A chronic condition that causes excessive fat to accumulate in the hips and legs and increases the likelihood of associated health problems will be examined by researchers to find out what genetic defects cause it.
Experts at St George’s Hospital in London and St George’s, University of London will explore the genetic basis of the condition, called lipoedema, which occurs almost exclusively in women.
To date no genes have been discovered which cause lipoedema, but the research will involve a whole genome analysis for patients with a family history and a genome wide association study of sporadic cases.
Dr Kristiana Gordon, Lymphovascular consultant at St George’s Hospital and the chief investigator for the study, said the team hopes to find the cause of lipoedema.
“This should lead us to screen present and future generations of affected families in a more efficient way,” she said.
“Genetic counselling can be useful as those who are not carrying the gene defect that causes the disease can be reassured, and those who are carrying it, can be studied at regular intervals to detect and treat the first appearance of swelling. This should lead to better control of the symptoms than was possible in the past.”
Funding for the research is being provided by the Lipedema Foundation, a US not-for-profit organisation.
Felicitie Daftuar, the Founder and Executive Director of the Lipedema Foundation, said to overcome the war on the chronic condition, the first major hurdle is to find a test that can diagnose lipoedema.
“Once we have a genetic marker that can diagnose the condition, we will open the floodgates for both awareness and treatment,” she said.
Dr Pia Ostergaard, genetics researcher at St George’s, University of London and the research leader on the project, said the study aims to open up the first piece in a large puzzle surrounding the disease.
“We hope that by discovering the underlying genetic defect(s) causing lipoedema, we can use this new knowledge to get a better understanding of the mechanism of disease, which in turn will help us find a more specific treatment,” she said.
“At present we simply treat the swelling not the underlying cause, but moving from gene discovery to treatment is a long process and can take many years”.
The Lipedema Foundation is also sponsoring the first-ever centre for the treatment of adipose disorders at the University of Arizona and other fellowships as well.