2. Objectives
โข By the end of this presentation, the
participants will be able to describe major
polyposis syndromes of GIT
โข their clinical presentation and diagnosis
โข Treatment and follow-up
3. Polyps
โข The term comes from Greek word โpolypusโ
meaning โmany footedโ
โข Polyps are classified as
1. Hamartomatous
2. Adenomatous
5. Juvenile Polyp
โข Present at 2-5 yrs.
โข Most common (80%)
โข Bleeding per rectum or
prolapsed polyp
โข Diagnosis by history,
examination and
colonoscopy.
โข Treatment is polypectomy
โข Histological examination
is vital
6. Juvenile polyposis syndromes
โข Most common hamartomatous syndrome
โข autosomal dominant
โข The term "juvenile" refers to the type of polyp, not the
age of onset of polyps.
โข In infancy, patients may present with acute or chronic
gastrointestinal bleeding, intussusception, rectal
prolapse, or malnutrition.
โข In adulthood, patients commonly present with either
acute or chronic gastrointestinal blood loss.
โข Polyps are located most frequently in the recto
sigmoid region.
7. Juvenile polyposis syndromes
โข Hamartomatous polyps in the
stomach, small intestine, colon,
and rectum.
โข Diagnostic criteria
โข 5 or more juvenile polyps of the
colon,
โข polyposis involving the entire
gastrointestinal tract,
โข or any number of polyps in a
member of a family with a known
history of juvenile polyps.
8. Juvenile polyposis syndromes
โข Screening by age 12 yr if symptoms have not
yet arisen
โข Colonoscopy with multiple random biopsies
every several years
โข For patients with numerous polyps total
colectomy with ileoanal anastomosis is done.
9. Peutz Jegher Syndrome
โขAutosomal dominant
โขPresentation include:
GI bleeding
Intussusception
Nasal polyposis (chronic sinusitis) Pigmented macules
on the lips and digits
Gynecomastia
โขUpper jejunum is most common location
โขThere is also an increased risk for extra intestinal
malignancies including
โขCancer of the breast
โขFemale genital tract
โขThyroid
โขBiliary tract
โขPancreas
โขTestes.
10. Peutz Jegher Syndrome
โข Diagnostic criteriaโฆ
โข Polyposis of small intestine, or
โข Any number of PJ polyps with a
family history of PJS
โข Characteristic prominent
mucocutaneous pigmentation
with a family history of PJS
12. Peutz Jegher Syndrome
โข Treatment includes
โข Admission, ng decompression when presents
with intussusception.
โข Obstruction needs surgery and intraoperative
enterotomy and removal of polyps is
indicated.
โข Goal is to remain conservative as much as
possible
13. Familial adenomatous polyposis
โข Autosomal dominant
โข Mutation in APC
(protonco-gene) with
100 % expression
โข Polyps start from 10-20
yrs and colorectal ca by
39 years in 100% of
patients.
18. Attenuated familial adenomatous polyposis (AFAP)
โข Approximately 25% of FAP patients remain
without an identified APC mutation
โข Have lower polyp number(1-50)
โข Later age at diagnosis
โข Tendency to spare the rectum.
โข Lower extra colonic manifestations
20. Management of large bowel
โข 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 anastamosis
3. Proctocolectomy with ileal pouch anal
anastamosis (IPAA).