A new study at the University of Arizona seeks to determine the genetic risk factors for developing lipedema, a painful, body disfiguring and debilitating condition characterized by excessive fat deposits causing enlargement of the buttocks, hips and legs and a relatively small waist circumference.

Yann Klimentidis, PhD, assistant professor and genetic epidemiologist at the University of Arizona Mel and Enid Zuckerman College of Public Health, received a $115,000 grant from the Lipedema Foundation to study the genetic risk factors for developing the disease.

Often misdiagnosed as obesity, lipedema affects an estimated 11 percent of women in the United States, according to the National Institutes of Health’s Genetic and Rare Diseases Information Center. The painful fat and swelling in some patients can be so debilitating that their mobility is impaired.

Little is known about how and why lipedema develops. The disease tends to occur during puberty and other periods of hormonal changes. Many patients suffering from lipedema have been told by the medical community they are obese and should simply lose weight. However, no amount of diet, exercise or weight loss surgery can prevent lipedema, nor correct and cure its disproportionate fat deposits.

Additional research is needed to define, diagnose and develop treatments for this disease.

As a genetic epidemiologist, Dr. Klimentidis’ primary research focus is on the genetic basis of obesity and related diseases. He uses genetic information to understand exactly why and how disease occurs. This knowledge can be used to minimize health disparities, individually tailor treatment and prevention approaches and improve prediction of disease risk.

By capitalizing on existing studies, Dr. Klimentidis seeks to identify genetic risk factors for lipedema and follow-up on specific parts of the genome by examining gene expression levels in affected and unaffected fat tissue.

“We suspect many parts of our genome predispose individuals to develop lipedema,” said Dr. Klimentidis. “By identifying the genes that cause lipedema, we can identify the biological pathways and mechanisms that can lead to better treatments, and potentially make predictions of an individual’s risk for lipedema.”