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. 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 often related to the sufferers inability to sweat, this leads to many deaths caused by overheating, this is particuallarly prevalent in babies. Without proper monitoring of temperatures and vital signs, the parent or guardian are unable to 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.
In the media
Larsson, The Girl Who Played with Fire. New York: Knopf, 2009.
One of the villains, known through most of the book as the "blonde giant," suffers from the disorder.
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.
See also
References
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.
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Pain and nociception |
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| Head and neck |
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| Thorax |
Back ( upper back, lower back, spinal disc herniation, degenerative disc disease, coccydynia) • Breast ( perimenstrual, breast cancer) • Chest ( myocardial infarction, gastroesophageal reflux disease, pancreatitis, hiatus hernia, aortic dissection, asymptomatic pulmonary embolism, Tietze's syndrome) • Shoulder (right side - cholecystitis)
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| Abdominal |
Left and right upper quadrant ( peptic ulcer disease, gastroenteritis, hepatitis, pancreatitis, cholecystitis, atypical myocardial infarction, abdominal aortic aneurysm, asymptomatic gastric cancer) • Left and right lower quadrant ( appendicitis, ulcerative colitis, Crohn's disease, ectopic pregnancy, endometriosis, pelvic inflammatory disease, diverticulitis, urolithiasis, pyelonephritis, colorectal cancer) |
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| Limbs |
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| Joints (arthralgia) |
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| Musculoskeletal |
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| Other/unspecified |
cold pressor test, congenital insensitivity to pain, dolorimeter, HSAN ( Type I, II congenital sensory neuropathy, III familial dysautonomia, IV congenital insensitivity to pain with anhidrosis, V congenital insensitivity to pain with partial anhidrosis), neuralgia, pain asymbolia, pain disorder, paroxysmal extreme pain disorder • Allodynia, breakthrough pain, chronic pain, hyperalgesia, hypoalgesia, hyperpathia, phantom pain, referred pain
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| Related concepts |
Anterolateral system, gate control theory of pain, pain management ( anesthesia, cordotomy), pain scale, pain threshold, pain tolerance, posteromarginal nucleus, substance P, suffering, OPQRST
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