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ECU part of Australian expertise providing a new approach for common iron overload disorder

The prestigious New England Journal of Medicine has sought the expertise of Professor John Olynyk to update the medical world on all things haemochromatosis.

Professor John Olynyk. Professor John Olynyk.

One of the world's most prestigious journals has sought the expertise of longstanding collaborators, ECU's Professor John Olynyk and QIMR Berghofer Medical Research Institute's Professor Grant Ramm, to update the medical world on haemochromatosis, the most common inherited disorder among people of European descent.

The New England Journal of Medicine tasked Professor Olynyk (School of Medical and Health Sciences Dean of Clinical Studies) and Professor Ramm (QIMR Berghofer Medical Research Institute Deputy Director) to offer an update on the condition, including recent discoveries relating to haemochromatosis diagnosis and treatment to create new global clinical management recommendations for the disease.

Professor Olynyk outlined the recent advances in epidemiology, biochemical and clinical manifestations, and updated the current recommendations for clinical assessment and treatment in healthcare settings.

Professor Olynyk said one in every 190 individuals of European descent in Australia has haemochromatosis, which can cause serious complications in people diagnosed late in life such as disability and premature death.

"One major new development is recognizing haemochromatosis is a cause of death, dementia, frailty, and liver cancer primarily in men afflicted with the disorder," he said.

"However, early diagnosis followed by treatment with regular blood donations to remove excess iron stores results in a normal life expectancy and quality of life.

"Also, invasive approaches were previously considered the "gold standard" for clinical workup of the disease — but now we can use blood tests, simple clinical features and noninvasive scans to profile the severity of the disease."

Haemochromatosis Australia said it welcomed the comprehensive review, which supports the importance of family screening and evaluation of people with 'suggestive biochemical or clinical features' to prevent harm from undetected hemochromatosis.

It said the review highlights the need to inform people with hemochromatosis of the increased risks of liver, colorectal and breast cancer and to advise them on appropriate screening.

The review was published in the New England Journal of Medicine.


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