Familial adenomatous polyposis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps, such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome.

Differentiating familial adenomatous polyposis from other Diseases

  • Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps including:
Diseases History and Symptoms Physical Examination Laboratory Findings Other Findings
Abdominal Pain Rectal Bleeding Fatigue Abdominal Tenderness Hyperpigmentation Anemia Gene(s) Gastrointestinal Tumors Cancers
Familial Adenomatous Polyposis + + + +/- - + APC gene

MUTYH gene

Adenoma+++
Peutz-Jeghers syndrome
Juvenile Polyposis Syndrome + + - - - SMAD4

BMPR1A

Adenoma

Hamartoma+++

Cowden Syndrome - - - - Axillary+

Inguinal+

Facial+

- PTEN Adenoma

Hamartoma+++

Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis
Carney Syndrome - - - - Facial+

Mucosal+

- PRKAR1A Myxomas of skin and heart
Hereditary Non-Polyposis Colon Cancer - + + +/- - + MLH1

MSH2

MSH3

MSH6

PMS1

PMS2

Adenoma+ Endometrial, gastric, renal pelvis, ureter, and ovarian Sebaceous adenoma

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