What is the prevalence of Congenital Insensitivity To Pain With Anhidrosis (CIPA)?

Congenital Insensitivity to Pain with Anhidrosis (CIPA), also known as Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV), is an ultra-rare genetic disorder with an estimated global prevalence of less than 1 in 1,000,000 individuals. Because CIPA is frequently underdiagnosed or misdiagnosed due to its complex presentation, the true number of people living with the condition is likely higher than currently documented in medical literature.

How rare is Congenital Insensitivity to Pain with Anhidrosis (CIPA)?

CIPA is classified as an ultra-rare disease. While worldwide prevalence statistics are imprecise, the condition is estimated to affect fewer than 1 in 1,000,000 people. Incidence rates are not well-established, as the rarity makes large-scale epidemiological tracking difficult. At DiseaseMaps.org, we currently support a community of 6 individuals living with Congenital Insensitivity to Pain with Anhidrosis (CIPA), providing a vital space for patients to share experiences that are often overlooked in standard clinical datasets.

Are there demographic or geographic patterns in CIPA?

Congenital Insensitivity to Pain with Anhidrosis (CIPA) does not show a significant preference for gender, affecting males and females with equal frequency. While cases have been reported globally, some studies suggest a higher cluster of identified cases in specific ethnic groups, likely due to the autosomal recessive nature of the NTRK1 gene mutation. Key demographic considerations include:

• Age of Onset: Symptoms are typically present at birth or manifest in early infancy, particularly through unexplained fevers (anhidrosis) and self-mutilating behaviors.


• Inheritance Pattern: As an autosomal recessive condition, it is more prevalent in populations with higher rates of consanguinity.


• Geographic Variability: Reports of CIPA are distributed worldwide, though clinical awareness in developing regions may lead to lower official diagnostic rates.

Why is accurate data on CIPA difficult to obtain?

The primary challenge in mapping the prevalence of Congenital Insensitivity to Pain with Anhidrosis (CIPA) is the high risk of misdiagnosis. Because the inability to feel pain often leads to secondary complications like bone fractures, infections, and corneal damage, patients may be treated for these injuries without the underlying neurological condition being identified. This diagnostic delay obscures the true global prevalence of Congenital Insensitivity to Pain with Anhidrosis (CIPA).

Next steps

• Consult a neurologist or clinical geneticist to confirm a diagnosis through NTRK1 gene mutation testing.


• Join the DiseaseMaps.org community to connect with other families navigating the daily care requirements of Congenital Insensitivity to Pain with Anhidrosis (CIPA).


• Maintain a consistent multidisciplinary care team, including orthopedists and physical therapists, to manage the physical complications associated with this condition.

Medical disclaimer: This content is for informational purposes only and does not substitute professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Hereditary sensory and autonomic neuropathy type IV.


• Orphanet: Congenital insensitivity to pain with anhidrosis (ORPHA:93574).


• OMIM (Online Mendelian Inheritance in Man): Neuropathy, Hereditary Sensory and Autonomic, Type IV (#243000).