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:
  • Peutz-Jeghers syndrome
  • Familial juvenile polyps or hyperplastic polyposis
  • Hereditary mixed polyposis syndromes
  • Lynch syndrome

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+++	Colon Brain Thyroid	Desmoid tumor Osteoma
Peutz-Jeghers syndrome
Juvenile Polyposis Syndrome	+		+	-	-	-	SMAD4 BMPR1A	Adenoma+  Hamartoma+++	Colon
Cowden Syndrome	-	-	-	-	Axillary+ Inguinal+ Facial+	-	PTEN	Adenoma+  Hamartoma+++	Breast Thyroid Endometrium	Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis
Carney Syndrome	-	-	-	-	Facial+ Mucosal+	-	PRKAR1A		Thyroid Sertoli Cell	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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