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Question 1

What are the features of coeliac disease?

Answer 1

Villous atrophy and crypt hyperplasia with mononuclear infiltrate in the lamina propria.
Dermatitis herpetiformis (painful and itchy rash)
The most common extraintestinal manifestation of coeliac disease is iron-deficiency anemia unresponsive to iron therapy.

Question 2

What is the risk for coeliac disease?

Answer 2

Population risk 1-2%
First degree relative 10%
Down's syndrome 15%
Turners, Williams, autoimmune thyroid disease.
IgA deficiency

Question 3

How can you tell what is the cause of a diarrhoea?

Answer 3

Osmotic gap 290-([Na]+[K])
Osmotic diarrhoea >50. Occurs with bacterial overgrowth, impaired absorptive states (coeliac disease, exocrine pancreatic insufficiency, short gut) and a pH <5 suggests disaccharidase deficiency.

Secretary diarrhoea continues despite fasting. Causes include E Coli, cholera, gut hormone tumours and autoimmune enteropathy

Question 4

Diagnosing eosinophilic oesophagitis

Answer 4

Atopy occurs in >80%
Peripheral eosinophilia 50%
Biopsy >20 cells/hpf
Symptoms: vomiting, heartburn, abdo pain, dysphagia, food impaction, FTT
Often fails to respond to PPI

Question 5

Describe the most common form of oesophageal atresia

Answer 5

> 90% have an associated tracheoesophageal fistula.

In the most common form which accounts for at least 65% of cases of oesophageal atresia, the upper oesophagus ends in a blind pouch and the TEF is connected to the distal oesophagus.

Question 6

Peutz-Jeghers syndrome

Answer 6

Autosomal dominant (STK11) development of hamartomatous GI polyps and hyperpigmented melanosis of lips and mucosa. Often present with intussusception in older children with obstruction.

Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly associated tumors.