Congenital insensitivity to pain with anhidrosis (CIPA) is an inherited condition characterized by an absence of pain perception and an inability to sweat.
Individuals with CIPA cannot feel pain, which becomes evident during infancy when they may inadvertently injure their tongue, lips, and fingers by biting them. They are at risk for unnoticed fractures, cuts, and trauma, leading to infection and delayed healing. Repeated injuries can result in scarring and nerve damage, sometimes leading to self-inflicted or injury-related amputations. The inability to sweat, a vital mechanism for temperature regulation, can cause recurrent fevers in those with CIPA. Infants may experience fever-related seizures, and affected individuals are susceptible to abnormal body temperatures, both too low and too high. Intellectual disabilities and hyperactivity are common among individuals with CIPA. Individuals with CIPA require significant medical management. The exact lifespan for individuals with CIPA is unknown, however, some individuals have survived until adulthood.
CIPA is caused by pathogenic (disease-causing) variants in the NTRK1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are hereditary insensitivity to pain with anhidrosis and hereditary sensory and autonomic neuropathy type IV.
Resources:
National Organization for Rare Disorders
Revised September 2023
