Congenital insensitivity to pain with anhidrosis
Encyclopedia
Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare
inherited disorder of the nervous system
which prevents the sensation of pain
, heat, cold, or any real nerve-related sensations (including feeling the need to urinate); however, patients can still feel pressure. CIPA is the fourth type of hereditary sensory and autonomic neuropathy
(HSAN), known as HSAN IV. (It is also referred to as HSAN Type IV). A person with CIPA cannot feel pain or differentiate even extreme temperature
s. "Anhidrosis
" means the body does not sweat
, and "congenital" means that the condition is present from birth.
during hot weather because of inability to sweat, mental retardation
as a result of hyperthermia, infection
and scar
ring of the tongue, lips and gums, chronic infections of bones and joints, bone fracture
s, multiple scars, osteomyelitis
and joint deformities, which may lead to amputation. Other common problems are eye related , such as infection due to the sufferers rubbing them too hard, too frequently or scratching them during sleep.
, based on similar symptoms of severe injuries to the hands and feet.
The genetic mutation is in the gene encoding the neurotrophic tyrosine kinase receptor (NTRK1 gene).
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 so they cannot chew through their tongue, lips or fingers until their full set of adult teeth grow through.
; there are more than 300 in Japan
. Only one case is documented in New Zealand
, while two cases have been documented in Morocco
. Sixty 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 for 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.
in the episode "Insensitive
" (14th episode), 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.
Baby Carson was featured on Discovery Health Channel
's Mystery Diagnosis
episode "The Boy Who Never Cried", which aired on 21 November 2009. Dr. David Christopher of Valley Children's Clinic, Renton, Washington
is his doctor.
In Stieg Larsson
's novel The Girl Who Played with Fire
, one of the villains, known through most of the book as the "blonde giant", suffers from the disorder.
In (James Anderson) the 2010 film Bereavement
, 6 year old Martin Bristol, one of the main characters, suffers from CIPA.
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
inherited disorder of the nervous system
Nervous system
The nervous system is an organ system containing a network of specialized cells called neurons that coordinate the actions of an animal and transmit signals between different parts of its body. In most animals the nervous system consists of two parts, central and peripheral. The central nervous...
which prevents the sensation of pain
Pain
Pain is an unpleasant sensation often caused by intense or damaging stimuli such as stubbing a toe, burning a finger, putting iodine on a cut, and bumping the "funny bone."...
, heat, cold, or any real nerve-related sensations (including feeling the need to urinate); however, patients can still feel pressure. CIPA is the fourth type of hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy or hereditary sensory neuropathy is a condition used to describe any of the types of this disease which inhibit sensation.They are less common than Charcot-Marie-Tooth disease....
(HSAN), known as HSAN IV. (It is also referred to as HSAN Type IV). A person with CIPA cannot feel pain or differentiate even extreme temperature
Temperature
Temperature is a physical property of matter that quantitatively expresses the common notions of hot and cold. Objects of low temperature are cold, while various degrees of higher temperatures are referred to as warm or hot...
s. "Anhidrosis
Anhidrosis
Anhidrosis means lack of sweating. It is also known by a number of other names including Adiaphoresis, Ischidrosis, Hypohidrosis, Oligidria, Oligohidrosis and Sweating deficiency.-Causes:...
" means the body does not sweat
SWEAT
SWEAT is an OLN/TSN show hosted by Julie Zwillich that aired in 2003-2004.Each of the 13 half-hour episodes of SWEAT features a different outdoor sport: kayaking, mountain biking, ice hockey, beach volleyball, soccer, windsurfing, rowing, Ultimate, triathlon, wakeboarding, snowboarding, telemark...
, and "congenital" means that the condition is present from birth.
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, hyperthermiaHyperthermia
Hyperthermia is an elevated body temperature due to failed thermoregulation. Hyperthermia occurs when the body produces or absorbs more heat than it can dissipate...
during hot weather because of inability to sweat, mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
as a result of hyperthermia, infection
Infection
An infection is the colonization of a host organism by parasite species. Infecting parasites seek to use the host's resources to reproduce, often resulting in disease...
and scar
Scar
Scars are areas of fibrous tissue that replace normal skin after injury. A scar results from the biological process of wound repair in the skin and other tissues of the body. Thus, scarring is a natural part of the healing process. With the exception of very minor lesions, every wound results in...
ring of the tongue, lips and gums, chronic infections of bones and joints, bone fracture
Bone fracture
A bone fracture is a medical condition in which there is a break in the continuity of the bone...
s, multiple scars, osteomyelitis
Osteomyelitis
Osteomyelitis simply means an infection of the bone or bone marrow...
and joint deformities, which may lead to amputation. Other common problems are eye related , such as infection due to the sufferers rubbing them too hard, too frequently or scratching them during sleep.
Differential diagnosis
Congenital insensitivity to pain with anhidrosis may be misdiagnosed for leprosyLeprosy
Leprosy or Hansen's disease is a chronic disease caused by the bacteria Mycobacterium leprae and Mycobacterium lepromatosis. Named after physician Gerhard Armauer Hansen, leprosy is primarily a granulomatous disease of the peripheral nerves and mucosa of the upper respiratory tract; skin lesions...
, based on similar symptoms of severe injuries to the hands and feet.
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 naloxoneNaloxone
Naloxone is an opioid antagonist drug developed by Sankyo in the 1960s. Naloxone is a drug used to counter the effects of opiate overdose, for example heroin or morphine overdose. Naloxone is specifically used to counteract life-threatening depression of the central nervous system and respiratory...
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
Sweat gland
Sweat glands, or sudoriferous glands, are small tubular structures of the skin that produce sweat. There are two kinds of sweat glands:...
, nerve fibers, ulcers
Ulceration
Ulceration may refer to:-In medicine:*Ulcer , a discontinuity of the skin or a break in the skin that stops it from continuing its normal functions*Corneal ulcer, an inflammatory or infective condition of the cornea...
, and other sub-conditions. It has been suggested that young CIPA sufferers have their baby teeth removed so they cannot chew through their tongue, lips or fingers until their full set of adult teeth grow through.
Incidence
CIPA is extremely rare. There are 84 documented living cases in the United StatesUnited States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
; there are more than 300 in Japan
Japan
Japan is an island nation in East Asia. Located in the Pacific Ocean, it lies to the east of the Sea of Japan, China, North Korea, South Korea and Russia, stretching from the Sea of Okhotsk in the north to the East China Sea and Taiwan in the south...
. Only one case is documented in New Zealand
New Zealand
New Zealand is an island country in the south-western Pacific Ocean comprising two main landmasses and numerous smaller islands. The country is situated some east of Australia across the Tasman Sea, and roughly south of the Pacific island nations of New Caledonia, Fiji, and Tonga...
, while two cases have been documented in Morocco
Morocco
Morocco , officially the Kingdom of Morocco , is a country located in North Africa. It has a population of more than 32 million and an area of 710,850 km², and also primarily administers the disputed region of the Western Sahara...
. Sixty 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 for the short life span is often related to the sufferer's inability to sweat, which leads to hyperthermia
Hyperthermia
Hyperthermia is an elevated body temperature due to failed thermoregulation. Hyperthermia occurs when the body produces or absorbs more heat than it can dissipate...
, to which infants are especially susceptible. Vital signs
Vital signs
Vital signs are measures of various physiological statistics, often taken by health professionals, in order to assess the most basic body functions. Vital signs are an essential part of a case presentation. The act of taking vital signs normally entails recording body temperature, pulse rate ,...
need to be monitored closely since patients are generally unable to feel when something is wrong.
In the media
In the third season of the TV series HouseHouse (TV series)
House is an American television medical drama that debuted on the Fox network on November 16, 2004. The show's central character is Dr. Gregory House , an unconventional and misanthropic medical genius who heads a team of diagnosticians at the fictional Princeton-Plainsboro Teaching Hospital in...
in the episode "Insensitive
Insensitive (House)
"Insensitive" is the fourteenth episode of the third season of House and the sixtieth episode overall.-Plot:The episode begins with teenage Hannah being taken to the hospital by her apparently overprotective mother after falling on ice...
" (14th episode), the patient (Hannah Morganthal, played by Mika Boorem
Mika Boorem
Mika Sue Boorem is an American actress who has appeared in the films Blue Crush , Carolina , Sleepover , and Smile ....
) suffers from this condition.
In the third season of the TV series Grey's Anatomy
Grey's Anatomy
Grey's Anatomy is an American medical drama television series created by Shonda Rhimes. The series premiered on March 27, 2005 on ABC; since then, seven seasons have aired. The series follows the lives of interns, residents and their mentors in the fictional Seattle Grace Mercy West Hospital in...
in the episode "Sometimes a Fantasy
Sometimes a Fantasy (Grey's Anatomy)
"Sometimes a Fantasy" is the third episode of the third season of the ABC series, Grey's Anatomy. The episode was written by Debora Cahn and was directed by Adam Arkin. It originally aired on October 5, 2006, running for 43:12 min.-Starring:...
", Abigail Breslin
Abigail Breslin
Abigail Kathleen Breslin is an American teen actress. She is one of the youngest actresses ever to be nominated for an Academy Award....
's character, Megan Clover, is diagnosed with this condition.
Baby Carson was featured on Discovery Health Channel
Discovery Health Channel
Discovery Health Channel is a website owned by Discovery Communications, created for people interested in health and wellness. Until December 31, 2010, it was a U.S. cable television specialty channel dedicated to television programming that highlights various aspects of health and wellness...
's Mystery Diagnosis
Mystery Diagnosis
Mystery Diagnosis is a television program that airs on the OWN: Oprah Winfrey Network. Each episode focuses on two or more individuals and their struggles to find out what ailments they suffer from....
episode "The Boy Who Never Cried", which aired on 21 November 2009. Dr. David Christopher of Valley Children's Clinic, Renton, Washington
Renton, Washington
Renton is an Eastside edge city in King County, Washington, United States. Situated 11 miles southeast of Seattle, Washington, Renton straddles the southeast shore of Lake Washington. Founded in the 1860s, Renton became a supply town for the Newcastle coal fields...
is his doctor.
In Stieg Larsson
Stieg Larsson
Karl Stig-Erland Larsson , who wrote professionally as Stieg Larsson, was a Swedish journalist and writer, born in Skelleftehamn outside Skellefteå. He is best known for writing the "Millennium series" of crime novels, which were published posthumously...
's novel The Girl Who Played with Fire
The Girl Who Played with Fire
The Girl Who Played with Fire is the second novel in the best-selling "Millennium series" by Swedish writer Stieg Larsson. It was published posthumously in Swedish in 2006 and in English in January 2009....
, one of the villains, known through most of the book as the "blonde giant", suffers from the disorder.
In (James Anderson) the 2010 film Bereavement
Bereavement (film)
Bereavement is a 2010 American Slasher film starring Michael Biehn, Alexandra Daddario, John Savage and Nolan Gerard Funk. It is a prequel to director Steven Mena's previous film Malevolence, and centers on a child who is abducted and forced to bear witness to a madman's crimes.-Plot:The film...
, 6 year old Martin Bristol, one of the main characters, suffers from CIPA.
See also
- Hereditary sensory and autonomic neuropathyHereditary sensory and autonomic neuropathyHereditary sensory and autonomic neuropathy or hereditary sensory neuropathy is a condition used to describe any of the types of this disease which inhibit sensation.They are less common than Charcot-Marie-Tooth disease....
- Familial dysautonomiaFamilial dysautonomiaFamilial dysautonomia is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce...
- Familial dysautonomia
- Congenital insensitivity to painCongenital insensitivity to painCongenital insensitivity to pain , also known as congenital analgesia, is one or more rare conditions where a person cannot feel physical pain...
- NociceptionNociceptionNociception is defined as "the neural processes of encoding and processing noxious stimuli." It is the afferent activity produced in the peripheral and central nervous system by stimuli that have the potential to damage tissue...
External links
- The Facts of Painless People The website of two adults on separate sides of the world who were born with CIPA.
- 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.