Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema


This discovery should not be understood as a harbinger of an “atavistic” sense of “redemption” on the part of many women, including young ones, who until now have been unjustly “accused” by “public opinion” and, unfortunately, also by doctors and other health professionals, of “bulimia” (which according to many is the cause of their physical condition); women in whom the diagnosis was often made after years of wandering, when (as still happens today) not confused with other diseases (first of all Lymphedema), with expenditure of physical, mental and economic energies; women who were offered therapeutic protocols, mostly useless (although very expensive) precisely because the nature of the disease was not recognized.

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We had been working on this (all over the world) for decades, simply starting from the consideration that the disease affected only women (cases in men are very rare!), manifested mainly at puberty and affecting several generations of the same family. From some family pedigrees we had also understood the fact that in several cases the man (always healthy) transmitted the disease genetically being some women, among his ancestors, affected by the problem.

Today the research gives reason to us and not to those who believed that the problem was ‘self-determined’ by the patients with their eating behaviors and lifestyles conducted. In these subjects who, in some cases, are even improperly referred to bariatric surgery (often with further physical and mental damage), it is the ‘genetic predisposition’ that determines the manifestation of the disease. And the proof of this is that many patients, observing very strict diets, drop a lot of weight at the abdominal and thoracic level but remain almost unchanged at the level of the lower limbs (and sometimes even upper) affected.

It is a first step: a first identified gene, which will be followed by discoveries of other causal genes (as has happened and continues to happen for primary lymphedema, a completely different pathology from this one for genesis and for clinical manifestations and therapeutic treatment). And on this road we will perhaps, with time, be able to pursue studies and research on possible targeted therapeutic approaches that will be able to correct, at least in part, the problem.

I must certainly share this moment with my geneticist colleagues, coordinated by my friend Matteo Bertelli, with Pietro Chiurazzi, with Daniele Dell’Orco and Valerio Marini, with Karen Herbst who, like us, has been interested for years with passion and commitment to the problem which is very widespread in her country, the United States.

We will have the opportunity to talk about it again, but in the meantime, let’s enjoy this ‘magical’ moment that has been awaited for years by the international scientific community and, above all, by the many patients who from today will face their diagnostic and therapeutic path with more confidence in themselves and in their future, at least this is what we hope and we wish it especially to them.

Rome August 29, 2020

Dr. Sandro Michelini

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