Congenital Insensitivity To Pain With Anhidrosis (CIPA) is an extremely rare genetic disorder that affects the nervous system. Individuals with CIPA are unable to feel pain and are unable to sweat, leading to a lack of temperature regulation in their bodies.
CIPA is caused by mutations in the NTRK1 gene, which is responsible for producing a protein necessary for the development and survival of nerve cells. Without this protein, the nerve cells that transmit pain, temperature, and sweat signals do not function properly.
People with CIPA may injure themselves without realizing it, as they cannot feel pain. This can lead to severe complications such as burns, fractures, and infections. Additionally, the inability to sweat can result in overheating, especially in hot weather.
Diagnosis of CIPA is typically made in infancy or early childhood based on symptoms and genetic testing. Unfortunately, there is no cure for CIPA, and treatment focuses on managing symptoms and preventing complications.
Living with CIPA requires constant vigilance and protective measures to prevent injuries and maintain body temperature. Regular medical check-ups and close monitoring are essential to ensure early detection and prompt treatment of any potential issues.