First genetic tests for weighty issue

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Lipoedema is a painful fat condition that affects more than one in 10 mainly women in Australia. Funded by a $615,000, three-year grant from the US Lipedema Foundation, 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. The researchers are calling for volunteers to take part in a new study to fathom any genetic connections with the condition.

Organisation/s: Flinders University

Funder: US Lipedema Foundation

Media Release

From: Flinders University

Lipoedema is a painful fat condition that affects more than one in 10 mainly women in Australia.

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.

“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.

“Lipoedema 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.

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