Joe and Karl

Congenital Insensitivity to Pain with Anhidrosis


Where on Chromosome is Problem?

- Chromosome 1 - a mutation within the neurotrophic tyrosine kinase receptor (also known as the NTRK1 gene)

What Is the Problem?

- This genetic disorder leads to insensitivity to all pain and temperature differences, along with a failure of the sweat glands. Their inability to feel pain leads to them injuring themselves without noticing, and infections pose a great hazard to CIPA patients. Because there is no sweating, the body is unable to naturally regulate its temperature and becomes susceptible to recurrent fevers and seizures brought on by high temperatures.

Their palms are often thick and leathery and distorted fingernails and toenails, and they often will have emotional instability or intellectual disabilities as well. Many also completely lack the ability to smell. Sometimes the symptoms on hands or legs will resemble leprosy, as some with CIPA are misdiagnosed with leprosy.

What is the Prognosis?

There is no “cure” for CIPA, and it can only be managed to reduce the chances of the fevers/seizures or injuries to themselves that they are unable to feel. Generally their life expectancy is reduced due to repeated injuries and infections which happen due to their lack of pain.

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