Congenital Insensitivity To Pain With Anhidrosis (CIPA) is a rare genetic disorder that affects the ability to feel pain and regulate body temperature. It is hereditary and passed down through families. CIPA is caused by mutations in the TRKA gene. Individuals with CIPA inherit a non-functioning or altered version of this gene from their parents. It is important to consult with a healthcare professional or genetic counselor for more information and guidance regarding the hereditary nature of CIPA.
Congenital Insensitivity To Pain With Anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is a rare genetic disorder that affects the nervous system. It is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected.
Individuals with CIPA are born without the ability to feel pain, temperature, or differentiate between different types of touch. They also have an impaired ability to sweat, leading to anhidrosis. This condition can result in severe injuries and complications as affected individuals are unable to detect or respond to potentially harmful stimuli.
The genetic mutation responsible for CIPA is found in the NTRK1 gene, which provides instructions for making a protein called tropomyosin receptor kinase A (TrkA). TrkA is involved in the development and survival of nerve cells that transmit pain, temperature, and touch sensations. Mutations in the NTRK1 gene disrupt the normal function of TrkA, leading to the symptoms of CIPA.
Since CIPA is a genetic disorder, it can be passed down from parents to their children. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit CIPA. It is important for individuals with a family history of CIPA to undergo genetic counseling and testing to assess the risk of passing on the condition to their children.
While there is currently no cure for CIPA, management focuses on preventing injuries and complications. Regular monitoring, protective measures, and early intervention are crucial to ensure the well-being of individuals with CIPA.