HSAN Type V, also known as congenital insensitivity to pain with partial anhidrosis (CIPA), is a rare genetic disorder characterized by the inability to feel pain and a diminished ability to sweat, leading to an increased risk of injuries and overheating.
Individuals with HSAN Type V are born with this condition, and it is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene to pass it on to their child. The condition is caused by mutations in the NTRK1 gene, which encodes a receptor responsible for transmitting pain, temperature, and touch sensations to the brain.
The inability to feel pain is the distinguishing feature of HSAN Type V, and while it may seem advantageous at first, it can be extremely dangerous. Affected individuals typically experience numerous injuries throughout their lives, including fractures, burns, and cuts, often due to unrecognized trauma. Additionally, the reduced or absent ability to sweat can lead to potentially life-threatening episodes of overheating, especially during physical activity or in warm environments.
There is currently no cure for HSAN Type V, and treatment primarily focuses on managing symptoms and preventing complications. Since individuals with this condition are unable to perceive pain, regular monitoring and frequent medical checkups are necessary to promptly identify and address any injuries or health issues. Additionally, they should take necessary precautions to prevent overheating, such as avoiding extreme temperatures, maintaining hydration, and using cooling measures as appropriate.
In conclusion, HSAN Type V is a rare genetic disorder characterized by the inability to feel pain and diminished ability to sweat, resulting in an increased risk of injuries and overheating.
