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Peutz-Jegher’s Syndrome 

Title               

Ñ    Peutz-Jegher’s Syndrome

Definition

Ñ    Autosomal dominant hereditary disease

Characterised by:

Ñ    Hamartomatous polyps of the gastrointestinal tract

Ñ    Mucocutaneous melanin deposits.

Aetiology

Ñ    Autosomal dominant inheritance

Ñ    Mutant gene on chromosome 19

Pathogenesis

Ñ    Hamartomatous polyps found anywhere in the gastrointestinal tract

Ñ    Most common in the small intestine

Ñ    They may bleed, obstruct the small intestine or cause intussusception

Clinical Features

History

Age

Ñ    Approximately 50% have symptoms by the age of 20

GIT

Ñ    Abdominal pain:

Intestinal obstruction

Intussusception

Examination

IS

Ñ    Freckles:

Lips

Mouth

Eyes

Nose

Anus

Hands

Feet

HS

Ñ    Anaemia:

Bleeding polyps

Complications

E&M

Ñ    Thyroid malignancies:

More common than in the general population

GIT

Ñ    Malignancies of the gastrointestinal tract

Ñ    Pancreatic malignancies:

More common than in the general population

RAG

Ñ    Tumours of the testes and ovaries

Ñ    Cancer of the breast and cervix:

More common than in the general population

Investigations

Fluids

Blood

Genetic testing

Ñ    Genotype:

Abnormal gene

Imaging

Small bowel studies

Ñ    Detect small intestinal polyps

Endoscopy

Upper gastrointestinal endoscopy

Ñ    Detect polyps

Colonoscopy

Ñ    Detect polyps

Capsule endoscopy

Ñ    Detect polyps

Management

Control

Surgery

Ñ    Obstruction

Ñ    Intussusception

Ñ    Small intestinal polyps over 1 cm should be removed, as they are likely to cause obstruction or intussusception.

Ñ    Gastroduodenal polyps and colonic polyps should be removed as they may cause anaemia

Prevention

Surveillance

Ñ    Upper and lower gastrointestinal endoscopy

Ñ    Pap smear and transvaginal ultrasound

Ñ    Breast examination

Ñ    Testicular examination

Ñ    Other organs as directed by family history

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