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Published: 22 November 2022

A group of St George’s researchers has begun to uncover the genetic basis of an often-overlooked condition affecting an unknown number of women around the world.

Lipoedema could affect up to 10% of women but so little is known about the condition that the number of people who live with it hasn’t been determined, and there are no curative treatments.

People with lipoedema – who are usually women – have abnormal amounts of fat tissue deposited under the skin, usually in the legs, causing pain, tenderness and easily-bruised skin. They tend to have a disproportionate body shape, with a much larger lower body than torso, and are reported to have a poorer quality of life than average.

People find it hard to get a diagnosis, and are often misdiagnosed with other conditions such as fibromyalgia, which causes widespread pain throughout the body, or lymphoedema, which is the swelling of body tissues, usually the limbs, due to problems with the lymphatic system.

No one knows how many people the disease affects, with estimates ranging from 10-11% to 1 in 72,000.

“Lipoedema is really poorly understood,” says Dr Kristiana Gordon, Consultant in Dermatology and Lympho-vascular Medicine at St George's Hospital. “There is often a family history of the disease, and we think it is caused by a complex mix of genetics and the environment rather than the simple presence of a defect in a single gene. With funding from the Lipedema Foundation, an American charity, we’ve been able to start the process of unravelling the genetics underlying the disease.”

The study, which was published in PLOS ONE, recruited 200 women with lipoedema through two specialist clinics, one at St George’s University Hospital NHS Trust and one at the University Hospitals of Derby and Burton NHS Trust. The recruitment was advertised widely through the Lipoedema UK patient support group.

All participants were asked to complete a quality-of life-survey. Participants with underwent genotyping, a technique which identifies differences between different people’s DNA. The lipoedema patients’ DNA was compared with women without lipoedema in order to identify any genetic changes specific to people with lipoedema.

Twenty-six genetic changes identified in the women with lipoedema were then validated by analysing the DNA of another set of women with lipoedema available through the Genomics England 100,000 Genomes Project . Using these techniques and further study, the team were able to pinpoint three places in the genome which appear to be associated with lipoedema. These areas are all on the same chromosome and close to a gene that is associated with lipomas, which are benign fatty tumours.

“This was a small study which needs to be replicated with a larger group of people, and we’re a long way from being able to use this information to help patients,” says Prof Ostergaard, Professor of Human Genetics at the St George’s Molecular & Clinical Sciences Research Institute. “But this is the first step to finding out what causes this disease. The more we know about it, the more we can use that knowledge to help diagnosis of this condition, as well as identifying potential treatments in the future.”

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