
Enhanced visceral sensation
Increased frequency of physiological disturbances
Clinical IBS
Females young
Ab pain, cramps, irregular bowel habits,
Relief of pain with bowel movement Increased frequency of stools with pain Loose stools with pain Mucus in stools Sense of incomplete evacuation
Diagnose IBS
Over 6 months
What are alarm symptoms that make IBS not IBS and suggest another diagnosis
Acute onset Nocturnal diarrhea Severe constipation or diarrhea Hematochezia Weight loss Fever-incompatible with IBS
Family history of cancer, IBD or celiac should have further evaluation
IBS is a diagnosis of ___
Exclusion
Rome criteria for IBS
Improvement with defecation
Onset associated with a change in frequency of stool
Onset associated with a change in form of stool
Treat IBS
Avoid stress and exercise -fiber doesn’t help
Diet-FODMAPS
Fermentable oligosaccharides, disaccharides, monosaccharides, and polyols
Low FODMAP diet
Acute paralytic ileus
Neurogenic failure or loss of peristalsis in the intestine in the absence of any mechanical obstruction
Commonly seen in hospitalized patients as a result of surgery, peritonitis, electrolyte abnormalities, meds, severe medical illness
Symptoms of acute paralytic ileus
NV, obstipation, distention, minimal abdominal tenderness, decreased or absent bowel sounds
Treat paralytic ileus
Restriction of oral intake with gradual liberization of diet as bowel functions eturns
Severe or prolonged needs nasogastric suction and parenteral administering of fluids and electrolytes
Acute colonic pseudo obstruction (ogilvie syndrome)
Spontaneous massive dilation of cecum or right colon without mechanical obstruction with severe abdominal distention, absent to mild abdominal pain, minimal tenderness
Symptoms acute colonic pseudo obstruction
NV
Post operative state or with severe medical illness
Consequence acute colonic pseudo obstruction
Progressive cell dilation may lead to spontaneous perforation with dire consequences
Perforation risk correlated with cecal size and duration of colonis distention
Clinical findings acute colonic pseudo Obstructive
Abdominal distention 1st Disney
Plain film with colonic dilation
Bowel movements may be absent
Ab tenderness guarding or rebound tenderness
Bowel sounds may be normal or decreased
Significant fever or leukocytosis raises concern
Imaging acute colonic pseudo obstruction
X ray ct show colonic dilation , confined to the cecum and proximal colon over 9 cm
10-12 increased risk of colonic perforation
What causes toxic megacolon
IBD, C diff/ CMV,
Fever, dehydration, significant abdominal pain
Treat acutecolonic pseudo obstruction
Conservative-is less than 12
Oral laxatives not helpful
Watched for signs of worse
Cecal size radiographs every 12 hours
Intervention if no improvement in 48 hours
Chronic infections
Giardia, e histolytica , cyclospora
Stronglyloidasus
C diff
Immune-cryptosporidium, CMV< belli, cyclospora, mycobacterium
Antibiotic associated diarrhea most not c dif and are mild and self limited)
Diarrhea during period of antibiotic exposure, dose related and resolves spontaneously after discontinuation of the antibiotic
Mild self limited
Antibiotic associated colitis (C DIFF) an anaerobic
Colonized colon and released toxins:TcdA and TcdB
More than 3 days in hospital get
C diff all over hospitals
How minimization c diff
Hand washing
What antibiotics commons for c diff antibiotic related colitis
Ampicillin, clindamycin, third generation cephalosporins, fluoroquinolones
Prophylaxis antibiotic associated colitis
Probiotics
Who has a higher risk of getting c diff and developing c diff associated diarrhea
Old, immunocompromised, antibiotics, General feeding, PPI, chemo, IBD< higher risk
Clinical findings antibiotic diarrhea from C diff
Green, foul smelling watery diarrhea 5-15 times a day with lower abdominal cramps
No blood
White count up
What should be considered in all hospital causes of leukocytosis
C diff
What are lab values suggestive of severe diarrhea
White count greater 30000
Albumin less than 2.5
Elevated serum lactase or rising creatinine
Stool study for C diff
TcdA is an enterotoxin and TcdB is a cytotoxic
Do rapid enzyme assay for both
Nuclei acid PCR for TcdB gene
PCR assays superior to EIA high sensitivity
Flexible sigmoidoscopy c diff
Pseudomembranous colitis
Epithelial ulceration with a classic volcano exudate of fibrin and neutrophils
What get is severe fulminant symptoms with c diff
CT to detect perforation
Complications c diff
Severe colitis->fulminant_>megacolon
Weight loss and protein losing enteropathy
Treat c diff
Metronidazole, vancomycin or fidazomicin
What are systemic condition
Thyroid disease
Diabetes
Collagen cascular disorders
Diverticula disease
Herniation or sac like protrusions of the mucosa through the muscularis at points of nutrient artery penetration in the SIGMOID COLON
Diverticula disease increases with __
Age
Who is disposed for diverticula disease
Connective tissue disorders
Divertoculosis
90%
Asymptomatic
If pain recurrent left lower quad relieved by defecation alternating constipation and diarrhea
Diagnose diverticulosis
Barium enema
Hemorrhage diverticulitis
Yes
Diverticulitis
Acute abdominal pain LLQ fever, mass in LLQ, laukocytosis
Constipation first-> loose stools inflammation causing narrowing only liquid stool can pass
How get diverticulitis
Inflammation->microperfoation->macroperforation with abscess or generalizer peritonitis
Physical exam diverticulitis
Mild left lower quadrant tenderness with a thickened palpable sigmoid and descending colon
Pain, fever, NV< altered bowel hablite, leukocytosis
How see diverticulitis
CT with contrast
Endoscopy diverticulitis
No -risk of perforation
Complications uncomplicated diverticulitis
Pericolic abscess, perforation, fistula, liver abscess, stricture
Treat diverticulosis
High fiber, psyllium extract, anticholinergic
Treat diverticulitis
IV fluids, NPO at first
Antibiotics
Surgical resection
Acute mesenteric ischemia
Periumbilical pain out of proportion to tenderness
Nausea, vomiting, distention, GI bleeding, altered bowel habits
Acute mesenteric ischemia x ray
Bowel distention, air fluid levels, thumbprinting (eubmucosal edema), or normal
CT with contrast and angiography acute mesenteric ischemia
Early celiac and mesenteric
Peritoneal signs acute mesenteric ischemis
Laparotomy indicated to restore intestinal blood flow obstructed by embolus or thrombosis or to respect necrotic bowel
Chronic mesenteric insuffiency
Abdominal angina-dull cramps periumbilical pain after a meal and lasting several hours (patients have food fear), weight loss, occasionally diarrhea
Evaluate with mesenteric arteriography for possible bypass graft surgery
Superior mesenteric artery syndrome
Ischemic colitis
Due to non occlusive disease in patients with atherosclerosis-splenic flexure watershed area
Who gets ischemic colitis
Cocaine,
How does ischemic colitis present
Severe lower abdominal pain followed by rectal bleeding
Abdominal x ray with ischemic colitis
Colonic dilation, thumbpinting
Sigmoidoscopy ischemic colitis
Submucosal hemorrhage , friability, ulcerations, rectum often spread
Treat ischemic colitis
NPO IV fluids
Surgical resection for infarction or post ischemic stricture
Hemorrhoids cause
Increased hydrostatic pressure in hemorrhoidla venous plexus associated with straining at stool and pregnancy
Hemorrhoids anoscopic Adam
External anal inspection
Treat hemorrhoids
Bulk laxative and stool softeners, sits baths, witch hazel compress,
External hemorrhoid
Coughing, heavy lifting, straining
Acute onset painful, bluish perinatal nodule veered with skin
Resolve 2-3 days
Stir bath help
Anal fissure
Linear or rocket shaped ulcers that are usually small
Treatment o anal canal
Posterior midline
Hematochezia
Visual see
Treat anal fissure
Fiber , topical anesthetics, relaxation of anal canal with NO or Botox
Perinatal pruritus
Poor hygiene (fistula, fissures, prolapsed hemorrhoids, skin tad, incontinence)
or
too much hygiene (contact dermatitis)
Or
Infection, std, kin conditions
Treat perinatal pruritus
Education -spicy food, tomato, coffee, clean after poop, anal ointment
Topical glucocorticoid and antifungal agent
Nisseria gonorrhoeae: anorectal infection,
Rectal swab
Pharynx urethra men
Pharynx and cervix women
Treponema pallidus: anorectal infection
Dark field microscopy or fluorescent antibody testing of scraping from the chancre of condylomata
VDRL or RPR test
Chlamydia trachomatis: anorectal infection
May cause lymphogranuloma venereum
-proctocolitis with fever and bloody diarrhea, painful perianal ulcerations, anorectal strictures and fistulae and inguinal adenopathy
Increasing in MSM
Serology, culture, PCR, rectal ischarge
Herpes 2 anorectal infection
4-21 days after exposure
Viral pcr or antigen detection of fluid
Symptoms resolve in weeks but viral shedding may continue for several weeks
Condylomata acuminata anal condylomata (genial warts)
HPV
Treat with liquid nitrogen
Perianal or anal warts are seen in what % of MSM
25%
HIV with condylomata
Relapse higher
Higher progression to dysplasia or anal cancer
Detectable serum HIV RNA levels should have anoscopic surveillance every 2-6 months
How distinguish wart from condyloma lata or anal cancer
Biopsy suspicious lesion
Treat condylomata acuminata
Sex partners examined and treated
HPV vaccines 9-26
MSM get vaccinated
Colorectal cancer screening
Start at 45
76-85 depend
Over 85-no longer if don’t have history, family history, FAP, HNPAA, history of radiation
First degree relative with colorectal cancer or adenomas under 60
Screen colonoscopy every 5 years, beginning at 40 or ten years before the age of youngest affected relative
First degree relative diagnosed over 60
Screen at 40
Inherited syndromes of colorectal cancer
FAP-stats 10-12
HNPCC-every 1-2 years at 20-25 or ten years younger than youngest age of colorectal cancer diagnosis
Polyps of the colon
Discrete mass lesions that protrude into the intestinal lumen
Sporadic or FAP
Mucosal adenomatous polyps
70%
Tubular , tubulovillous, villous
Mucosal serrated polyps
Hyperplastic, sessile serrated polyps, traditional serrated adenoma
Mucosal nonneoplastic polyps
Juvenile polyps, hamartoma, inflammatory polyps
Submucosal lesions
Lipomas lymphoid aggregates, carcinoid, pneumatosis cystoides intestinalis
What polyps have significant clinical implications
Adenomatous polyps and serrated polyps
Adenomas and serrated polyps
Non polyploid
Sessile
Pedunculated
Over 90% of adenocarcinoma of the colon are believed to arise from adenomas polyps. Majority?
Arise in adenomas after inactivation of APC gene->chromosomal instability and inactivation or loss of other tumor suppressor genes
Adenocarcinoma from serrated pathway
KRAS or BRAF with methylation of CpG rich promoter regions that lead to inactivation of tumor suppressor genes or mismatch repair genes MHL1
Clinical nonfamilial adenomatous and serrated polyps
Completely asymptomatic
Chronic occult blood loss may lead to iron defiency anemia
Large polyps may ulcerate, hematochezia
FOBT FIT
Fecal occult blood test and fecal DNA tests for CRC
What is fit
Fecal immunochemical test for hemoglobin that is more sensitive than others
Cool guard
Fecal DNA test with a fecal immunochemical test for stool hemoglobin
Barium enema CRC or CT colonography
Can see polyps
But need bowel cleansing before
See polyps larger than 10 mm
Diagnostic but not therapeutic
CT radiation
Risk that may lead to cancer
Colonoscopy CRC
Requires colon prep
Diagnostic and therapeutic
Done for all patients with FOBT, FIT< fecal or DNA tests or iron defiency anemia due to neoplasms prevelance in these patients
Polyps detected on radiologic imaging studies adenomas detected on flexible sigmoid
REMAINS BEST TEST IN MOST PATIENTS TO DETECT AND TREAT COLORECTAL POLYPS)
TREAT POLYPS
Colonoscopy polypectomy-remove with biopsy forceps , but can get perforation or bleeding
Postpolypectomy surveillance-periodic colonoscopies surveillance to detect adematous and serrated polyps for 2-10 years
What recent of colorectal cancers are germline genetic mutations
4%
Who should be screened for hereditary CRC
Family history
Family history under 50
Family history of multiple polyps
Family history of multiple extracolinic malignancies
Bethesda criteria
For screening of hereditary colorectal cancer
FAP
Early development of hundreds to thousands of colonic adematous polyps and adenocarcinoma
.5% of colorectal cancer
Extracolonic manifestsations FAP
Duodenal adenomas, Desmond tumors, osteopath
Clinical FAP
Adenomatous polyps of the duodenum and periampullary area develop
Also soft tissue tumors of the skin, Desmond tumors, osteopath, and congenital hypertrophy of the retinal pigment
Genetics FAP
APC gene AD
8% MUTYH gene AR
De novo in 15%
Treat FAP
Prophylactic colectomy recommended to prevent otherwise inevitable colon cancer
Proctocolectomy with ileocecal anastomoses
Colectomy with ileocecal anastomoses is recommended usually before 20 years
Lynch syndrome HNPCC
CRC
Endometrial cancer
Ovarian, renal or bladder, hepatobiliary, gastric, SI cancer at young age
Polyps undergo RAPID transformation 1-2 years to adenoma to cancer
Calincial HNPCC lynch
Family cancer history genetic and colonscopic screening
Meet Bethesda screening
Genetics HNPCC
AD
DNA base pair mismatches MLH1 MSH2
When suspect HNPCC
Tumor tissue histology staining for mismatch repair proteins or testing for microsatellite instability
Confirmed by genetic testing
Treat HNPCC
Subtotal colectomy with ileocecal anastomoses followed by anual surveillance
Screen for endometrial and ovarian cancer beginning at 30-55, pelvic exam, transvaginal US, endometrial sampling
*prophylactic hysterectomy and oophorectomy is recommended to women at 40 or once finished child bearin
Upper endoscopy for gastric cancer screen
Relatives screened
Gardners syndrome
Adenomatous colon polyps
95% develop colorectal polyps
Osteopath of mandible skull and long bones
Supernumerary teeth, epidermis and sebaceous teeth, thyroid and adrenal tumors
AD
Turncoats syndrome
Adenomatous colon polyps
Brain tumors
CRC 100% over 40
AD
Peutz jeghers
Hamartomatous polyps throughout GI lead to bleeding, intiussusception or obstruction
Mucocutaneous pigmented msucles on lips, buccal mucosa and skin
Familial juvenile polyposis
Several juvenile hamartomatous polyps located most commonly in colon
Increased risk of adenocarcinoma
PTEN multiple hamartoma syndrome (cowden disease)
Hamartomatous polyps and lipomas throughout GI tract trichilemommomas and cerebellar lesions
Increased rate of malignancy is demonstrated in the thyroid , breast, and urogenital tract
Genetics peutz jeghers
AD
STK11
Familial juvenile polyposis genetics
AD
Genetic defects 18q and 10q MADH2 and BMPR1A
