Barwon Health research discover rare disease breakthrough

A NEW method of diagnosis for a rare disease has been discovered at a Barwon Health laboratory.

Barwon Health’s Australian Rickettsial Reference Laboratory (ARRL) has uncovered a simpler method to diagnose Whipple’s disease without invasive, expensive and painful procedures for patients.

Whipple’s disease is a rare disease, caused by Tropheryma whippeli bacteria.

Once contracted, the disease can have a devastating effect, with symptoms ranging from chronic diarrhoea to severe joint pain, to endocarditis, to neurological abnormalities, and even death.

Professor Stephen Graves, Medical Director of the ARRL located at Barwon Health, said he decides to flip conventional diagnostic methods to help diagnose the disease quicker.

He did this by testing the lack of antibodies in a susceptible person’s blood, rather than the presence of the antibodies and said the results were striking.

“Blood taken from people with Whipple’s Disease had significantly lower IgG antibody levels than blood taken from people without Whipple’s disease,” Professor Graves said.

“This novel finding means that if someone has symptoms that suggest possible Whipple’s disease, a simple blood test may now be used to exclude the disease, instead of a biopsy, and could be used as the first step towards the diagnosis.

“If their antibodies are found to be high, they are actually unlikely to have Whipple’s disease and would not need to undergo a biopsy.

“If their antibody levels are low, they may have the genetic mutation and therefore are a possible Whipple’s disease case and may need a biopsy to confirm or refute the diagnosis.”

Professor Graves and his colleague Dr Kwee Chin Liew’s team investigated the novel hypothesis and developed a simple diagnostic test.

For three years, the team compared blood samples from Whipple’s disease patients in Australia with blood samples from healthy people.

Dr Liew and Professor Graves have published their findings in the Australian peer-reviewed journal Pathology.

The test is currently available at the ARRL at Barwon Health and will continue to be validated to ensure that it is indeed a useful method of diagnosing Whipple’s disease.

Professor Graves and Dr Liew and their colleagues are now continuing their hard work towards fighting other rare and serious diseases including Q fever and rickettsial infections.