What increases my risk for CIPA?

General: Because congenital insensitivity to pain with anhidrosis (CIPA) is inherited, the only known risk factor is a family history of CIPA. CIPA is very rare, with fewer than 100 known cases in the United States and about 300 known cases in Japan. However, it occurs more frequently among certain ethnic populations, including people from northern Israel, Ecuador, Sweden, and Japan.

Inheritance: CIPA is caused by a mutation, or genetic error, in theNTRK1gene. This mutation is inherited as an autosomal recessive trait, meaning that a person must inherit two copies of the defectiveNRTK1gene (one copy from each parent) for the disease to appear. People who inherit only one mutated gene are called "carriers" of the disease, and they can pass the mutation to their children.

If one parent is a carrier, or has only one copy of the defective gene, then each child will have a 50% chance of inheriting one defective gene and also being a carrier. If both parents are carriers, each child has a 25% chance of inheriting two defective genes, a 50% chance of inheriting only one defective gene, and a 25% chance of not inheriting either defective gene. Therefore, if both parents are carriers, about one out of four children will have CIPA. As with most recessive disorders, CIPA occurs more often in families that are closely related or consanguineous, meaning that they share a blood line.

Random occurrence: It is unknown whether random mutations in theNTRK1gene can cause CIPA in people with no family history of the disease.

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