Vulvodynia, the first genetic test that can predict the risk of developing the pathology arrives in Italy

Long considered an “invisible pathology”, the vulvodynia represents an often disabling gynecological disease, which compromises the personal and emotional life of many women. Now a new genetic test is able to identify the predisposition to develop the pathology and also to identify the disorder early, if already present.

How the new test works

The new So Real^ORrecently available in Italy thanks to the Innovation Hub of Genomics, Genetics and Biology (GGB Hub) – based in Siena at the bio-incubator Tuscany Life Sciences – It helps to anticipate a suspected diagnosis of vulvodynia and to direct the most appropriate therapeutic approach, allowing to improve the quality of life of women who suffer from it.

The new genetic testwhich will be performed with the support of experts in disease management, evaluates the predisposition to altered levels of molecules involved in pain sensitivity, a predominant symptom in vulvodynia. So Realin fact, contains within itself the term Sister which, in English, means «irritation”and the term Real“, or “real”. United in a play on words, they also recall So Real«so true», considering the great difficulty women have in making themselves understood when they report this disorder, with consequent delays in terms of diagnosis and treatment.

To develop this important predictive tool, the Polo GGB – in collaboration with the Professor Filippo Murinagynecologist, Head of Department at theV. Buzzi Hospital – La Statale University of Milan – led one study on a group of 60 womenbetween cases and controls, with a certain diagnosis of vulvodynia. The study conducted showed a significant difference between cases and controls, in relation to the genetic predisposition towards altered levels of one of the progesterone receptors (PGRM1)from literature already previously related to pain sensitivity.

In parallel, it was possible to characterize and stratify the affected patients, making it possible to direct the therapeutic treatment. In particular, significant correlations emerged between the predisposition to altered levels of a second component of the progesterone receptor (PGRM2), total testosterone, estrogen receptor, prolactin and mineralocorticoids, in addition to clinical evidence, such as the thickness of the vestibular mucosa and/or sensitivity to acute and/or prolonged pain.

What does it mean to suffer from vulvodynia?

There vulvodynia It is a complex and multifactorial syndrome, which hits up to the 18% of women over the course of life. It is estimated that in Italy, without considering the hidden data, 15% of the female population may currently suffer from vulvodynia.with an incidence on a wide age range between 14 and 68 years. Characterised by chronic genital pain, vaginal burning, frequent inflammation and dyspareuniai.e. pain during sexual intercourse, Vulvodynia has a heavy impact on the daily life and sexuality of those who suffer from itaggravated by the fact that the pathology is often diagnosed late.

“Vulvodynia is a devastating disease for a woman’s daily life and intimacy; it is possible to treat it today, using the numerous approaches at our disposal, but it is essential to characterise it well, to build a personalised treatment path”, explains Professor Filippo MurinaHead of the Lower Genital Tract Pathology Service at the V. Buzzi Hospital – “La Statale” University of Milan and Scientific Director of the Italian Vulvodynia Association Onlus. «Having identified a genetic predisposition that allows us to refine our therapeutic weapons is a great step forward for patients. The research of my group, in strong synergy with the Polo GGB, has made it possible to develop a new diagnostic tool of great utility, laying the foundations for further future developments».