Colon Flashcards
For HOW LONG do symptom have to EXIST for the diagnosis of CHRONIC CONSTIPATION?
3 MONTHS
A CONGENITAL disorder of OBSTIPATION and COLONIC DILATION PROXIMAL to a SPASTIC, NON-PROPULSIVE segment of DISTAL BOWEL resulting in ARREST of CAUDAL MIGRATION?
HIRSCHPRUNG’s DISEASE
ANTICHOLINERGICS (antispasmodics, antidepressants, antipsychotics); IRON SUPPLEMENTS, ALUMINUM (antacids, sucralfate), OPIATES, ANTIHYPERTENSIVES, CALCIUM CHANNEL BLOCKERS, 5H3-AGONISTS?
CONSTIPATING DRUGS
WITHOUT ALARM SYMPTOMS (hematochezia, weight loss >10 lbs, FH of colon cancer or IBD, ANEMIA, positive FOBT and ACUTE ONSET of constipation), are flex sig, colonoscopy, barium enema, thyroid tests, etc. warranted for CHRONIC CONSTIPATION?
NO
What is the FIRST and most PHYSIOLOGIC approach to treating CHRONIC CONSTIPATION?
Dietary FIBER (WHEAT BRAN, PSYLLIUM) DAILY - if fiber intollerant, use stimulant laxatives 2-3 times per week or osmotic laxatives daily
Which are the PREFERRED SAFE LAXATIVES to use in PREGNANCY?
PEG and LACTULOSE
Is CHRONIC use of STIMULANT LAXATIVES harmful to the COLON?
NO (goal of 2-4 stools/week)
In patients who do NOT RESPOND to CONSERVATIVE therapy AFTER DEFECATION studies have been performed, what is the NEXT TEST?
COLONIC TRANSIT STUDY (SITZ markers) - normal is NO MARKERS on days 4 and 7 on x-ray
Delayed PASSAGE of radiopaque markers through the PROXIMAL COLON with a NORMAL COLON DIAMETER and NORMAL ANORECTAL FUNCTION is known as?
COLONIC INERTIA
SLOW RECTOSIGMOID colon transit with or without MEGARECTUM?
OUTLET DELAY (dyssynergia, weak force, short-segment Hirschprung’s, rectocele)
These parameters (rectal sensation and compliance, relaxation of the internal rectal sphincter and expulsion of a water-filled balloon) are checked for the FUNCTION of the RECTUM in what exam?
ANORECTAL MANOMETRY
In the ABSENCE of DELAYED BALLOON EXPULSION, can DYSSYNERGIC DEFECATION be diagnosed based on ANORECTAL MOTILITY?
NO
Barium thickened to the consistency of stool is monitored and evacuation monitored by imaging. This test can be used to test for DEFECATION DISORDERS where ANORECTAL MANOMETRY is NOT AVAILABLE?
DEFACOGRAPHY
FAILURE to RELAX of the PUBORECTALIS and EXTERNAL ANAL SPHINCTER, or INAPPROPRIATE CONTRACTION of these muscles are found in what DEFECATION DISORDER?
DYSSYNERGIC DEFECATION (narrows the ANORECTAL ANGLE)
When TWO of the following studies are positive (ANORECTAL MANOMETRY, DEFECOGRAPHY, INNABILITY to EXPEL a water BALLOON within 2 MINUTES), ONLY then this can be DIAGNOSED?
DYSSYNERGIC DEFECATION treat with BIOFEEDBACK - habit training
What treatments should be AVOIDED in the treatment of CHRONIC MEGACOLON?
FIBER SUPPLEMENTS and OSMOTIC LAXATIVES (often need surgery)
How is INTRACTABLE CONSTIPATION treated?
Manual disimpaction, then either BID ENEMAS or PEG until cleared bowles, then PEG to produce stool every other day, with HABIT TRAINING - if no defecation in 2 days, glycerin suppositry or enema
What is the FIRST STUDY to perform when evluating a patient for REFRACTORY CONSTIPATION?
ANORECTAL MANOMETRY and BALLOON EXPULSION (before ANY other study such as colonic transit studies or biofeedback)
What can be done for a patient that has CHRONIC, SEVERE and DISABLING SYMPTOMS from CONSTIPATION UNRESPONSIVE to medical therapy; has SLOW COLONIC TRANSIT of the INERTIA PATTERN; and does NOT HAVE INTESTINAL DYSMOTILITY?
SUBTOTAL COLECTOMY with ILEORECTAL ANASTOMOSIS
What TEST should be performed BEFORE REPAIR of a RECTOCELE thought to cause CONSTIPATION?
IMPROVED RECTAL EVACUATION after pressure is placed on the POSTERIOR VAGINAL WALL
What is the TREATMENT of CHOICE for Hirschprung’s Disease?
SURGERY - excision of affected segment of bowel
What FINDING demonstrates END-STAGE COLON FAILURE?
CHRONIC MEGACOLON
NALOXONE, NALOXEGOL, NALDEMEDINE and NALTREXONE are all what types of meds?
OPIOID ANTAGONISTS used in reversing the CONSTIPATION effect of opioid analgesics
In OPIOID-INDUCED CONSTIPATION, what are the FIRST-LINE agents recommended?
LAXATIVES followed by OPIOID ANTAGONISTS (naltrexone, etc.)
BEFORE performing a COLON TRANSIT STUDY (markers), what TESTING should be done first, to EXCLUDE DEFECATION problems FIRST?
BALLOON EXPULSION TEST and ANORECTAL MANOMETRY
In a patient with CHRONIC CONSTIPATION, REGARDLESS of OPIOID use, what MUST BE TRIED FIRST before using OPIOID ANTAGONISTS and other measures to relieve the constipation?
TRADITIONAL LAXATIVES (PEG)
If ANY TWO of the following are present: straining during defecations, lumpy, hard stools, incomplete evacuation, sense of anorectal obstruction, manual disimpaction the DIAGNOSIS of this can be made?
FUNCTIONAL CONSTIPATION
SLOW PROXIMAL COLON TRANSIT that best reponds to PEG and MISOPROSTOL is called what?
COLONIC INERTIA
Intractable or disabling symptoms of COLONIC INERTIA (proximal colon), NO intestinal PSEUDOOBSTRUCTION, NORMAL ANORECTAL FUNCTION (abdominal pain is NOT predominant feature). What can be done for treatment?
SUBTOTAL COLECTOMY
MEGACOLON and MEGARECTUM, besides in children with retentive soiling, can be seen in?
Institutionalized ELDERLY, those with PARKINSON’s disease and SCHIZOPHRENIA and other PSYCHOTIC DISORDERS (treat with LOW fiber diet, enemas, PEG or surgery)
Is PAIN (progressive, awakens or prevents sleep) associated with ANOREXIA, WEIGHT LOSS or MALNUTRITION a finsing in IBS?
NO
EXAGERRATED MOTOR RESPONSE to MEALS, STRESSORS, CCK, and IMPAIRED HANDLING of INTESTINAL GAS are seen in what condition?
IBS
This can be seen in 4-30% of patients after a BACTERIAL or VIRAL ENTERITIS with DIARRHEA predominance (women, anxiety, deoression, use of antibiotics)?
POST-INFECTIOUS IBS
Does PSYCHIATRIC DISTRESS CAUSE symptoms of IBS?
NO (but it can INFLUENCE THEM)
Is there a RELIABLE BREATH TEST for SIBO?
NO
Post LACTULOSE administration, what constitutes a POSITIVE HYDROGEN BREATH TEST for SIBO?
An INCREASE of >20 ppm by 90 min or 180 min (early or late)
What strategy results in FEWER IBS-RELATED FOLLOW-UP visits?
Physician-Patient relationship with REALISTIC EXPECTATIONS and CONSISTENT LIMITS - normal life span, FODMAP DIET, reduction of GAS-PRODUCING foods
Is FOOD ALLERGY testing HELPFUL for patients with IBS?
NO
In which patients should the IBS-D medication ELUXADOLINE NOT be used in?
Those S/P CHOLECYSTECTOMY, KNOWN PANCREATICO-BILIARY DISEASE, CIRRHOSIS or HEAVY ALCOHOL USE
LINACLOTIDE, LUBIPROSTONE, PLECANATIDE, PEG, TEGASEROD (in women <65 when ALL ELSE FAILS) are ALL used to treat this condition?
IBS-C
RIFAXIMIN, ALOSETRON, LOPERAMIDE and ELUXADOLIN are all used to treat what?
IBS-D
Which SMOOTH MUSCLE relaxants and ANTI-SPASMODICS work best in IBS (short-term use)?
DICYCLOMINE, PEPPERMINT OIL (good placebo effect)
Do TCAs and SNRIs work better than placebo in IBS?
YES
FRUCTANS (onions, wheat, artichokes); GALACTANS (legumes, cabbage, Brussles sprouts); LACTOSE, SORBITOL, XYLITOL, MANNITOL and SUCRALOSE?
FODMAP (Fermentable Oligo, Di, Mono And Polyols) - AVOID THESE (low-FODMAP diet) in IBS patients
What is the BEST DIET for improving the QUALITY of LIFE in IBS patients?
LOW-FODMAP
For MODERATE to SEVERE IBS, what ELSE helps SIGNIFICANTLY besides medications (rifaximin, etc.)?
Cognitive Behaviroal Therapy (self-administered)
What should be considered FIRST in IBS-D before other treatment options?
FECAL CALPROTECTIN and if POSITIVE, COLONOSCOPY with BIOPSY
What treatment for IBS has shown the GREATEST value over PLACEBO?
PHYSICIAN-PATIENT RELATIONSHIP
In a patient with IBS-D, if intolerant to one TCA, what should be done?
SWITCH to another TCA
If LINACLOTIDE (or PLECANATIDE - same mechanism) are ineffective in treating IBS-C, what should be tried next?
LUBIPROSTONE (approved for IBS-C)
CBC, FOBT, COLORECTAL CANCER SCREENING, CRP, FECAL CALPROTECTIN, STOOL CULTURES and COLONOSCOPY are tests that should be done when working up what?
IBS with NO ALARM SYMPTOMS
This class of meds Ondansetron, Alosetron, Prucalopride are used to treat IBS?
SNRIs
Which ADENOMAS of the colon are DYSPLASTIC?
ALL, by definition (hence, all must be removed)
What is considered an ADVANCED COLON ADENOMA?
>1 cm and with HIGH-GRADE DYSPLASIA
HYPERPLASTIC polyp, SESSILE SERRATED polyp and SERRATED ADENOMAs are all types of what?
SERRATED colon polyps (hyperplastic is the only benign polyp)
Distinguishing features of a polyp that has even A SINGLE DILATED or DISTORTED CRYPT designates it as what type of polyp?
SESSILE SERRATED polyp rather than a hyperplastic polyp
When a colon lesion INVADES into the SUBMUCOSA, only then is it termed what?
CANCER (carcinoma in situ and intramucosal adenocarcinoma are NOT cancer)
Which COLON POLYPS have the HIGHEST prevalence of HIGH-GRADE DYSPLASIA?
DEPRESSED lesions (usually RIGHT colon, whereas pedunculated lesions are predominantly in the left colon)
What differentiates SUPERFICIAL from DEEP SUBMUCOSAL INVASION of a dysplastic colon polyp?
Lesions with ≥1,000 microns of SUBMUCOSAL INVASION
On ENDOSCOPY with NBI, the appearance of a polyp with DISRUPTED or AMORPHIC VASCULAR and PIT structure is suggestive of what?
A polyp with features of DEEP SUBMUCOSAL INVASION and NOT removable ENDOSCOPICALLY
What are the THREE most common MOLECULAR PATHWAYS to COLON CANCER?
1. CHROMOSOMAL INSTABILITY (ADENOMAS tubular and villous, accumulating mutations - APC, K-ras, p53)
2. HYPERMETHYLATION pathway - SERRATED polyps (BRAF, MLH1 genes)
- LYNCH - germline mutations in mismatch repair genes (MLH1, MSH2, MLH6, PMS2) microsatellite instability
In a patient in which 1 - 2 CONVENTIONAL ADENOMAS have been found on colonoscopy, WHEN should they be SCREENED next?
5-10 YEARS
In a patient found to have ≥3 ADENOMAS of ANY SIZE or ONE ≥10 mm in size WITH VILLOUS elements or HIGH-GRADE DYSPLASIA, when should SURVEILLANCE be done next?
In 3 YEARS
In a patient found to have ≥10 ADENOMAS, when should SURVEILLANCE be done next?
In LESS than <3 YEARS
In a patient found to have an ADENOMA ≥2 cm in SIZE resected in a PIECEMEAL fashion, when should SURVEILLANCE be done next?
3 - 6 MONTHS, then 1 YEAR
In a patient found to have 1 - 2 SESSILE SERRATED POLYPS <10 mm in SIZE, when should SURVEILLANCE be done next?
5 YEARS
In a patient found to have ≥3 SESSILE SERRATED POLYPS or ONE ≥10 mm in SIZE or a SESSILE SERRATED POLYP with DYSPLASIA, when should SURVEILLANCE be done next?
3 YEARS
How should a SINGE HYPERPLASTIC POLYP be treated if ≥10 mm in SIZE?
As ONE SESSILE SERRATED POLYP
Are SERRATED type polyps PEDUNCULATED?
Almost NEVER
A colon POLYP’s features such as GRANULAR (bumpy) LATERAL SPREADING are different than non-granular lesions in what IMPORTANT manner?
These have a LOWER RISK of invasive CANCER and SUBMUCOSAL FIBROSIS - can be EASILY removed ENDOSCOPICALLY even if LARGE (4 cm, etc.)
What do STAGES 0-4 in COLORECTAL CANCER represent?
Stage 0 - mucosa only
Stage 1 - submucosa
Stage 2 - invades MP
Stage 3 - LN involvement
Stage 4 - near or distant organs
Which portrends a worse outcome, a POORLY DIFFERENTIATED lesion or a WELL DIFFERENTIATED one?
POORLY DIFFERENTIATED (also distance from resection margin 1-2 mm, tangential resection)
What do these terms (CARCINOMA-IN-SITU and INTRAMUCOSAL ADENOCARCINOMA) mean?
HIGH-GRADE DSYPLASIA
What part of the colon is at HIGHEST RISK for MISSED lesions?
RIGHT COLON
What is the RECOMMENDED ADR (Adenoma Detection Rate) by ASGE - % of patients >50 yo undergoinf first time screening colonoscopy who have one or more conventional adenomas detected and removed?
25% (but goal should be 50%) (if FIT POSITIVE, its 40% with goal of 70%)
What is Lynch Syndrome?
Inherited Colorectal Cancer Syndrome (hereditary non-polyposis colon cancer)
Is NBI better than WHITE LIGHT for ADR (adenoma detection rate)?
YES!
APC GENE mutation, HUNDREDS of POLYPS, 50% of those affected develop ADENOMAS by age 15 (colon, duodenum, stomach), lipomas, fibromas, sebaceous cysts, tumors everywhere..
FAP (5q21)
By what age on average would a patient with FAP develop colon cancer unless the had a TOTAL COLECTOMY?
39
FIRST DEGREE RELATIVES (at risk) of patients with FAP should be SCREENED with APC GENE TESTING (not colonoscopy)at what age?
10-12
If a FIRST DEGREE RELATIVE is screened for APC GENE testing and found to be NEGATIVE, what MUST be done next?
Test for the MUTYH GENE (the autosomal recessive variant)
What is recommended for SCREENING and SURVEILLANCE COLONOSCOPY for a patient with FAP?
SCREENING YEARLY at PUBERTY or the age of 12 - 24, then EVERY 2 YEARS from 25 - 34, then EVERY 3 YEARS from 35 - 44 and then evry 3-5 YEARS
What are the REALTIVE indications for COLECTOMY in pt’s with FAP?
Too many polyps
What is CRAIL’s SYNDROME?
A variant of FAP also with an APC GENE mutation which results in a BRAIN MEDULOBLASTOMA associated with ADENOMATOUS POLYPOSIS
A condition in FAP where the mutation is in the MUTYH GENE and presents with LESS polyps than FAP, similar surveillance but colon cancer develops LATER (51) if no colectomy rather than (39) as in FAP?
ATTENUATED FAP
What MUTATION in ASHKENAZI JEWS causes an INCREASED RISK of colorectal cancer?
I1307K MUTATION
What are the DIFFERENCES between MAP and FAP?
MAP - MUTYH GENE affected - presents like ATTENUATED FAP, autosomal RECESSIVE, and WITHOUT osteomas, dermoid tumors or thyroid cancer. At risk for BREAST, OVARIAN and URINARY cancers. Colonoscopy every 1-2 years starting at 25-30 yo and EGD at 30-35 every 6 mo - 4 years depending on findings
FAP - APC GENE affected, autosomal DOMINANT, multiple tumors
Newly-diagnosed disease, affecting POLE and POLD1 GENES with OLIGOADENOMATOUS POLYPOSIS (<100 colorectal adenomas) with ENDOMETRIAL, BRAIN and DUODENAL cancers?
Polymerase Proofreading Associated Polyposis (PPAP)
Autosomal Dominant condition caused by mutation of the STK11 GENE on chromosome 19p with ARBORIZING polyps in the COLON, SMALL INTESTINE and STOMACH with MELANIN on the LIPS, BUCCAL mucosa, FINGERS, FEET, EYELIDS?
PEUTZ-JEGHER’s Syndrome (breast, colon, pancreas, testicular, ovarian, lung cancers)
When should you test AT-RISK (1st degree relatives of affected individual) patients for PEUTZ-JEGHER’s Syndrome and how?
Test for STK11 GENE mutations at AGE 8 and EGD/COLONOSCOPY every 1-3 YEARS
Autosomal DOMINANT, HAMARTOMAS of the SKIN, THYROID, BREAST, GIT, and ADNEXA, PTEN GENE affected on chromosome 10q, with multiple FACIAL TRICHILEMMOMAS around MOUTH, NOSE and EYES (>90% of patients) with GI LIPOMAS, GANGLIONEUROMAS?
COWDEN SYNDROME (breast and thyroid cancer, ovary, uterus and urinary)
Present in INFANCY or EARLY CHILDHOOD (age 4) with ONE or TWO polyps in the RECTOSIGMOID colon, with RECTAL BLEEDING or ANAL PROLAPSE
SOLITARY JUVENILE POLYPS - NOT INHERITED, NO INCREASED RISK of COLON CANCER
At LEAST 3-5 but usually HUNDREDS of polyps in the COLORECTUM, SMALL INTESTINE or STOMACH (HAMARTOMAS with edematous mucosa and MUCUOUS-FILLED CYSTS) with mutations in the TGF/SMAD pathway and BMPR1A on chromosome 10q22-23 and DIAGNOSIS <6 yo with RECTAL BLEEDING, ANEMIA, FAILURE TO THRIVE?
JUVENILE POLYPOSIS (39% lifetime risk of colorectal cancer) - AVMs, cardiovascular complications
Multiple NEVOID BASAL CARCINOMAS, SKELETAL ABNORMALITIES, MACROCEPHALY, and CRANIOFACIAL ABNORMALITIES associated with JUVENILE POLYPS with PTCH GENE affected?
GORLIN SYNDROME
≥5 SERRATED (hyperplastic) POLYPS PROXIMAL to the SIGMOID COLON, with TWO of these >1 CM or in a patient with this FAMILIAL DISEASE or ≥20 such polyps?
SERRATED POLYPOSIS (HYPERPLASTIC POLYPS) - HIGH (56%) lifetime risk of COLON CANCER - ANNUAL (or 1-3 years) COLONOSCOPY surveillance
A VARIANT of COWDEN SYNDROME with PIGMENTED MACULES on GLANS and SHAFT of PENIS?
Bannayan-Zonana Syndrome
NON-FAMILIAL, multiple JUVENILE POLYPS with EDEMATOUS MUCOSA in BETWEEN polyps, mean age of onset is 59 YO, CUTANEOUS HYPERPIGMENTATION, HAIR LOSS, NAIL BREAKDOWN, with DIARRHEA, MALABSORPTION, WEIGHT LOSS and EDEMA?
CRONKHITE-CANADA Syndrome
COLITIS CYSTICA PROFUNDA, is found in IBD - polypoid regenerated mucosa, sessile, NON-NEOPLASTIC and require NO TREATMENT?
INFLAMMATORY POLYPS (pseudopolyps)
Found in the TERMINAL ILEUM of patients with FAP or COMMON VARIABLE IMMUNODEFFICIENCY 1-3 mm polyps, BENIGN?
Nodular Lymphoid Hyperplasia (also associated with GIARDIA)
How is COLON CANCER ranked as far as leading causes of DEATH?
2nd (after lung cancer)
What UROLOGICAL procedure increases the risk of COLON CANCER?
URETEROSIGMOIDOSTOMY
What do these STAGES (T0, Tis, T1, T2, T3, T4a, T4b) mean in COLON CANCER?
T0 - NO TUMOR
Tis - confined to MUCOSA (HG dyplasia)
T1 - confined to SUBMUCOSA
T2 - Invaded MP but not into the serosa
T3 - Invaded the SEROSA
T4a - direct invasion of ORGANS or STRUCTURES
T4b - PERITONEUM
What do these (Nx, N0, N1, N2) LYMPH designations mean in COLON CANCER STAGING?
Nx - lymph node involvement CANNOT BE ASSESSED
N0 - NO LN involvement
N1 - 1-3 REGIONAL LNs
N2 - >4 REGIONAL LNs
SHOULD DISSECT at least 7 LNs
What do (Mx, M0 and M1) mean in COLORECTAL CANCER STAGING?
Mx - distant metastases CANNOT BE ASSESSED
M0 - NO DISTANT METS
M1 - YES DISTANT METS (non-regional LNs - common iliac, external iliac, paraaortic and supraclavicular are considered mets)
What are the American College of Gastroenterology recommendations for COLORECTAL CANCER SCREENING?
STARTING at age 45-50, ENDING at age 75-85
COLONOSCOPY every 10 YEARS (ANNUAL FIT if refuses)
OR
FLEX SIG every 5-10 YEARS OR CT COLOGRAPHY every 5 YEARS OR ANNUAL HEMOCCULT OR FECAL DNA every 3 YEARS
What is the SEROLOGIC TEST for COLORECTAL CANCER SCREENING?
SEPTIN-9
People with COLORECTAL CANCER or ADVANCED ADENOMA in TWO 1st degree RELATIVES (any age) or COLORECTAL CANCER or ADVANCED ADENOMA in ONE 1st degree REALTIVE <60 yo, WHEN should colorectal cancer SCREENING BEGIN?
COLONOSCOPY every 5 YEARS beginning 10 YEARS BEFORE the age of diagnosis of the YOUNGEST AFFECTED or age 40, whichever is EARLIER
In patients who are GENETIC FAP (APC) CARRIERS, WHEN should they get SCREENED for colon cancer?
Beginning at PUBERTY (age 10-12)and offered a FLEX SIG YEARLY
People with colorectal cancer in MULTIPLE 1st DEGREE relatives, accross generations, young age, etc. should be handled HOW as far as SCREENING is concerned?
GENETIC COUNSELING and SCREENING COLONOSCOPY every 1-2 YEARS beginnig at AGE 20-25 or 2-5 YEARS EARLIER if youngest was BEFORE age 20
Which type of colon POLYP has the HIGHEST incidence of cancer according to SIZE?
VILLOUS (HIGHEST) > tubulovillous > tubular
In patients with IBD, what is the colon cancer SCREENING consensus?
Start 8-10 YEARS after diganosis (15 years if only LEFT SIDED) and perform every 1-2 YEARS with 4-QUADRANT biopsies every 10 CM
What is the STANDARD in testing ALL patients found to have COLORECTAL CANCER?
Test for LYNCH SYNDROME (immunohistochemistry for the abence of the MISMATCH REPAIR GENE or MICROSATELLITE INSTABILITY - MLH1, BRAF) and if POSITIVE, genetic COUNSELING
What is the STANDARD for SCREENING AFTER COLORECTAL CANCER SURGERY if STAGE I, II, III?
STAGE I At 1 YEAR and the 3 YEARS and 5 YEARS
STAGE II & 3 PHYSICAL EXAM & CEA every 3-6 MONTHS for 2 YEARS then every 6 MONTHS for 5 YEARS; CT C/A/P every 6 mo - 1 year for 5 YEARS and COLONOSCOPY at 1 YEAR, 3 YEARS, 5 YEARS after SURGERY
In what patients with STAGE III COLON CANCER are the drugs 5-FU + LEUCOVORIN, FOLFOX, CAPECITBINE + OXALIPATIN, CETUXIMAB (EGFR), PENITUMUMAB (EGFR), BEVACIZUMAB (VEGF), PEMBROLIZUMAB (PD-L1)
Post-OP ADJUVANT CHEMOTHERAPY
EPCAM gene mutation results in what SYNDROME?
Lynch Syndrome (HNPCC if same syndrome but NO MUTATION)
AD disorder, 3% of all COLON CANCER cases, 80% of lifetime risk of COLON CANCER, younger age at onset (44), RIGHT side of colon, polyps are VILLOUS, MUCIONOUS, POORLY DIFFERENTIATED and with a LYMPHOID host-response to the tumor?
Lynch Syndrome
Lynch Syndrome is ASSOCIATED with which extra-intestinal CANCERS?
ENDOMETRIAL, OVARIAN, stomach, small bowel, ovary, ureter and bilairy
What is REQUIRED to diagnose HNPCC?
≥3 relatives with COLON CANCER (one has to be a 1st degree relative); COLORECTAL CANCER involving at least 2 GENERATIONS and at least one case diagnosed BEFORE AGE 50
Which MISMATCH REPAIR GENES are associated with LYNCH SYNDROME?
MSH1, MSH2, MLH1 (MSH6 and PMS2 have less risk, “attenuated” form - but higher risk of ENDOMETRIAL cancer)
What is the advantage in MSI-positive (microsatellite inatability) tumors in HNPCC?
SURVIVAL ADVANTAGE
ALL patients diagnosed with COLORECTAL CANCER are screened for what?
LYNCH SYNDROME (absence of MISMATCHED GENE PROTEINS)
Besides COLORECTAL CANCER SCREENING yearly beginning at age 20-25 in pts with LYNCH SYNDROME, and EGD every 2 years with GASTRIC BIOPSIES starting at age 30-35, what ELSE should be screened for?
At age 30, ANNUAL ENDOMETRIAL CANCER screening and TV US for OVARIAN CANCER, URINALYSIS annualy and HYSTERECTOMY at age 40 or when childbearing is complete
What is a VARIANT of LYNCH SYNDROME with SEBACEOUS tumors?
Muir-Torre Syndrome
A VARIANT of LYNCH SYNDROME with BRAIN TUMORS (glioblastoma and astrocytoma)?
TURCOT SYNDROME
This VARIANT of LYNCH SYNDROME is AR and occurrs with tumors and polyps everywhere including the BRAIN and occurs in CHILDREN, such as SCREENING starts at 8 YO?
BMMRD (Biallelic Mismatch Repair Defficiency)
In this SYNDROME, there is MICROSATELLITE STABILITY in the COLON (only colon tumors) tumors?
Familial Colorectal Cancer Syndrome Type X
In a patient with FAP, what ANNUAL SCREENING must they have besides ANNUAL SIGMOIDOSCOPY for retained RECTUM as they are NOT at an increased risk of GYN or gastric cancers (LOW)?
ANNUAL THYROID CANCER SCREENING (4-10% risk)
At WHAT AGE is it recommended for women with LYNCH SYNDROME (MSH2) to have PROPHYLACTIC removal of the OVARIES and UTERUS?
40 (colonoscopy at age 20-25) - no associated increased breast cancer risk
Polyposis with polyps containing EDEMATOUS MUCOSA and DILATED CYSTIC CRYPTS (colon and stomach)?
JUVENILE POLYPOSIS (SMAD4 or BMPR1a)
A patient was found on colonoscopy to have 21 SESSILE SERRATED (hyperplastic) polyps, waht is the INHERITANCE RISK of this condition?
What do patients with JUVENILE POLYPOSIS (SMAD4 or BMPR1a) demonstrated by polyps with EDEMATOUS MUCOSA and DILATED CYSTIC CRYPTS have to be SCREEND for besides colonoscopy and EGD?
Hemorrhagic Telangiectasia Syndrome (AV malformations in LUNG and BRAIN)
What EXTRA-COLONIC manifestations are there in SERRATED POLYPOSIS SYNDROME (multiple hyperplastic polyps)?
Genetic MUTATIONS in the POLE and POLD genes are found in WHICH POLYPS?
ADENOMATOUS POLYPS (not in serrated ones)
OSTEOMAS (skull and long bones), FIBROMAS, LIPOMAS, EPIDERMOID CYSTS (skin), EYE, THYROID, SMALL BOWEL, LIVER (hepatoblastoma) and ANGIOFIBROMAS are all associated with this SYNDROME?
FAP (APC gene)
How OFTEN and at what AGE is SCREENING (colonoscopy) performed in patients with FAP?
Starting at AGE 12 - YEARLY
then EVERY 2 YEARS at 25
then EVERY 3 YEARS at 35
AFTER SURGERY (colectomy) in patients with FAP, what is still SCREENED for YEARLY?
RECTUM (ileorectal anastomosis)
EGD (upper GI)
THYROID
Desmoids
<100 POLYPS found, LATER onset of COLORECTAL CANCER (51 vs 39) HETEROGENEOUS?
ATTENUATED FAP (MUYTH gene, also in MAP - MUYTH-associated polyposis)
How is MAP (MUYTH-associated polyposis) different than FAP?
NO OSTEOMAS, NO THYROID CANCER, NO EYE involvement, NO DESMOIDS
What do CRALI’S (APC) and TURCOT’s (MMR) SYNDROMES have in common?
POLYPOSIS and BRAIN TUMORS
Associated with the STK11 GENE and SPARES this part of the GI tract?
PEUTZ-JEGHER’s
Which POLYPOSIS SYNDROME causes CANCERS in the STOMACH (remove small bowel polyps >15 mm), COLON (remove polyps >5 mm), BREAST, PANCREAS, OVARY, TESTICULAR and LUNG?
PEUTZ-JEGHER’S
On COLONOSCOPY, if you find >10 TUBULAR ADENOMAS, what is the recommended SCREENING INTERVAL?
<3 YEARS
AD, SMAD4 and BMPR1A, GASTRIC, DUODENAL, PANCREATIC tumors, SCREENING starting at AGE 12 and associated with LUNG and BRAIN AVMs, polyps are EDEMATOUS and have CYSTIC CRYPTS?
JUVENILE POLYPOSIS
Mutation in the PTEN gene, BREAST, THYROID, RENAL, CEREBELLAR cancers, HAMARTOMAS of the SKIN, MUCOUS MEMBRANES, THYROID, BREAST and COLON (GANGLIONEUROMAS), MACROCEPHALY and PAPILLOMATOSIS?
COWDEN DISEASE
On COLONOSCOPY, if you find NO POLYPS or HYPERPLASTIC POLYPS <10 mm, what is the recommended SCREENING INTERVAL?
10 YEARS
On COLONOSCOPY, if you find 1-2 TUBULAR ADENOMAS <10 mm, what is the recommended SCREENING INTERVAL?
5-10 YEARS
On COLONOSCOPY, if you find 3-10 TUBULAR ADENOMAS, what is the recommended SCREENING INTERVAL?
3 YEARS
On COLONOSCOPY, if you find TUBULAR ADENOMA >10 mm, what is the recommended SCREENING INTERVAL?
3 YEARS
On COLONOSCOPY, if you find a VILLOUS ADENOMA, what is the recommended SCREENING INTERVAL?
3 YEARS
On COLONOSCOPY, if you find an ADENOMA with HIGH-GRADE DYSPLASIA, what is the recommended SCREENING INTERVAL?
3 YEARS
AVERAGE RISK COLORECTAL CANCER SCREENING TEAR 1?
Colonoscopy every 10 YEARS, ANNUAL FIT
AVERAGE RISK COLORECTAL CANCER SCREENING TEAR 2?
Virtual Colonoscopy every 5 YEARS
Flexible Sigmoidoscopy every 5-10 YEARS
FIT/FECAL DNA every 3 YEARS
AVERAGE RISK COLORECTAL CANCER SCREENING TEAR 3?
CAPSULE Colonoscopy every 5 YEARS
What is the FDA-APPROVED SERUM test for COLORECTAL CANCER SCREENING?
SEPTIN-9
If a patient has a RELATIVE >60 YO, that was found to have COLON CANCER or an ADVANCED ADENOMA, wehn should they be SCREENED and HOW OFTEN?
Starting at AGE 40 and ROUTINE INTERVAL (not every 5 years)
What PART of th COLON do SPORADIC COLON CANCERS develop in, what about LYNCH SYNDROME CANCERS?
SPORADIC - LEFT COLON
LYNCH - RIGHT COLON
COLON CANCER arising from MISMATCH REPAIR GENE failure?
LYNCH SYNDROME (microsattelite, BRAF)
If COLORECTAL CANCER is found and you performe IMMUNOHISTOCHEMICAL TESTING (IHC) and ALL PROTEINS ARE PRESENT, what is done NEXT?
NOT LYNCH SYNDROME - no further testing
If COLORECTAL CANCER is found and you performe IMMUNOHISTOCHEMICAL TESTING (IHC) and there is LOSS of MLH1 and PMS2, what is done NEXT?
PROMOTER hypermethylation or BRAF TESTING - if PRESENT, NOT LYNCH, no further testing
If COLORECTAL CANCER is found and you performe IMMUNOHISTOCHEMICAL TESTING (IHC) and there is LOSS of MLH1 and PMS2, what is done NEXT?
PROMOTER hypermethylation or BRAF TESTING - if NOT PRESENT, POSITIVE for LYNCH SYNDROME - REFER TO GENETIC COUNSELING for germline mutation testing
If COLORECTAL CANCER is found and you performe IMMUNOHISTOCHEMICAL TESTING (IHC) and there is LOSS of OTHER PROTEINS (not MLH1 or PMS2) what is done NEXT?
POSITIVE for LYNCH SYNDROME - REFER TO GENETIC COUNSELING for germline mutation testing
In a patient with SESSILE SERRATED POLYPOSIS (not hyperplastic) with finding of POLYPS <10 mm PROXIMAL to SIGMOID and NO DYSPLASIA, what is the SCREENING INTERVAL?
EVERY 5 YEARS
In a patient with SESSILE SERRATED POLYPOSIS (not hyperplastic) with finding of POLYPS >10 mm OR with DYSPLASIA OR TRADITIONAL SERRATED ADENOMA, what is the SCREENING INTERVAL?
3 YEARS
In a patient with SERRATED POLYPOSIS (>20 hyperplastic), what is the SCREENING INTERVAL?
YEARLY
What is the RISK of RELAPSE of CROHN’S disease at 1 year and 5 years POST-SURGERY?
53% at 1 YEAR
85% at 5 YEARS
What is considered a HIGH-RISK patient with CHROHN’S DISEASE?
A patient who developed CROHN’S after the age of 40, has ILEAL INVOLVEMENT, is a SMOKER, requires STEROIDS or has a FISTULA in the FIRST FEW MONTHS of DIAGNOSIS
What CANCER are CROHN’S disease patients susceptible to besides COLON CANCER?
NON-HODGKINS LYMPHOMA
What role does the APPENDIX play in ULCERATIVE COLITIS?
An APPENDECTOMY performed for APPENDICITIS rather than abdominal pain has a PROTECTIVE role AGAINST DEVELOPMENT of UC
A patient with ULCERATIVE COLITIS that is >40 years old, has EXTENSIVE COLITIS, DEEP ULCERS, HIGH CRP and ESR, requires STEROIDS, HOSPITALIZATIONS, history of C. DIFF and CMV are at HIGH RISK for what?
Requiring a COLECTOMY
What AGE of ONSET is considered HIGH-RISK for a CROHN’S DISEASE patient?
Age <30 (young)
What GENETIC DEFECT is associated with IBD?
CARD15 (used to be NOD2)
What are genetic markers DNAse SENSITIVE pANCA, ASCA, OmpC and CBir-1 associated with?
IBD (DNAse sensitive pANCA is for UC & CD; whereas ASCA is for CD); OmpC (CD); CBir-1 (CD)
What is the REMAINING risk when a patient with UC has a total colectomy?
POUCHITIS (ileal pouch-anal anastomosis)
HIGH LEVELS of ASCA and DNAse SENSITIVE pANCA in a patient with CROHN’S DISEASE portrends what?
Aggressive SMALL INTESTINAL DISEASE
What is the recommended INITIAL THERAPY for ULCERATIVE COLITIS?
TOPICAL + ORAL 5-ASA drugs
6-MP is broken down by the TPMT enzyme into a therapeutically-active metabolite and one that is not, which is which?
6-MMPN is INACTIVE - can cause HEPATOTOXICITY
6-TGN is active - can cause MYELOTOXICITY
What should be done PRIOR to initating 6-MP or AZA treatment for IBD?
Test for the TPMT enzyme to determine MUTATIONS causing RAPID 6-TGN production and MYELOTOXICITY (neutropenia)
Which agent is HELPFUL in INDUCTION and MAINTENANCE of REMISSION as well as reduce IMMUNOGENICITY in CROHN’S disease (does NOT WORK in UC)?
METHOTREXATE
Infliximab (fistulas), Adalimumab (if failed infliximab), Certolizumab (CD only), Golimumab (UC only) are what tye of agents?
anti-TNF-alpha
What MUST be done BEFORE using anti-TNF-alpha agents?
Test for TB and HEPATITIS B for possible REACTIVATION
If a patient on an anti-TNF-alpha agent presents with FEVER and COUGH, what MUST be SUSPECTED?
INFECTION (FUNGAL)
In a patient on an anti-TNF-alpha agent presents with a PSORIAFORM rash, what should be done?
STOP THERAPY
What CANCER RISK exists with the anti-TNF-alpha agents?
LYMPHOMA (especially patients with RHEUMATOID ARTHRITIS)
Which anti-TNF-alpha agent does NOT have a RISK of LYMPHOMA nor JC-VIRUS REACTIVATION (pml)?
VEDOLIZUMAB (used for UC and CD)
What should IBD patients be treated with IMMEDIATELY POST-OP for BEST RATES of REMISSION?
anti-TNF-alpha (adalimumab best)
This CROHN’S DISEASE antibiologic targets INTERLUKINS IL-12 and IL-23 and is an INFUSION given every 8 WEEKS?
USTEKINUMAB
An antibiologic used for moderate to severe active ULCERATIVE COLITIS that targets JAK 1, 2, 3 and acts VERY RAPIDLY to stop bleeding is?
TOFACITINIB (adverse effects are HERPES ZOSTER and elevated CHOLESTEROL)
In what IBD cases is an ELEMENTAL DIET as EFFICACIOUS as STEROIDS?
CROHN’S DISEASE with SMALL BOWEL involvement
What INFECTION are IBD patients SUSCEPTILE to by virtue of the disease itself not treatment?
CLOSTRIDIUM DIFFICILE
What PREVENTS POUCHITIS and what is used to TREAT IT?
PROBIOTICS prevent it
METRONIDAZOLE treats it (or ciprofloxacin)
Flat SKIN lesions in IBD patients on the EXTENSOR surfaces of LOWER EXTREMITIES which turn painful and parallel GI symptoms
Eryhtema Nodosum
This lesion sarts out as a NODULE or ULCER in IBD patients on the EXTENSOR surfaces of LOWER EXTREMITIES which turns bigger with manipulation and time.
Pyoderma Gangrenosum
Joint arthralgias, arthritis, ankylosing spondylitis, uveitis and episcleritis (immediate ophthalmologist attention) are all extra-intestinal manufestations of what?
IBD (erythema nodosum and pyoderma gangrenosum as well)
PRE-MALIGNANT condition associated with IBD that can cause liver cirrhosis and need for transplantation, no other treatment available, what is this?
Primary Sclerosing Cholangitis (PSC) - persistently elevated alk phos
What is the INCREASED RISK for COLORECTAL CANCER in patients with UC over the general population?
INCREASE of 10% after 30 YEARS of DISEASE
Does IBD result in INFERTILITY?
UC - ONLY if had POUCH PROCEDURE
CD - scarring of fallopian tubes due to pelvic inflammation
BEST OUTCOMES - CONCEPTION when in REMISSION
What medication CANNOT be used in PREGNANCY to treat IBD?
METHOTREXATE (all other meds ok in LOWEST EFFECTIVE DOSE)
What is the RECOMMENDATION for VACCINATION of infants born to mothers actively treated for IBD?
NO LIVE VACCINATIONS (rotavirus, BCG) for the first 6 MONTHS of life)
In how many patients with UC is the RECTUM involved?
>99%
Which IBD disease is MORE COMMON in NON-SMOKERS or EX-SMOKERS?
ULCERATIVE COLITIS (smoking can induce remission but NEVER recommended)
Can REGULAR USE of HIGH-DOSE NSAIDs lead to disease flares in IBD?
YES
What is the BEST mode of treatment of LEFT-SIDED (most common) ULCERATIVE COLITIS and what is done for more ACTIVE disease?
TOPICAL (enemas, suppositories) meds, ADD ORAL ones for more active disease
THIOPURINES (azathioprine and 6-MP) have an INCREASED RISK of what?
NON-MELANOMA skin cancers (make the skin photosensitive), and LYMPHOMA, HPV
The RISK of WHAT returns to BASELINE if THIOPURINES (azathioprine and 6-MP) are DISCONTINUED?
LYMPHOMA
In patients with GOOD BLOOD LEVELS of anti-TNF-alpha inhibitors like INFLIXIMAB who DO NOT RESPOND to therapy, how MUST treatment be CHANGED?
Use of NON anti-TNF-alpha inhibitors such as vedolizumab, ustekinumab, natalizumab
How MUST treatment be CHANGED in a patient who PREVIOUSLY RESPONDED but developed ANTIBODIES to one anti-TNF-alpha inhibitor?
COMBINATION therapy with another anti-TNF-alpha inhibitor
Which IBD medications cause PALMAR PLANTAR PUSTULOSIS as an adverse effect?
anti-TNF-alpha inhibitors (adalimumab, infliximab) - change class of drug
Peripheral ARTHRITIS and ARTHRALGIAS are noted in IBD usually with what? How is it treated?
Active and more bothersome with ACTIVE DISEASE
Treat by TREATING ACTIVE DISEASE and INCREASE DOSAGE as needed
What drug is a CHIMERIC IgG1 Ab to TNF-alpha?
INFLIXIMAB