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Sameeksha Chandra Sekar

CIPA Syndrome - "The Painless"



THE PAINLESS

Do you remember the superheroes who fight for the good of mankind, protect people from evil, the one who protects the world from villains, the one who fights despite getting hurt, not caring about the wound, and just fight as if there is no pain. Even the heroes in movies do the same but have you ever wondered how is it possible or how does it feels to have such power to save the world? But do you know there is actually a disease condition that prevents you from feeling physical pain or hurt, in reality, it is not a boom or a superpower.


CIPA - Congenital insensitivity to pain and anhydrosis syndrome is an extremely rare and dangerous condition that one cannot even dream of having. It's not as good as it sounds it is not something that prevents feeling physical pain. It's a nervous system condition that interferes with the signals of pain and temperature. Thus, you can't feel cold or hot temperatures, inability to smell, or even sweat. Even internal pains like stomach pain, knee pain, or any hurt can't be felt. Pain is the primary symptom to identify a problem but the inability to feel pain makes it hard to predict the disease and can't be identified until it worsens and causes any other extreme symptoms like fainting, bleeding, or coughing blood. The worst part of the disease is that it has no cure nor one can survive longer with this disease and it is not just a simple inability to feel pain because even broken bones cause no pain.


GENETIC CONDITION

Congenital insensitivity to pain and anhydrosis is caused by a mutation in the NTRK1 (Neurotrophic Tyrosine-Kinase receptor) or SCN9A gene leading to various HSAN phenotypes. This a genetic disease that is passed from one generation to another in an autosomal recessive trait. It is a kind of peripheral neuropathy that interferes with the nerves carrying messages from the brain or spinal cord or messages carrying to the brain or spinal cord from the body parts. Nociceptors are nerve cells that detects the damaged tissue but in patients with CIPA, these nociceptors are underdeveloped or doesn't respond to pain signal. The mutated NTRK1 halts the autophosphorylation process, thus stopping nociceptors from sending pain signals to the brain. As this is passed in an autosomal recessive trait two copies of the mutated gene have to be passed from the parents to acquire the disease. This condition is noticed in offsprings of consanguineous couples as they are closely related and share the same ancestor, there are more opportunities to get recessive genes from both parents.


IS IT AS GOOD AS IT SOUNDS

It is not as tempting as it sounds because pain is the primary symptom of identifying a health issue but the inability to feel pain makes it hard to identify what problem the patient is having until it worsens to severe. It also cuts the lifespan of the individual to half as the individual is commonly subjected to have infections caused by Staphylococcus aureus, Hyperthermia, Pain insensitivity, loss of smell, inability to react to temperature, and self-injury. As the individual has no sense of pain they unintentionally self-harm themself without even their own awareness like biting the tongue, or inner cheeks. As the pain can't be felt the severity of biting can be worse. Sometimes even dislocation of bones, the burst of appendicitis, heart attack, and internal bleeding will go unnoticed.

CIPA can be recognized in childhood itself by the inability of the baby to feel pain but still, genetic testing is required to prove it. There is no cure for CIPA but monitoring the individual from time to time will help to prevent any emerging illness by monitoring BP, blood sugar, looking out for any injuries, and teaching how to be safe without getting hurt. Recently Naloxone an opioid antagonist is used to treat peripheral neuropathy insensitivity to pain and in certain cases it has shown partial success.


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