Congenital insensitivity to pain with anhidrosis

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. 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. Many scientists believe that this condition is both androphenic and supplementary to the thyroid system. The odds of being born with this condition are 1 in 125 million.

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.

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).

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.

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.

Only 60 cases had ever been reported until CIPA was first listed as a disorder in 1983. Most of the babies that carry this disease do not live past 3 years of age; and rarely pass age 25. The reason behind the short life span is because when it comes to babies, based upon size and the inability to sweat, overheating kills them easily. Without proper actions, such as monitoring vital signs and temperatures, the parent or guardian will never know if the baby is too hot or cold. The inability to sweat normally leads to recurrent fevers that are unexplained and can be fatal due to hyperthermia. Fevers are normally seen as a time frame of your body's defenses kicking in to fight infections; but if not treated, it can cause febrile fits and death. A high percentage of the individuals who make it past three years suffer from mental retardation and even during their infant years, retardation is more likely because higher body temperature allows more harmful bacteria and virus attacks to occur. In some cases, when infections or viruses attack, blood vessels can swell and cause aneurysms; all of which a CIPA patient will not even feel.

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. PMC 2098750. PMID 17915006. Retrieved 2008-11-04.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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.