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	Hyperpigmentation	Fatigue	Abdominal Tenderness	Hyperpigmentation	Anemia	Gene(s)	Sertoli Cell Tumors	Gastrointestinal Tumors	Cancers
Familial Adenomatous Polyposis	+	+	-	+	+/-	-	+	APC	-	Adenoma+++	Colon, brain	Desmoid tumors, osteomas
Peutz-Jeghers syndrome
Juvenile Polyposis Syndrome	+		-	+	-	-	-	SMAD4 BMPR1A	-	Adenoma+  Hamartoma+++	Colon
Cowden Syndrome	-	-	Axillary+ Inguinal+ Facial+	-	-	Axillary+ Inguinal+ Facial+	-	PTEN	-	Adenoma+  Hamartoma+++	Breast, Thyroid, Endometrium	Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis
Carney Syndrome	-	-	Facial+ Mucosal+	-	-	Facial+ Mucosal+	-	PRKAR1A	++		Thyroid	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

References

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