This presentation will help a lot in review of polypoid diseases as these are uncommon conditions.

1. Polypoid diseases of GIT
Waqas Ali

2. 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

3. Polyps
• The term comes from Greek word “polypus”
meaning “many footed”
• Polyps are classified as
1. Hamartomatous
2. Adenomatous

4. Hamartomatous polyposis
Hamartomatous polyposis syndromes
Juvenile polyp
Juvenile
polyposis
syndromes.
Peutz-
Jeghers
syndrome
Cowdens
Disease

5. 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

6. 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.

7. 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.

8. 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.

9. Peutz Jegher Syndrome
•Autosomal dominant
•Presentation include:
GI bleeding
Intussusception
Nasal polyposis (chronic sinusitis) Pigmented macules
on the lips and digits
Gynecomastia
•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.

10. 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

11. Peutz Jegher Syndrome
Twice in year
Twice in year

12. 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

13. 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.

14. Extra colonic manifestations

15. FAP
• Gastric polyp :mostly are fundic gland
hyperplasia and have limited
malignant potential

16. CHRPE( congenital hypertrophy of
retinal pigment cells)

17. Osteomas (Gardner syndrome)

18. 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

19. Surveillance

20. 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 anastamosis
3. Proctocolectomy with ileal pouch anal
anastamosis (IPAA).

21. 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.

22. Chemoprevention
• The number and size of colorectal adenomas
is reduced
• (NSAID) –sulindac
• The COX-2 inhibitor celecoxib

23. 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