I’d like to tell you about a study conducted by a group of researchers in Italy that analyzed the genetic profile of three women with lipedema in one family and how it is a helpful step that could further lead to earlier lipedema diagnosis and intervention.
Their article was published in the International Journal of Molecular Sciences in August 2020. It’s entitled Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema. The lead author is Sandro Michelini. They believe they have come up with the first genetic basis for lipedema and explored whether lipedema could be caused by a genetic component.
Why study genes?
Other research already identified 11 genes for syndromic lipedema, but none have been identified for non-syndromic lipedema. Just as an aside: “non-syndromic” means that not all of the usual clinical features are present that are typically associated with lipedema.
None of the three women in this paper presented with pain which is often a feature of lipedema. Another reason that genes are suspected in the etiology of lipedema is that it has been shown that 64% of women with lipedema have a family history of lower body fat deposition, which shows a strong likelihood of a genetic component.
Who are the study participants?
The three women described in this paper were a 54-year-old woman, her 68-year-old sister, and her 25-year-old daughter. The 54-year-old was the heaviest of the three with a BMI of 29 and is classified as overweight. The other two are considered normal weight for their height.
The older two women are both stage 2 lipedema, type 2 (presentation in thighs and buttocks), while the younger woman is stage 1, type 2 with just her thighs involved. All three women experienced an onset of their lipedema at puberty. The older women had more comorbidities including high blood pressure, anxiety, and thyroid problems. They all presented with decreased functioning of the AKR1C1 gene.
What is the significance of AKR1C1?
Decreased functioning of AKR1C1 may be responsible for the symmetrical deposition of lower body fat seen in lipedema by two pathways: by both failing to inhibit fat production while simultaneously encouraging fat production. These actions may happen because when this gene is not functioning optimally, the body has a reduced ability to change progesterone into its inactive form, and progesterone influences these two actions. This gene also acts in a way that decreases pain and all three women did not experience pain with their lipedema.
Takeaways
The bottom line is that when we can identify genes that are linked to lipedema, this can be used for diagnostic purposes. This may lead to earlier diagnosis, earlier intervention with better outcomes, and possible prevention of progression to later stages of lipedema. So it’s important that more research is done exploring the possibility of lipedema being caused by a genetic component.
For more related content, be sure to check out Lipedema Simplified’s Flash Briefings, our daily mini-podcast with tips, tools, helpful research, and other resources pertaining to lipedema.
~ Leslyn Keith, OTD, CLT-LANA
Board President, Director of Research | The Lipedema Project