CIPA (Congenital Insensitivity to Pain with Anhidrosis)

boy in bandage -508126582For some, the idea of having the inability to feel pain may seem ideal.  Although pain may not be one of our preferred sensations; it is very important.  Without the feeling of pain, you are more at risk of sustaining serious injuries. It signals that something is wrong with your body that requires immediate attention.

There are individuals who are insensitive to pain. This can be the result of inherited disorder known as CIPA (congenital insensitivity to pain with anhidrosis). This is an extremely rare disorder which may also cause a person to produce very little sweat or none at all and makes them incapable of feeling temperature. These symptoms appear early in childhood, typically at birth or during infancy.

Unintentional injuries are very common in children with CIPA.  They may bite their tongues, fingers or lips, causing severe damages and in some cases amputation. Other complications associated with the disorder is high fever as the body is unable to sweat and lower temperatures, chronic bone infections as a result of chronic trauma or delay in healing of skin and bone injuries. In some cases, individuals may have intellectual disabilities.

The cause of CIPA is attributed to mutations in the NTRK1 gene.  Mutations in this gene lead to a loss of the sensory neurons, as well as the ability to feel pain.

Diagnosis of CIPA is usually confirmed after a complete evaluation of infants with recurrent fevers, who frequently bite their tongue, fingers or lips. In older individuals, an evaluation is required if they continue to have traumatic injuries.  Assessments of the sensory and autonomic functions are used to form a complete, clinical diagnosis.

There is no cure for CIPA but the condition is manageable with the help of a team of medical professionals that typically include specialists in orthopedics, pediatrics, dermatology, ophthalmology and dentistry. Parents of children with the disorder are strongly advised to keep a watchful eye at all times for signs of injury and to remove items that may result in accidents.

For more information about CIPA and other rare medical conditions, please visit the National Organization for Rare Disorders website www.rarediseases.org.

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.