Peutz Jegher’s Syndrome

Peutz Jeghers Syndrome- 

• Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an Autosomal Dominant Genetic Disease characterized by the development of benign polyps in the gastrointestinal tract and pigments in mouth.

TYPES:

• Familial
• Sporadic

ETIOLOGY:

• Mutation of tumor suppressor gene
• Autosomal dominant condition

CHARACTERISTIC FEATURES:

• Unusual skin freckling
• Multiple  benign hamartomatous polyps of small intestine( most commonly on jejunum)
• Hypertrophy of smooth muscle layer
• Melanosis (Brown macules) on oral mucosa, perioral region, lips & finger

SIGNS & SYMPTOMS:

• Abdominal pain
• Blood in stools
• Intussusception
• Exostosis
• Anemia

DIAGNOSIS:

• Mucocutaneous lesions
• Hamartomatous polyps
• Gene testing
• Germline heterozygous loss-of-function mutations in the gene STKil are present in approximately half of individuals with familial Peutz-Jeghers syndrome as well as a subset of patients with sporadic Peutz-Jeghers syndrome.

SCREENING TEST:

• Radiological tests
• CBC
• Stool for occult blood
• Pap test and pelvic examination
• Carcinoma screening tests

COMPLICATTIONS:

• Intestinal blockage
• CA GIT(39% )
• CA pancreas
• CA breast

TREATMENT:

• Surgery:Polypectomy on colonoscopy is treatment of choice in  Peutz Jegher’s Syndrome 
• >1.5cm enteroscopicpolypectomy
• Double ballon or capsule endoscopy with polypectomy
• Iron supplements

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