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 polyp Macrocephaly Breast fibrosis
Carney Syndrome	–	–	–	–	Facial+ Mucosal+	–	PRKAR1A		Thyroid Sertoli Cell	Myxoma of skin Myxoma of heart
Hereditary Non–Polyposis Colon Cancer	–	+	+	+/–	–	+	MLH1 MSH2 MSH3 MSH6 PMS1 PMS2	Adenoma+	Endometrium Stomach Kidneys Ureter Ovaries	Sebaceous adenoma

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