polypoid diseases of git
TRANSCRIPT
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Polypoid diseases of GIT
Waqas Ali
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Objectives
• By the end of this presentation, the participants will be able to describe major polyposis syndromes of GIT
• their clinical presentation and diagnosis• Treatment and follow-up
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Polyps
• The term comes from Greek word “polypus” meaning “many footed”
• Polyps are classified as 1. Hamartomatous2. Adenomatous
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Hamartomatous polyposis
Hamartomatous polyposis syndromes
Juvenile polypJuvenile polyposis
syndromes.
Peutz-Jeghers
syndromeCowdens Disease
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Juvenile Polyp• Present at 2-5 yrs.• Most common (80%)• Bleeding per rectum or
prolapsed polyp• Diagnosis by history,
examination and colonoscopy.
• Treatment is polypectomy• Histological examination
is vital
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Juvenile polyposis syndromes• Most common hamartomatous syndrome • autosomal dominant• The term "juvenile" refers to the type of polyp, not the age of
onset of polyps. • In infancy, patients may present with acute or chronic
gastrointestinal bleeding, intussusception, rectal prolapse, or malnutrition.
• In adulthood, patients commonly present with either acute or chronic gastrointestinal blood loss.
• Polyps are located most frequently in the recto sigmoid region.
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Juvenile polyposis syndromes
• Hamartomatous polyps in the stomach, small intestine, colon, and rectum.
• Diagnostic criteria• 5 or more juvenile polyps of the colon,• polyposis involving the entire
gastrointestinal tract, • or any number of polyps in a member of
a family with a known history of juvenile polyps.
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Juvenile polyposis syndromes
• Screening by age 12 yr if symptoms have not yet arisen
• Colonoscopy with multiple random biopsies every several years
• For patients with numerous polyps total colectomy with ileoanal anastomosis is done.
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Peutz Jegher Syndrome•Autosomal dominant•Presentation include:GI bleedingIntussusceptionNasal polyposis (chronic sinusitis) Pigmented macules on the lips and digitsGynecomastia•Upper jejunum is most common location•There is also an increased risk for extra intestinal malignancies including•Cancer of the breast•Female genital tract•Thyroid•Biliary tract•Pancreas •Testes.
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Peutz Jegher Syndrome
• Diagnostic criteria…• Polyposis of small intestine, or• Any number of PJ polyps with a
family history of PJS• Characteristic prominent
mucocutaneous pigmentation with a family history of PJS
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Peutz Jegher Syndrome
Twice in year
Twice in year
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Peutz Jegher Syndrome
• Treatment includes• Admission, ng decompression when presents
with intussusception.• Obstruction needs surgery and intraoperative
enterotomy and removal of polyps is indicated.
• Goal is to remain conservative as much as possible
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Familial adenomatous polyposis
• Autosomal dominant• Mutation in APC
(protonco-gene) with 100 % expression
• Polyps start from 10-20 yrs and colorectal ca by 39 years in 100% of patients.
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Extra colonic manifestations
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FAP
• Gastric polyp :mostly are fundic gland hyperplasia and have limited malignant potential
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CHRPE( congenital hypertrophy of retinal pigment cells)
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Osteomas (Gardner syndrome)
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Attenuated familial adenomatous polyposis (AFAP)
• Approximately 25% of FAP patients remain without an identified APC mutation
• Have lower polyp number(1-50)• Later age at diagnosis• Tendency to spare the rectum.• Lower extra colonic manifestations
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Surveillance
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Management of large bowel
• Prophylactic colectomy, done early if symptomatic or severe polyposis
Surgical options 1. Proctocolectomy with end ileostomy (with or
without ileal pouch)2. Colectomy with ileoanal anastamosis3. Proctocolectomy with ileal pouch anal
anastamosis (IPAA).
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Restorative proctocolectomy
Postop surveillance
The pouch should be examined by flexible endoscopy annually, and a careful digital examination of the anorectal transition zone should be performed.
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Chemoprevention
• The number and size of colorectal adenomas is reduced
• (NSAID) –sulindac• The COX-2 inhibitor celecoxib
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Summary
• Hamartomatous polypoid diseases include Juvenile polyp Peutz Jeghers Syndrome, Juvenile polyposis syndromes & Cowden Disease.
• Adenomatous polypoid diseases include Familial Adenomatous polyposis, Gardner syndrome and Turcot syndrome