Coeliac disease continues to be a ‘clinical chameleon’

Anastasia Tsirtsakis

12/03/2020 3:51:25 PM

Coeliac Australia’s new campaign highlights a range of symptoms beyond typical gut issues and encourages at-risk people to visit their GP.

coeliac disease symptoms
There are a number of symptoms linked to coeliac disease that GPs should have on their radar.

Coeliac disease affects approximately one in 70 Australians, making it one of the most common autoimmune diseases. Yet it remains to be one of Australia’s most under-recognised medical conditions, with around 80% of cases undiagnosed.
For Coeliac Awareness Week (13–20 March), Coeliac Australia is helping to inform GPs about the broad range of symptoms with which patients may present beyond typical ‘gut’ issues.
‘GPs play the biggest role in the diagnosis of coeliac disease, as they decide when to test for it,’ Dr Jason Tye-Din, Chair of Coeliac Australia’s Medical Advisory Committee (MAC), told newsGP.
‘So an awareness of its many broad presentations, such as iron deficiency and osteoporosis, and not just abdominal complaints, is crucial.’
Dr Tye-Din suggests GPs consider testing for coeliac disease if a patient presents with any of the following symptoms or signs:

  • Chronic fatigue or lethargy
  • Irritable bowel-type symptoms
  • Other autoimmune diseases, ie thyroid disease or type one diabetes
  • Iron deficiency or anemia
  • Faltering growth, particularly in children
  • Reduced bone density, particularly osteopenia or osteoporosis
  • Infertility or reduced fertility
  • Neurological symptoms
  • Abnormal liver function tests
Family history is another strong reason to screen for the condition. First-degree relatives of someone with coeliac disease are 10% likely to develop it.
‘We certainly have learned a lot on identical twin studies on coeliac, where if you look at one identical twin that has coeliac disease it’s about a 70–75% chance that the other identical twin will develop it. So it’s not 100%,’ Dr Tie-Dyn said.
However, research has indicated that environmental factors are also important in whether the disease manifests.
‘What we now appreciate is that there’s a range of environmental triggers like infections, possibly medications, perhaps the timing of gluten introduction. All of these things may be relevant in unmasking coeliac disease in any one individual. It is possible to develop it later in life as well,’ Dr Tye-Din said.
If left undiagnosed, there are several long-term complications associated with coeliac disease, including nutrient deficiencies, premature osteoporosis, infertility, sepsis and some forms of malignancy, particularly lymphoproliferative disorders such as lymphoma.
If left undetected in young children, it may mean that they miss their growth spurt.
Early diagnosis and treatment is crucial for the best long-term health outcomes.
And the first, most important step is recognising coeliac disease in general practice, according to Dr Tye-Din.
‘Clearly, prevention is better than cure. So if we can detect it early before people have developed a lot of these complications, the likelihood of actually going on to develop complications is reduced and studies have clearly shown reductions in morbidity by early diagnosis and treatment,’ he said.
Meanwhile, another factor the gastroenterologist believes GPs should consider is the fact that patients starting a gluten-free diet before being tested for the disease can lead to a false negative result. 
‘The problem there is that that actually impacts the accuracy of diagnostic tests,’ Dr Tie-Dyn said. ‘That could actually compromise diagnosis rates simply because … the person’s not eating adequate amounts of gluten.
‘So one of those things that we always remind doctors before they test for coeliac disease is to check that the patient is consuming a normal diet.’

Gastroenterologist Dr Jason Tye-Din says ‘GPs play the biggest role in the diagnosis of coeliac disease, as they decide when to test for it’. 

Aside from his role with Coeliac Australia, this is a topic that hits home for Dr Tye-Din.
His wife was diagnosed with coeliac disease almost four years ago after experiencing two miscarriages. Apart from that, he said, she did not have any other ‘typical’ symptoms.
‘A lot of fertility clinics are not yet routinely screening for coeliac, and we’ve certainly picked up a few that way,’ Dr Tye-Din said.  
With GPs seeing patients often complaining about fatigue, Dr Tye-Din says it is not that doctors are not doing a good job.
‘It’s one of these sort of clinical chameleons,’ he said.
‘Testing for coeliac disease is something that just needs to be on their radar because just testing a few here and there won’t necessarily lead to increased diagnoses.’
Coeliac Australia has developed a range of evidence-based resources for GPs to help increase awareness and the diagnosis of coeliac disease in Australia.
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