Peutz-Jeghers Syndrome

Question 1

What type of genetic condition is Peutz-Jeghers syndrome?

Answer 1

Autosomal dominant

This means that only one copy of the mutated gene is sufficient to cause the disorder.

Question 2

What gene is responsible for Peutz-Jeghers syndrome?

Answer 2

LKB1 or STK11

This gene encodes a serine threonine kinase.

Question 3

What are the main gastrointestinal features of Peutz-Jeghers syndrome?

Answer 3

Hamartomatous polyps in the gastrointestinal tract

Mainly found in the small bowel.

Question 4

What is a common presenting complaint in patients with Peutz-Jeghers syndrome?

Answer 4

Small bowel obstruction

Often caused by intussusception.

Question 5

What type of skin lesions are associated with Peutz-Jeghers syndrome?

Answer 5

Pigmented lesions

Found on lips, oral mucosa, face, palms, and soles.

Question 6

What is the typical outcome for patients with Peutz-Jeghers syndrome by the age of 60?

Answer 6

Around 50% will have died from another gastrointestinal tract cancer

Indicates significant cancer risk associated with the syndrome.

Question 7

What is the management approach for Peutz-Jeghers syndrome?

Answer 7

Conservative unless complications develop

Management may include monitoring and intervention if necessary.

Question 8

Fill in the blank: Peutz-Jeghers syndrome is characterised by numerous _______ in the gastrointestinal tract.

Answer 8

hamartomatous polyps

Question 9

True or False: The polyps in Peutz-Jeghers syndrome have malignant potential.

Answer 9

False

The polyps themselves do not have malignant potential.