Congenital Insensitivity to Pain and Anhidrosis (CIPA)

1. Congenital Insensitivity to Pain and Anhidrosis (CIPA) Abby Christensen Dr. Williams NS 215

2. CIPA • CIPA is also known as hereditary and autonomic neuropathy type IV (HSAN IV) • This disease is a very rare genetic disease that causes the person to not feel pain, and have a lack of sweat glands. • The lack of sweat glands leaves the person without the ability to maintain temperature and cool the body.

3. What Causes it? • CIPA is a autosomal recessive disorder, meaning both parents need to be carriers of this disease for a person to have it. • It is caused by the mutations of the NTRK1 gene.

4. How it Works • With normal cases, the nociceptors send the message of “pain” through peripheral nerves through the spine and then the brain. • Several studies show that people with CIPA lack the nerve fibers so the message is not lost, but is not being sent to the brain.

5. Symptoms • Lack of sweat glands makes the skin thick and leathery. • Overheating during hot weather. • Bite marks on the tongue, lips and fingers. • Sever ulcers

6. Symptoms Continued • Fractures heal slowly • Chronic infections in the bones and joints • Multiple scars • Osteomyelitis and joint deformities that can lead to amputations. • When you are uncomfortable you can adjust but a CIPA patient does not know that that position can harm their joints or bones. • Infections of the eye • Scratches of the eye

7. Detection • Even though people with CIPA are born with this disease, it is usually diagnosed in infancy. • Usually the first signs are • Several bite marks on the tongue and fingers without response. • Some bite the tip of their tongue completely off by the time they are two without realizing it. • Sever ulcers appearing on the tongue

8. Treatment • While there is not cure for CIPA, there are experimental treatments using naloxone. • This chemical “works within the group of cells that receives the message to initiate the sensation of pain, heat, or cold” (Kennedy 2010).

9. Treatment Continued • Usually is used as a drug to counter opiodid overdose, but has shown success with some CIPA patients. • However most CIPA patients also have the lack of sweat glands. Meaning they would still not be able to control body temperature or naturally cool their bodies

10. Problems with Finding Treatment • Because CIPA is such a rare disease, there are not a lot of cases to study. • Also most patients with CIPA do not live past age three. • If they manage to, they only live to about twenty-five years.

11. Care • CIPA patients have to stay out of direct sunlight in order to attempt to keep their bodies from overheating. • Most patients have to have feeding inserted because they can not feel when their body is telling them to eat. • Several parents remove baby teeth when they first come in, in order to prevent them from biting through their tongue, lip, or destroying their fingers.

12. Care Continued • CIPA patients have to have someone test the water in bath tubs, dish water, and test that cooked food is not too hot. • Someone has to inform them what to wear because they never know when to wear a winter jacket or short sleeved shirts. • CIPA patients must also be constantly checked for blood, bruising, scratching (especially in eyes), and other signs of possible injuries. • Toiler training is another obstacle. • CIPA children cannot feel when they need to use the bathroom, so they are encouraged to try every two hours.

13. Roberto • Roberto is a 5 yr old boy who suffers from CIPA. • At 3 months he weighed only 12 lbs. because he would not eat. • He constantly slept (average 23hrs a day). • By 8 months he had not gained any weight so doctors inserted a feeding tube. This helped him to gain weight at a healthily rate. • When he was 8 months old he also had several teeth removed. Roberto

14. Roberto • At 11 months Roberto had a fever of 108 and was forced to stay in the hospital until they could lower his core temperature. • Injuries continued to place him in the hospital for next several years. • When he was 2 ½ he had broken his foot, but he was walking and running on it for nearly a week before anyone knew what was wrong. • After this case, Roberto was finally diagnosed with CIPA.

15. A Day in The Life • Roberto is now 5 and has no baby teeth, his parents did remove several permanent teeth as well. He does have four teeth, but they do not have a lot of use. • He still bits his tongue and has now lost a large portion of the tip of it. • His hand have to be bond so that he will not chew on them. • He has several medications for hyperactivity and to help him sleep at night. • His family has learned that when his body begins to overheat, he becomes extremely fussy and irritated. This is their cue to give him Tylenol through his feeding tube.

16. Bibliography • Abdel-Hafez, H.Z. and S.M. Awad. 2007. Congenital Insensitivity to pain with Anhidrosis. Egyptian Dermatology Online Journal 3(1): 5. • www.helproberto.com/cipa.php • Endo, F., F. Endo, I. Matsuda, and S. Mardy. 2001. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 10(3): 179-188. • www.medical-library.net • www.health.howstuffworks.com/disease-condtions/rar/cipa2.htm