Is Congenital Insensitivity To Pain With Anhidrosis (CIPA) hereditary?

Congenital Insensitivity to Pain with Anhidrosis (CIPA), also known as Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV), is a strictly hereditary genetic condition. It follows an autosomal recessive inheritance pattern, meaning an affected individual must inherit two copies of a mutated gene, one from each parent.

Is Congenital Insensitivity to Pain with Anhidrosis hereditary?

Yes, Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an inherited disorder caused by mutations in the NTRK1 gene. Because it is autosomal recessive, parents of an affected child are typically asymptomatic carriers, each possessing one mutated gene copy. While Congenital Insensitivity to Pain with Anhidrosis (CIPA) is almost always inherited from parents, spontaneous (de novo) mutations can theoretically occur, though they are rare compared to familial transmission.

What is the risk for children of affected families?

When both parents are carriers of the NTRK1 gene mutation, the risk profile for their biological children is as follows:

• 25% chance of the child having Congenital Insensitivity to Pain with Anhidrosis (CIPA).


• 50% chance of the child being an asymptomatic carrier like the parents.


• 25% chance of the child inheriting two normal gene copies and being neither affected nor a carrier.

How is genetic testing and counseling utilized?

Genetic testing for Congenital Insensitivity to Pain with Anhidrosis (CIPA) is available through molecular sequencing of the NTRK1 gene. It is highly recommended to confirm a clinical diagnosis, especially given the rarity of the condition. Genetic counseling is a vital step for families, as it provides a clear understanding of recurrence risks, carrier testing options for extended family members, and reproductive choices such as preimplantation genetic testing (PGT) for those planning future pregnancies.

Next steps

• Consult with a clinical geneticist to verify the diagnosis of Congenital Insensitivity to Pain with Anhidrosis (CIPA) through molecular testing.


• Connect with the DiseaseMaps.org community to share experiences with the 6 other members currently navigating life with this condition.


• Seek a referral to a genetic counselor to discuss family planning and carrier testing for relatives.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Congenital insensitivity to pain with anhidrosis.


• Online Mendelian Inheritance in Man (OMIM): Sensory and autonomic neuropathy, type IV (#243000).


• Orphanet: Hereditary sensory and autonomic neuropathy type IV.