Congenital Insensitivity to Pain with Anhidrosis (CIPA)

Feeling is a basic innate response to outside stimuli. It allows for any organism or human to respond to a potentially dangerous situation. Basic responses such as shivering and sweating help keep the body at its optimal temperature so that basic cellular functions can progress properly. Normally nerves transmit signals between the brain and the body to allow for communication and sensory of the outside world as well as internal ques. A vast wiring of peripheral and autonomic nerves, along with the spinal cord and brain, communicate in split second reactions. These split second reactions that control heart rate, fight/flight, body temperature, as well as other reactions we take for granted A network of highly sensitive nerve endings has evolved throughout the body so that we can sense danger and respond in a timely manner. Very basic functions such as irritation to the eye and discomfort to the joints can easily be noticed and fixed because of nerves. For a very small percentage of the population though this is not the case. Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare disease that causes the infected to have no reaction to pain and in most cases, lose sense of smell as well.

Congenital Analgesia is a rare condition that prevents people from experiencing senses due to a mutation on the NTRK1 gene is located on the long (q) arm of chromosome 1 between position 21 and position 22 {1}. It is inherited in an autosomal recessive pattern which means that the infected must get the allele from both parents. Someone with only one allele of CIPA is a carrier but does not exhibit signs of the disease.

Mutations in the NTRK1 gene cause a protein not to be activated by phosphorylation (2). Without the protein functio...

... middle of paper ...

... She had frequent high fevers but never showed any signs of sweating or pain throughout the episodes. She was then recorded as self-mutilating body parts and biting off the tips of fingers and tongue (9).

Currently, there is no treatment for Congenital Insensitivity to Pain with Anhidrosis. A person with this condition must constantly manage injuries and infections in order to live a healthy life. Because of this, the infected rarely live past the age of 30 because of the physical toll the body takes on a daily basis (1). Luckily it is a very rare condition and less than 100 cases have been documented in scientific literature (1). Those who are infected with CIPA must take extra precaution but can lead a semi-normal life with the adequate protection. It is still rare at this time that patients will live a normal length life due to multiple complications.