Syndromes associated with GI Pathology

Question 1

Peutz-Jeghers Syndrome

Answer 1

• autosomal dominant condition characterised by numerous Haemartomatous polyps in GI tract
  Also assoc with pigmented freckles on lips face, palms and soles
  Around 50% of patients will have died from GI tract cancer by age 60

Genetics:

• autosomal dominant
• responsible gene encodes serine threonine kinase LKB1 or STK11

Features:

• Haemarthromatous polyps in GI tract (mainly Sm bowel)
• Pigmented lesions on lips, oral mucosa, face, palms, soles
• Intestinal obstruction eg Intussusception
• GI Bleeding

Mx:
- Conservative unless Cx develop

Question 2

Plummer-Vinson Syndrome

Answer 2

Plummer-Vinson syndrome
Triad of:
dysphagia and odonyphagia (secondary to oesophageal webs)
glossitis
iron-deficiency anaemia (cheilosis/angular stomatitis)

Occurs in post menopausal women
Increased risk of squamous cell Ca of oesophagus and pharynx

Treatment includes iron supplementation and dilation of the webs

Question 3

Dubin-Johnson Syndrome

Answer 3

= Benign autosomal recessive disorder resulting in Hyperbilirubinaemia (conjugated and present in urine)

Due to a defect in the canillicular multi specific organic anion transporter (cMOAT) protein
> Defective hepatic bilirubin excretion

Question 4

Zollinger Ellison Syndrome

Answer 4

= Condition characterised by excessive levels of Gastrin, usually from a gastrin-secreting tumour usually of duodenum or pancreas

NB Around 30% occur as part of MEN type 1 syndrome

Fx:
- multiple gastroduodenal ulcers
> causes abdo pain + diarrhoea + malabsorption

Diagnosis:

• Fasting gastrin levels = single best screen test
• Secretin stimulation test

Mx:
- High dose PPIs to control Sx