First genetic testing for weighty issue

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  Last updated November 19, 2018 at 4:08 pm

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Volunteers from South Australia wanted for international study into the genetics of lipoedema.



In a world first, South Australian researchers are joining a global project to determine whether this common health issue is linked to genetics, or a person’s appearance or phenotype related to their genotype.


Funded by a $615,000, three-year grant from the US Lipedema Foundation, the researchers are calling for volunteers to take part in a new study to fathom any genetic connections with the condition.


Professor Neil Piller, right, and the Flinders research group regularly conduct assessment and advisory clinics in Adelaide and around regional centres in South Australia


“With as many as 15 per cent of Australian women likely to have it, lipoedema is undiagnosed and misunderstood,” says Flinders Professor Neil Piller, an international expert in lymphology.


“Lipoedema is often misdiagnosed as simply being obesity, although lipoedema and obesity can co-exist.


“It can have a significant impact on a patient’s physical and mental health and wellbeing, so we are looking for ways to help diagnose and treat the condition.”


The chronic condition leads to an abnormal accumulation of fat cells in the legs, thighs, buttocks and even arms, almost exclusively in women but occasionally in men – and in people with a family history.


Excessive adipose tissue enlargement – which characterises lipoedema – can lead to pain, mobility and circulation issues, psycho-social and other health problems.


“We are interested in understanding the genetic makeup of lipoedema in adult women in South Australia,” says Professor Piller, adding participants need to have a diagnosis or assessment of lipoedema.


“One of the benefits will be that participants will get some support for their condition and advice on future management strategies.”


Volunteers will take part in a preliminary assessment at the Flinders Centre for Innovation in Cancer, next to Flinders Medical Centre at Bedford Park.


The multidisciplinary SA team led by Professor Piller includes Associate Professor Natasha Harvey of the Lymphatic Development Laboratory at SA Pathology’s Centre for Cancer Biology, Professor Eric Haan from the Adult Genetics Unit at SA Clinical Genetics Service, UniSA Professor Hamish Scott, Department of Genetics and Molecular Pathology and Centre for Cancer Biology, and other staff at Flinders University such as Ms Michelle Parsons and Ms Marielle Esplin.


Participants will be invited to take part in a blood test and optional fat tissue biopsy from the leg, if a genetic cause if found.


Contact the research team by emailing Professor Piller, lymphologist and director of the Flinders Lymphoedema Clinical Research Unit at neil.piller@flinders.edu.au or michelle.parsons@flinders.edu.au




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