Congenital Analgesia

Societal Implications

Although not being able to feel pain seems like a good thing, it truly isn't. These patients must take extreme caution in order to not let an injury go unsupervised. Many doctors appointments and hiring a caregiver may lead to debt. Anhidrosis must be looked after by avoiding many factors. Schools and families will have to accommodate for these issues

Treatment

Research

Most studies are continuing on focusing on the mechanism of this disease rather than curing it. Because their are only 17 current cases of CIPA in America, scientists perception of this genetic disorder is constantly changing. "Understanding mechanisms of autonomic control and pain perception in CIPA and FD is very special, as these are genetic models that help us understand function and maintenance of the autonomic and sensory nervous systems," she said. Scientists have begun to identify pathways absent in CIPA patients that may be essential for developing the entire nervous system, not just pain neurons. "Right now we are still trying to understand the mechanisms, but the goal of course will be how to use this knowledge to help the patients," Dr. Axelrod said.

Treatment

Prevention

Treatment

Manifestations

Avoidance of the following is recommended:

• Hot or cold food/drinks
• Hot or cold environments
• Hot showers or baths
• Cold pools
• Extreme activities

Treatment

For insensitivity to pain:

• Modify children's activities
• Mouth guards, smoothing of the teeth, tooth extraction
• Extensive skin care

For anhidrosis:

• Monitoring body temperature

Surveillance

Daily evaluation by caregivers must be preformed to recognize injuries. Regular checkups by doctors is a must to prevent injury and to initiate treatment.

Molecular Testing

To determine Congenital Analgesia with Anhidrosis, a sequence analysis is performed.

• Unable to feel any physical pain or change in temperature
• Intellectual disability
• Absence of sweating (Anhidrosis)
• Failure to recognize Injuries

Diagnosis

Congenital Analgesia

With Anhidrosis

The diagnosis of Congenital insensitivity with anhidrosis is based on the following criteria:

Neurological Examination

• Pain tests
• Perception of heat test
• Histamine test
• Sweating tests
• Cold Pressor test
• Skin Biopsy

Holly Barkley

SBI3U

Genetics of CIPA

CIPA is an autosomal recessive disorder. It is caused by a mutation in the neurotrophic tyrosine kinase receptor type I NTRK1 gene. When the NTRK1 gene is mutated, neurons die prematurely. This premature destruction of sensory nerve cells result in the symptoms of CIPA.

Congenital Analgesia With Anhidrosis

Statistics

Also known as CIPA, Congenital Analgesia with Anhidrosis is a very rare genetic disorder in which from birth, a person cannot feel pain, or have the ability to sweat. Other sensations, like the sense of touch, can be felt. Because of unreported health issues and overheating, life expectancy is reduced significantly. If children live past 3, the life expectancy is raised to 25.

CIPA is extremely rare. In the United States, only 60 cases have been reported, and only 300 other cases in the world. At conception, if both parents are carriers, there is a 25% chance of being affected, a 50% chance of being a carrier and a 25% chance of not having the allele whatsoever.