Coeliac disease is the name of the genetic condition which causes a person’s immune system to react abnormally to gluten, causing small bowel damage. If left undiagnosed, it can have serious and far-reaching consequences.

Coeliac Australia estimate that 1 in 70 Australians have the disease – significant, but a far cry from the huge numbers of people going gluten free.

Dr David Clift, a pathologist from Geelong specialising in gastrointestinal conditions, warns that people who decide they need to go gluten-free but do not seek medical advice or proper testing could be risking their health, in some cases with cancer;

“Poorly managed Coeliac Disease can lead to a variety of issues including osteoporosis or certain cancers. 1 in 20 people with Coeliac Disease who routinely consume gluten (sometimes unknowingly) will develop a form of lymphoma with a poor prognosis. It amazes me that so many are willing to ‘wing it’ with such a serious condition.”

The symptoms of coeliac disease can be similar to other gut conditions so it’s important to know that you’re getting the correct treatment. And gluten can be present in unexpected foods like processed meats, marinades and spices, so medical support is vital to help people with the disease adhere to the strict diet.

A study published by Monash University Professor Peter Gibson in 2011 proposed the existence of ‘gluten sensitivity’ – a ‘coeliac lite’ version causing symptoms in people without Coeliac Disease. This was seized upon by the burgeoning wellness market but in 2015 Gibson followed up his findings with two much larger studies that disproved gluten sensitivity existed. Dr Clift adds;

“There is more speculation than evidence about diet on the internet. Some people attribute an improvement in digestive symptoms to a gluten-free diet. But by cutting out gluten, you are reducing processed foods and additives that may be the real cause of gut pain.

Coeliac disease is not a sliding scale – you either have it or you don’t and it is a shame this myth persists. The only way to know for sure is to get tested.”

But is there a problem with going gluten free if you don’t have coeliac disease?

Well your bank account might think so. On average a gluten-free diet for a family of four will be 17% more expensive than a routine diet.¹

Not to mention, unnecessarily restricting your diet may have negative effects on your health.

Removing grains from the diet can reduce intake of vital nutrients. In children this may interfere with growth. And if you don’t have symptoms, there is no evidence that a gluten-free diet will provide you with any health benefits. Coeliac Australia estimate that 80% of Australians with coeliac disease are currently living undiagnosed. Their advice? If you have symptoms, get tested.

1. Lambert et al “Cost and affordability of a nutritionally balanced gluten-free diet: Is following a gluten-free diet affordable?” Nutrition and Dietetics Feb 2016

The post If you’re eating gluten-free and have not had this test, we need to talk. first appeared on Know Pathology Know Healthcare.

Many people with coeliac disease know that getting a confirmed diagnosis can be a long process, so how exactly is this done, and who is responsible for getting the test results?

18^th November 2015 is International Pathology Day so why not sign up and tell us your coeliac disease diagnosis story via the comment box on our homepage

When a doctor suspects coeliac disease, the first pathology test that is usually ordered is coeliac serology. Serology testing looks for the presence of specific antibodies in a person’s blood. Antibodies are normally the ‘good guys’ – they attack infections. In autoimmune conditions like coeliac disease, autoantibodies form, which mistakenly attack the body’s own organs. The coeliac serology tests look for these autoantibodies which attack the small bowel (small intestine) as part of an abnormal reaction to gluten.

The autoantibodies are found in serum – the watery component of blood in which red and white blood cells float as they pass through the body. To obtain serum for testing, the blood tube is sent to the pathology laboratory where it is spun in a centrifuge at 3000 revolutions per minutes. That’s two to three times faster than your washing machine on fastest spin.  Doing this separates the yellow serum from the heavier red blood cells, which sink to the bottom of the tube.

Once the tube of blood has been spun it is loaded onto a machine where a pipette takes a few drops of the serum and adds them to reaction chambers (small plastic or glass disposable vials) containing various chemicals. Each reaction chamber will produce a specific reaction if the blood contains the autoantibodies that the test is looking for.

This process is overseen by a highly trained medical scientist who will interpret the results from the machine before they are delivered to the patient’s doctor.

MP Bruce Billson, who has been diagnosed with coeliac disease, visited a pathology laboratory earlier this year and showed his support for the Know Pathology Know Healthcare campaign

Positive serology results show the person’s body is producing an inappropriate immune response, but for a confirmed diagnosis of coeliac disease, a biopsy is needed.

The patient is given a light anaesthetic and a small sample of tissue is collected from the lining of the small bowel. The tissue sample is typically only around 3mm in diameter.

The specimen is put into tissue fixative substance, usually formalin and sent to the pathology laboratory.

A pathologist or medical scientist then performs what’s known as a gross examination – this means looking at the sample without a microscope. This is done to record what can be seen by simply looking at, measuring, or feeling the tissue, for example its size, colour and consistency.

The sample is then processed and placed in hot paraffin wax, which sets as a solid block with the tissue within it.

Next, a microtome instrument is used to cut the block into very thin slices. The slices need to be thin enough to let light through in order for cells to be seen under a microscope. Slices are placed on glass slides, which are dipped into different stains or dyes that change the colour of the tissue to make cells more visible under a microscope.

The pathologist then examines the slides, looking for changes consistent with coeliac disease. When viewed under a microscope, healthy bowel tissue features small ‘finger-like’ projections called villi. These are typically shortened in coeliac patients. The pathologist looks for the extent of any shortening and for the depths of the ‘crypts’ (the indents between villi) to see if these have changed.

The pathologist will also look for the presence of lymphocytes, a type of white blood cell, in the upper layer of the tissue and for increased inflammatory cells.

Once the review is complete, the pathologist prepares a report containing their findings for the patient’s doctor. It is important that the doctor has the information from both the blood test and the biopsy combined with the patient’s history in order to make a confident diagnosis of coeliac disease.

Pathology is clearly vital for people with coeliac disease. Tell us your coeliac disease story and why you value pathology, by signing up here www.knowpathology.com.au

The post Analyse this: so what exactly goes into diagnosing coeliac disease? first appeared on Know Pathology Know Healthcare.

“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

The post Pathology confirms the cause of Erin’s ‘unexplained’ anaemia first appeared on Know Pathology Know Healthcare.