Dr Erin Murphy, an emergency registrar based in Bendigo, knows professionally and personally the importance of pathology in diagnosing and treating patients. Erin has coeliac disease, a condition where the body produces an inappropriate immune reaction to gluten which causes inflammation and damage to the small intestine.
“I knew I was anaemic as I had tried to give blood and been told that my haemoglobin was too low,” explains Erin. “Throughout my undergraduate degree I took iron supplements and was still seeing the doctor with anaemia. Eventually in 2006, I saw a GP who started to ask why I was anaemic, there didn’t seem to be a cause. This led to investigations and I was diagnosed with coeliac disease.”
Pathology was particularly important in Erin’s diagnosis; like many people with coeliac disease, Erin didn’t recognise her gastrointestinal issues as being particularly unusual.
“At the time, I didn’t connect my other symptoms – they weren’t prominent and consistent. I would not have noted these symptoms when discussing history as I didn’t think they were abnormal. I took these for granted, thought ‘everyone has this sometimes’, assumed it was something I ate.”
As pathology had picked up Erin’s anaemia, which is common in people with coeliac disease, her GP was able to see that the problem was ongoing, was not responding well to Erin taking supplements and did not appear to have an obvious cause. This meant further investigation was necessary to try and find out why Erin’s body was struggling to maintain good iron levels.
Anaemia is common in people with coeliac disease because while the person continues to eat gluten, the small intestine gets damaged and this can inhibit the absorption of nutrients. Research is also being conducted into whether nutritional deficiencies may contribute to the onset of coeliac disease.
Once Erin was diagnosed with the condition, she encouraged her mum to get tested too, “I was studying immunology at the time, so I understood the genetic connection.”
First degree relatives of people with coeliac disease have a 1 in 10 chance of also testing positive. Pathology testing known as HLA typing can screen relatives to check if they are at risk of coeliac disease, diagnosis is then made via a small intestine biopsy. Erin’s mum Shelley also has osteoporosis which is a condition associated with coeliac disease, so Erin suspected her mum might also be coeliac and advised her to visit her GP.
Erin’s health has improved vastly since diagnosis as she now eats a strict gluten free diet. As well as her mum, Erin’s aunt and cousin also have coeliac disease.
“Pathology has been crucial throughout the diagnostic process for me and for other family members, and as a doctor myself, I feel it is an essential part of medicine.”
Coeliac Awareness Week runs from 13th – 20th March, it is an initiative of Coeliac Australia which aims to raise awareness of coeliac disease amongst the general public and health professionals. For more information about coeliac disease including symptoms, related conditions and testing go to coeliac.org.au