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Peutz-Jeghers syndrome differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

Peutz-Jeghers syndrome must be differentiated from other diseases that cause hamartomatous polyps and mucocutaneous pigmentation, such as Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, juvenile polyposis, and McCune-Albright syndrome.

Differentiating Peutz-Jeghers Syndrome from other Diseases

Peutz-Jeghers syndrome must be differentiated from the following diseases:[1][2]

Differential diagnosis according to polys:

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
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
Familial Adenomatous Polyposis + + – + +/- – + APC – Adenoma+++ Colon, brain Desmoid tumors, osteomas
Hereditary Non-Polyposis Colon Cancer – + – + +/- – + MLH1

MSH2

MSH3

MSH6

PMS1

PMS2

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

Differential of gastrointestinal bleeding
Disease Clinical manifestations Diagnosis Comments
Symptoms Signs
Abdominal Pain Fever Rigors and chills Nausea or vomiting Jaundice Constipation Diarrhea Weight loss GI bleeding Hypo-

tension

Guarding Rebound Tenderness Bowel sounds Lab Findings Imaging
Peutz-Jeghers syndrome Depends on location of polyps it maybe present ± – ± – ± ± ±
  • Rectal bleeding may be present due to polyp
 – – – +
  • Hamartomatous polyps present on endoscopy
  • Iron deficiency anemia on CBC
  • STK11 mutation
  • Intra-operative enteroscopy (laparatomy with endoscopy
  • Double balloon eneteroscopy
  • Colonoscopy
  • Barium Swallow
  • Can lead to colon cancer, breast cancer, ovarian cancer, cervical cancer, and testicular cancer
Peptic ulcer disease Diffuse ± − + − − − + Positive if perforated Positive if perforated Positive if perforated N
  • Ascitic fluid
    • LDH > serum LDH
    • Glucose < 50mg/dl
    • Total protein > 1g/dl
Gastritis Epigastric ± − + − − − Positive in chronic gastritis + − − − N
Gastrointestinal perforation Diffuse + ± – ± − − − + + + ± Hyperactive/hypoactive
  • WBC> 10,000
Acute diverticulitis LLQ + ± + − + ± − + Positive in perforated diverticulitis + + Hypoactive
  • CT scan
  • Ultrasound
Inflammatory bowel disease Diffuse ± − − ± − + + + − − − Normal or hyperactive

Extra intestinal findings:

Infective colitis Diffuse + − ± − − + − + Positive in fulminant colitis ± ± Hyperactive CT scan
  • Bowel wall thickening
  • Edema
Colon carcinoma Diffuse/localized − − − − ± ± + + ± − −
  • Normal or hyperactive if obstruction present
  • CBC
  • Carcinoembryonic antigen (CEA)
  • Colonoscopy
  • Flexible sigmoidoscopy
  • Barium enema
  • CT colonography 
  • PILLCAM 2: A colon capsule for CRC screening may be used in patients with an incomplete colonoscopy who lacks obstruction
Budd-Chiari syndrome RUQ ± − − ± − − − Positive in liver failure leading to varices − − − N
Findings on CT scan suggestive of Budd-Chiari syndrome include:
Ascitic fluid examination shows:
Hemochromatosis RUQ − − − − − − − Positive in cirrhotic patients − − − N
  • >60% TS
  • >240 μg/L SF
  • Raised LFT
    Hyperglycemia
  • Ultrasound shows evidence of cirrhosis
 Extra intestinal findings:
  • Hyperpigmentation
  • Diabetes mellitus
  • Arthralgia
  • Impotence in males
  • Cardiomyopathy
  • Atherosclerosis
  • Hypopituitarism
  • Hypothyroidism
  • Extrahepatic cancer
  • Prone to specific infections
Cirrhosis RUQ − − − + − − + + + − − N US
  • Stigmata of liver disease
  • Cruveilhier- Baumgarten murmur
Mesenteric ischemia Periumbilical Positive if bowel becomes gangrenous − + − − + + + Positive if bowel becomes gangrenous Positive if bowel becomes gangrenous − Hyperactive to absent CT angiography
  • SMA or SMV thrombosis
  • Also known as abdominal angina that worsens with eating
Acute ischemic colitis Diffuse + ± + − − + + + + + + Hyperactive then absent Abdominal x-ray
  • Distension and pneumatosis

CT scan

  • Double halo appearance, thumbprinting
  • Thickening of bowel
  • May lead to shock
Ruptured abdominal aortic aneurysm Diffuse ± − + − − − + + + − − N
  • Focused Assessment with Sonography in Trauma (FAST) 
  • Unstable hemodynamics
Intra-abdominal or retroperitoneal hemorrhage Diffuse ± − ± − − − − + + − − N
  • ↓ Hb
  • ↓ Hct
  • CT scan

References

  1. ↑ Buck, J L; Harned, R K; Lichtenstein, J E; Sobin, L H (1992). “Peutz-Jeghers syndrome”. RadioGraphics. 12 (2): 365–378. doi:10.1148/radiographics.12.2.1561426. ISSN 0271-5333.
  2. ↑ “Peutz-Jeghers Syndrome – GeneReviews® – NCBI Bookshelf”.

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