Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare inherited disorder of the nervous system which prevents the sensation of pain, heat, and cold or any real nerve related feeling (including the feeling to need to urinate) however they can feel pressure. CIPA is part of a family of disorders called HSAN, which stands for hereditary sensory and autonomic neuropathy. A person with CIPA cannot feel pain or differentiate even extreme temperatures. "Anhidrosis" means the body does not sweat, and "congenital" means that the condition is present from birth. The odds of being born with this condition are 1 in 125 million.

[edit] Clinical description

Patients with this disorder are very likely to injure themselves in ways that would normally be prevented by feeling pain. The main features of the disorder are lack of pain sensation, painless injuries of the arms, legs and oral structures, fever during hot weather because of inability to sweat, mental retardation, infection and scarring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures, multiple scars, osteomyelitis and joint deformities, which may lead to amputation. Other common problems include eye related ones, such as infection due to the sufferers rubbing them too hard, too frequently or scratching them during sleep.

[edit] Cause

CIPA is caused by a genetic mutation which prevents the formation of nerve cells which are responsible for transmitting signals of pain, heat, and cold to the brain. Overheating kills more than half of all children with CIPA before age 3. The genetic mutation is in the gene encoding the neurotrophic tyrosine kinase receptor (NTRK1 gene).

[edit] Treatment

Treatments for CIPA do not always work; however, there are some cases where naloxone may be used as a treatment. Naloxone is a chemical that acts within the nervous system of the body by blocking the nervous system from causing the inactions that occur within the group of cells that receives the message to initiate the sensation of pain, heat, or cold. Most treatments are hard to narrow down for this condition because each CIPA patient may have other conditions including the absence of a sweat gland, nerve fibers, ulcers, and other sub-conditions. It has been suggested that young CIPA sufferers have their baby teeth removed until they are old enough to learn not chew through their tongue or fingers and their full set of adult teeth grow through.

[edit] Incidence

CIPA is extremely rare. There are 84 documented living cases in the United States; there are more than 300 in Japan. Only one case is documented in New Zealand, while 2 cases have been documented in Morocco. 60 cases had been reported worldwide by 1983, when CIPA was first listed as a disorder.

Most infants afflicted with the disorder do not live past 3 years of age, and those who do rarely pass age 25. The reason behind the short life span is often related to the sufferer's inability to sweat, which leads to hyperthermia, to which infants are especially susceptible. Vital signs need to be monitored closely since patients are generally unable to feel when something is wrong.

[edit] In the media

In the third season of the TV series House in the episode "Insensitive", the patient (Hannah Morganthal, played by Mika Boorem) suffers from this condition.

In the third season of the TV series Grey's Anatomy in the episode "Sometimes a Fantasy", Abigail Breslin's character, Megan Clover, is diagnosed with this condition.

Farfarello, from the anime series Weiss Kreuz suffers from this condition.

Baby Carson was featured on Discovery Health Channel's Mystery Diagnosis (The Boy Who Never Cried) on 21 Nov, 2009. Dr. David Christopher of Valley Childrens Clinic, Renton WA is his doctor.

In Larsson, The Girl Who Played with Fire, one of the villains, known through most of the book as the "blonde giant," suffers from the disorder.

[edit] See also

• Hereditary sensory and autonomic neuropathy
  • Familial dysautonomia
• Congenital insensitivity to pain

[edit] References

• Felicia B Axelrod and Gabrielle Gold-von Simson (October 3, 2007). "Hereditary sensory and autonomic neuropathies: types II, III, and IV". Orphanet Journal of Rare Diseases 2 (39): 39. doi:10.1186/1750-1172-2-39. PMID 17915006. PMC 2098750. http://www.ojrd.com/content/2/1/39. Retrieved 2008-11-04. 

• http://health.howstuffworks.com/cipa.htm/printable

[edit] External links

• McMaster Meducator on CIPA April 2005, 6: 20-21 by Abdullah Alabousi.
• CIPA by Courtney Wood
• Help Roberto The website and online Charity of young boy with CIPA. Features Roberto's specific case, up to date information about CIPA, and links to videos on CNN and the Discovery Channel.