You’re at work in your clinic, and this pale and thin-looking boy wanders in with a half-eaten loaf of bread in his hand. He pulls down his trousers and does the single worst smelling poo all over the floor. It’s pale and very oily, and just as he’s finished his legs give way and he falls over, landing right in it. Unfortunately he lands on his front, right on top of his bread, making his tummy hurt.

  • caucasian
  • failure to grow
  • foul smelling faeces
  • steatorrhoea
  • muscle wasting
  • abdominal pain

As he attempts to get back up, he continues to slip and slide, gliding around the room like an ice rink. After a little while he gets tired, and you’re worried because you start to see some blood on your new poo-ice-rink floor, and you think he may have broken his arm in the process of trying to stand up.

  • gliadin protein sensitivity
  • fatigue
  • anaemia
  • osteoporosis/osteopenia 

To try and cheer him up a little, you hand him some toys from Star Wars, and after deb8-ing for a little while he chooses a plastic R2-D(Q)2. While he’s playing you notice a nasty rash over his legs, and so you ask him what his name is in order to call his parents. He says his name is Marsh and his parents can’t come to help him because his mother is pregnant.

  • HLA-B8
  • HLA-DQ2
  • Dermatitis herpetiformis
  • Marsh classification
  • pregnancy complications

Finally you ask why he’s come in today, and he says he thinks his spleen is too small, and he’s broken his toy dIgA (digger).

  • Hyposplenism
  • IgA deficiency

Hopefully this particularly ridiculous scenario will help link some of the features and associations of coeliac disease in your mind. Feel free to change what you will, and the details are summarised below.

The Background

Coeliac disease is a condition in which the small intestine undergoes villous atrophy as the result of a T cell mediated autoimmune sensitivity response to gliadin and other gluten proteins found in wheat. These proteins set off an inflammatory cascade that causes the villi of the intestine to be burned away, reducing the ability of the intestine to absorb the necessary nutrients, and the characteristic features of foul-smelling diarrhoea and failure to gain weight result.

Symptoms

  • Those related to the villous atrophy
    • pale, loose, fatty stools that smell foul
    • abdominal pain and cramping
      • sometimes with distension, though to be due to fermentation in the gut
  • Those related to the malabsorption
    • weight loss
    • fatigue
    • anaemia
      • iron deficiency
      • B12 deficiency
      • Folate deficiency
    • Calcium and vitamin D deficiency
      • osteoporosis
      • osteopenia
    • Rarely – coagulopathy
      • vitamin K deficiency

Genetics

  • Incidence 1/1000-2000
  • very common in caucasians, rare in black/asian populations
  • HLA-DQ2 (95%)
  • HLA-B8 (80%)

Diagnosis

  • History
  • Examination
  • Jejunal biopsy
  • Antibody tests are useful for screening
    • anti-endomysial 
    • anti-gliadin

Pathology

The pathology of coeliac disease is categorised by the Marsh Classification.

  • Marsh stage 0
    • normal mucosa
  • Marsh stage 1
    • Increased number of intra-epithelial lymphocytes (IEL)
  • Marsh stage 2
    • proliferation of the crypts of Lieberkuhn
  • Marsh stage 3
    • partial or complete villous atrophy and crypt hypertrophy
  • Marsh stage 4
    • hypoplasia of the small intestine architecture

Associations

Coeliac disease is linked with a number of other conditions, although it is not clear as to the causal nature of the relationship.

  • IgA deficiency
  • Dermatitis Herpetiformis
  • Growth failure
  • Pregnancy complications
  • Hyposplenism
  • Abnormal liver function tests

Risks

Coeliac disease confers greater risk of:

  • adenocarcinoma
  • lymphoma
    • enteropathy-associated T cell Lymphoma (EATL)
  • ulcerative jejunitis
  • stricturing

Treatment

At the moment, the only known successful therapy for coeliac disease is a gluten-free diet for the rest of the individual’s life.

but…cake

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s