FAP (Familial adenomatous polyposis) Right Ans - -FAP is inherited in an
autosomal dominant pattern with a 100% risk of developing colon cancer by
age 40 years.
-mutation of APC gene (adenomatous polyposis coli)
-FAP develop hundreds to thousands of adenomatous polyps in the colon and
in the duodenum and stomach. Each of these is at risk for malignant
transformation.
-Dx requires at least 100 colorectal adenomatous polyps.
-should undergo total colectomy or proctocolectomy with IPAA for treatment
and risk reduction rather than segmental resection alone. There is a high risk
of recurrence in the rectum if proctectomy is not performed.
FAP screening Right Ans - -colorectal polyp develop around 16 y.o
-CRC develops 5-30 years later
-known carriers, colonoscopy at 12-14 y/o.
-once polyps identified annual screening
-upper endo every 1-3 years
-annual colonoscopy still needed after IPAA
Gardner syndrome Right Ans - -considered linked to FAP
-inherited polyposis syndrome with APC gene mutation
-causes benign tumors to form in many different organs and cause higher risk
CRC & FAP-related CAs
-associated with osteomas, epidermoid cysts, soft tissue tumors, fibromas,
and/or desmoid tumors
Gardner syndrome skin manifestations Right Ans - -epidermoid cysts,
trichilemmal hybrid, or pilomatricomas developing on the face, scalp, or limbs
of patients; something called a nuchal fibroma (diffuse induration and
swelling of the back of the neck)
-"Gardner fibroma" area of thick collagen bundles and interspersed fibroblasts
located mostly on the trunk
-Osteomas can arise on the mandible and skull.
-Dental lesions occur in almost one fifth of patients including odontomas,
absent, excess, or rudimentary teeth, or multiple caries.
,Gardner syndrome sx management Right Ans - -total colectomy is not
curative due to potential for extra intestinal tissue growth
-sx may be required for desmoid tumors obstructing organs
-ab sx can accelerate/precipitate desmoid tumor formation/growth
Gardner syndrome management Right Ans - -endo surveillance
-panoramic dental radiographs
-celecoxib (poss. cardiac issues)
-sunlindac (stomach issues) mus be on protective GI coating drugs & H2
blockers, PPIs
Peutz-Jeghers syndrome (PJS) Right Ans - -Polyposis syndrome with
formation of hamartomatous polyps in GI tract
-Rare disease, autosomal dominant inheritance (LKBI/STKII gene)
-Polyps common in small bowel, colon is most malignant area
PJS clinical presentation Right Ans - -Presents around 11 y/o
-Altered pigmentation in dark blue/brown macules around mouth, eyes,
nostrils, buccal mucosa, palmar surface of the hands, and genitalia and
perianally
-complications leading to dx: abdominal pain due to bowel obstruction,
intussusception, volvulus, and rectal bleeding
-Check family members as well
PJS diagnosis Right Ans - A definite diagnosis of PJS includes at least two of
the following characteristics: (1) hyperpigmentation of the lips or buccal
mucosa, (2) two or more hamartomatous polyps in the GI tract, or (3) a PJS
family history
PJS medical management Right Ans - -ongoing intestinal endoscopic
surveillance plus continuous screening (PAPs, mammo, testicular UA, etc.)
-SB series, capsule endo around 8 y/o
-Polyps removed endoscopically
-Surveillance endo every 2-3 years
PJS sx management Right Ans - -Acute surgical intervention is sometimes
required for intussusception, volvulus, and small bowel obstruction.
-CRCs associated with PJS should be managed like other CRCs with segmental
resection.
,-Prophylactic colectomy is not recommended for PJS given its location in
multiple body sites
-polyps are above 1.5 cm in size or are suspicious for malignancy, they should
be removed via endo or sx
diverticular disease Right Ans - -disorder that represents a spectrum of
clinical presentation varying from totally asymptomatic and uncomplicated to
acute situations requiring emergency surgery with a diversion of fecal stream
-Diverticular disease includes both diverticulosis and diverticulitis
-disease of aging, acquired over time and possible link to diet
-gut microbiome can be a factor
-other factors: NSAIDs, steroids, opiates
diverticulosis Right Ans - -the presence of colonic diverticula, that is, small
sac-like outpouchings of the intestinal wall
-most people it is discovered only incidentally at colonoscopy or barium
enema testing
-mostly asymptomatic
-2 complications: acute episodes bleeding & diverticulitis
-chronic vague GI symptoms.. mild ab pain, bloating, constipation, diarrhea,
fluctuating bowel habits
acute diverticulitis pain location Right Ans - -LLQ ab pain (usually because
sigmoid & descending colon involved)
diverticulosis medical management Right Ans - -eat high fiber diet with
supplements (psyllium or methylcellulose)
diverticulitis medical management Right Ans - -most can be managed
conservatively & outpatient
-clear liquid diet
-broad spectrum abx covering anaerobes
-metronidazole 500 mg three times daily or amoxicillin/clavulanate 875/125
mg twice daily plus either ciprofloxacin 500 mg twice daily or trimethoprim-
sulfamethoxazole 160/800 mg twice daily for 7 to 10 days or until the patient
is afebrile for 72 hours
when to hospitalize for diverticulitis Right Ans - If symptoms worsen
(increasing pain, high fevers, increased white blood cell counts, or peritoneal
, signs, e.g., rebound tenderness), patients should be hospitalized. Patients
should be NPO, be placed on IV fluids, and be given antibiotics covering
anaerobic and gram-negative bacteria usually for 5 to 7 days before
converting to oral therapy. Commonly used agents include cefoxitin,
piperacillin-tazobactam, or ticarcillin-clavulanate
stages of diverticulitis Right Ans - stage 1: pericolonic abscess
stage 2: pelvic abscess
stage 3: purulent peritonitis
stage 4: fecal peritonitis
diverticulitis Right Ans - -one or more of the diverticula become inflamed
-smoking can be a linked cause
diverticulitis & colonoscopies Right Ans - A colonoscopy should never be
done during a diverticulitis attack for risk of bowel perforation. After 6 weeks,
it should be done to rule out colon cancer
sx management diverticulitis Right Ans - -for those with diverticulitis with
complications
-elective bowel resection of worst affected areas can be done if multiple
episodes
-acute diverticulitis w complications have emergent sx & usually temp
colostomy with Hartmann's
-leaves the anus and rectal stump inside closed with staples, proximal bowel is
LLQ stoma
-sepsis resolves (12-16 weeks later) 2 segments reconnected
-can also be done in 1 stage with resection and anastomosis of 2 ends of bowel
low fiber diet theory Right Ans - Low fiber theoretically creates the higher
luminal pressures that are thought to encourage the mucosa and submucosa
to herniate through the bowel wall muscle at the sites where blood vessels
perforate the muscle layer (points of greater weakness). Diverticula may
develop more in the sigmoid colon because intraluminal pressures are highest
in this region. The theory provides a logical explanation of why diverticulosis
increases with age
(NOT MUCH PROOF)
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