Peutz-Jeghers syndrome differential diagnosis

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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]

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.