Scientists have discovered a rare genetic mutation in one Italian family that causes low sensitivity to pain.
Letizia Marsili, 52, and five of her family members – her mother, two sons, sister and niece – all show signs of being affected by congenital analgesia.
Letizia told in an interview: “From day to day we live a very normal life, perhaps better than the rest of the population, because we very rarely get unwell and we hardly feel any pain.”
“However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds.” she added.
According to their findings in a study published in the journal Brain, researchers believe that the condition could be down to some nerves not reacting properly.
Researchers who studied the family is hoping that their discovery could shed light on chronic pain and provide relief for sufferers in the future.
Prof Anna Maria Aloisi from the University of Siena in Italy stated: “We have opened up a whole new route to drug discovery for pain relief,”
Letizia’s mother, two sons, sister and niece all show signs of being affected by the syndrome that is named Marsili pain syndrome.
Marsili told pain was an important alarm signal and because they feel it only fleetingly, the family often have fractures that go undetected and this leads to inflammation in their bones.
Without knowing, they also experience burns and other injuries.
For instance, her 24-year-old son Ludovico has encountered problems during football games.
Marsili said: “He rarely stays on the ground, even when he is knocked down. However, he has fragility at the ankles and he often suffers distortions, which are micro fractures. In fact, recently X-rays have shown that he has lots of micro fractures in both ankles.”
Her younger son Bernardo, 21, had a calcification of the elbow without even realising he had broken it after falling off his bike. He continued to cycle for another nine miles.
Ms Marsili was also similarly unaware when she fractured her right shoulder while skiing.
The same thing happened when she broke a bone in her elbow playing tennis.
“Because of a lack of pain, it got so stressed that it ended up breaking,” she stated.
She also added the worst thing has been problems in her mouth because of a tooth implant that went wrong.
Despite all this, Letizia says she has never seen the condition “as a negative for our lives”.
Lead study author Dr James Cox, from University College London, said the Marsili family members had all their nerves present, but “they’re just not working how they should be”.
He said: “We’re working to gain a better understanding of exactly why they don’t feel much pain, to see if that could help us find new pain relief treatments.”
The research team, whose findings are published in the journal Brain, worked with the family to find out the nature of their phenotype – the observable characteristics caused by their genetics.
The Marsili syndrome, named after them, means the affected individuals are less than normally sensitive (or hyposensitive) to extreme heat, capsaicin in chilli peppers and have experienced pain-free bone fractures.