Small bowel Genetic Disorders

Question 1

What is abetalipoproteinaemia?

Answer 1

Congenital disorder due to failure of apo B-100 synthesis in the liver & apo B- 48 in the intestinal cells
Chylomicrons aren’t formed
Fat accumulation in intestinal cells

Question 2

How does abetalipoproteinaemia present?

Answer 2

Acanthocytosis- spiky red cells
Retinitis pigmentosa
Mental and neurological abnormalities

Question 3

What helps prevent mental/neuro abnormalities in abetalipoproteinaemia?

Answer 3

Vitamin E injections

Question 4

What is Peutz-Jegher’s syndrome?

Answer 4

Genetic condition with mucocutaneous pigmentation and GI polyps

Question 5

How does Peutz-Jegher’s syndrome present?

Answer 5

Brown buccal pigment

Hamartomas polyps anywhere in the GI tract (can bleed/cause obstruction or intussusception

Question 6

Treatment of PJS?

Answer 6

Endoscopic polypectomy (balloon endoscopy necessary)
Bowel resection (not ideal, try to avoid)
Yearly pan-endoscopy
Increased incidence of GI cancers
Increased risk of other cancers

Question 7

When would bowel resection be necessary to treat PJS?

Answer 7

If patient presents with gangrenous bowel because of intussusception