The risk of developing the symptoms of vulvodinia can be intercepted in a preventive way with a genetic test. In fact, in recent years it has been shown that there is a hereditary component in this disease. “It is not a single gene,” specifies Valentina Pecorari, a urologist specializing in pelvic floor health, vulvodinia and incontinence, “but a multifactorial predisposition, that is, involving numerous gene loci. The gene locus is the location of a gene (or Dna sequence) on a chromosome. Loci are critical for chromosomal mapping and Dna testing. In this case, we are talking about gene loci responsible for key processes: inflammation, peripheral nervous system response, hormone metabolism, stress response, and sexual repair.”
Hereditary vulvodynia: the map of genes involved
Other genes relate to nerve sensitivity, thus the hyperexcitable nerves, which also come into play in other conditions such as fibromyalgia, chronic pelvic pain orirritable bowel syndrome. Still other genes code for estrogen receptor variants, which may respond abnormally to both estrogen and testosterone. Finally, genes that are involved in tissue repair are also involved, with therefore thinner and more fragile matrix especially after insults such as infection, painful intercourse, minor trauma.”
The test that predicts risk
The doctor points out, “The possibility of genetic testing should not be experienced as a condemnation, but as an opportunity, an ‘early warning.’ It alerts us to a woman’s vulnerability, allowing us to prevent the onset of neuropathic pain, which usually comes at the end of a chain of minor traumas or recurrent infections, or it can suggest the use of some hormonal contraceptives over others. It allows us to anticipate the diagnosis, which is often a years-long process for this pathology, and set up a personalized treatment pathway right away.” The test, available in Italy from September 2024, was developed by the GGB (Polo d’Innovazione di Genomica, Genetica e Biologia) of Siena, in collaboration with Filippo Murina, head of the lower genital tract pathology service at Buzzi Hospital in Milan. It makes use of an innovative whole-genome sequencing technique combined with polygenic risk calculation to analyze millions of genetic variants related to pain sensitivity and inflammatory processes. To fine-tune it, a study was conducted on 60 women diagnosed with vulvodinia, which confirmed the presence of a genetic predisposition with regard to especially one of the progesterone receptors (PGRM1), which has been previously correlated with pain sensitivity. Significant correlations also emerged between the predisposition to altered levels of a second component of the progesterone receptor (PGRM2), total testosterone, estrogen receptor, prolactin, and mineralocorticoids, as well as clinical evidence, such as vestibular mucosal thickness and/or sensitivity to acute and/or prolonged pain. The test is simple and painless: it is performed with a simple swab in the mouth, with which saliva is taken to analyze the DNA. It is not only for diagnosis (which remains clinical), but for identification of possible individual genetic predisposition. It is performed with the support of experts in disease management and assesses predisposition to altered levels of molecules involved in pain sensitivity, the predominant symptom in vulvodinia. It is not currently covered by the National Health Service but is available for a fee at the Toscana Life Sciences Foundation laboratory or at some private centers specializing in vulvar pain.