AS a GP and a person with coeliac disease, I can see both sides of the challenges in detecting one of Australia’s most underdiagnosed conditions.
Coeliac disease typically has a low profile in general practice. Symptoms mimic many other conditions, plus there is no drug therapy so there is little ongoing discussion over best practice in treatment.
When a patient presents with symptoms of bloating, gastrointestinal complaints and fatigue, coeliac disease is often near the bottom of the list of conditions a GP might consider.
In my case, I was unwell for a long time before being diagnosed. It was often difficult to pinpoint the problem; I spent a lot of time operating below my peak and felt I couldn’t seek out a more high-powered professional role because I couldn’t rely on my health.
My symptoms included headaches, which were often put down to stress, and I was also advised to try physiotherapy.
Like many patients with the condition, I visited my GP many times, took time off work, or rearranged parenting responsibilities. Many times I did not seek medical help because, although I felt unwell, I did not consider my symptoms severe enough to go to the doctor.
This is why it is so important that GPs have coeliac disease higher on their radar for differential diagnosis. Symptoms may come and go for coeliac patients and can range in severity. When patients reach the GP surgery it is critical to make the most of their visit with a thorough consideration of symptoms, family history and comorbidities such as autoimmune thyroid conditions and type 1 diabetes.
Awareness of all the possible symptoms, which include gastrointestinal symptoms — from diarrhoea to constipation — as well as anaemia and fatigue, is also crucial.
If patients present having already gone gluten free without a confirmed diagnosis, asking them to go on a 6-week “gluten challenge” to allow for accurate testing can be tricky but is essential to establish whether coeliac disease is truly the problem.
After my diagnosis I discovered that my son also has coeliac disease and I was embarrassed. Not only do I have the condition myself but I’m a doctor and, perhaps more importantly, I’m his mum. Shouldn’t I have spotted it sooner, particularly given the genetic link?
This again highlights how important it is for GPs to have coeliac disease on their radar. In most cases serology can quickly rule it in or out as a possibility and allow for faster diagnosis or other investigations.
My son’s story is not unusual for someone with coeliac disease — he was unwell for at least 12 months prior to diagnosis. At 14, he didn’t want the label of a chronic condition or to give up his meat pies, sausage rolls and pizza. He didn’t want to be different then and he still doesn’t like to be seen as different now, even though he has become more diligent than me at checking food labels.
Although my son and I will both be eating gluten free for the rest of our lives, we are lucky to have a confirmed diagnosis; Coeliac Australia says that of the one in 70 people in Australia with the disease, four out of five are undiagnosed.
A diagnosis of coeliac disease can only be confirmed by a small intestine biopsy. Confirmed diagnosis is important not only for patients who will need to make dietary changes, but also because of the other elements of ongoing care such as monitoring for related conditions.
The Coeliac Australia Medical Advisory Committee has designed a Chronic Disease Management (CDM) template, incorporating GP management plan and team care arrangement documents. These can be used with several medical practice software programs to facilitate the best care for patients.
The CDM template gives an indication of the “gold standard” of care for coeliac patients and GPs can modify the plan to suit individual patients.
Effective care can only begin once a diagnosis is made so vigilance is the first step.
Dr Susan Hookey is the director of General Practice Liaison at Melbourne Health and a practising GP.