Congenital insensitivity to pain with anhidrosis

What causes congenital insensitivity to pain with anhidrosis (CIPA)?

CIPA is caused by mutations in the NTRK1 gene, which gives the body instructions to make a protein that is important for the development and survival of nerve cells - especially those that carry information about pain, temperature, and touch (sensory neurons). The NTRK1 protein is found on the surface of cells, particularly sensory neurons, and is needed to transmit signals for cell growth and survival. A mutation in the NTRK1 gene can cause it to function abnormally, keeping neurons from receiving proper signaling and causing them to die as a result. This loss of sensory neurons and nerves leading to sweat glands leads to the signs and symptoms of CIPA.

Studies of brain belonging to people with CIPA have shown abnormalities in the parts of the brain responsible for pain and temperature sensations such as absence of small neurons and fibers in the dorsal ganglia and dorsal roots that contains the cell bodies of sensory neurons that bring information from the periphery to the spinal cord, absence of Lissauer’s tract, made up of fibers convey primarily pain, temperature and light touch information, and reduction in size of the spinal tract of the trigeminal nerve that receives information about deep/crude touch, pain, and temperature from the same side of the face.

Last updated on 05-01-20

What is the long-term outlook for people with congenital insensitivity to pain with anhidrosis (CIPA)?

The long-term outlook (prognosis) for the hereditary sensory and autonomic neuropathy disorders is improving, and they are no longer considered only as diseases of childhood. The prognosis appears to depend on the degree of severity in each person, and the ability to control the complications of the disease. However, with careful medical attention, people with CIPA can live into adulthood.

The main problems are related to the high temperature and the bone problems that are present in CIPA. The disease may be fatal in the first years of life if hyperpyrexia (very high fever) is not properly managed, and it is the most frequently reported cause of death.

Orthopedic problems are also one of the most characteristic and serious complications of CIPA. In older children, osteomyelitis and bone and/or joint deformities require surgeries, which sometimes may need amputations.

Last updated on 05-01-20

Name: Hereditary Neuropathy Foundation Inc. 401 Park Avenue, 10th Floor
New York, NY, 10016, United States
Phone: +1-212-722-8396 Toll Free: 1-855-435-7268 Fax : +1-917-591-2758 Email: Url:
Name: The Center for Peripheral Neuropathy Department of Neurology University of Chicago
5841 S. Maryland Ave MC 2030
Chicago, IL, 60637, United States
Name: Neuropathy Association 60 East 42nd Street Suite 942
New York, NY, 10165, United States
Phone: 212-692-0662 Email: Url:
Name: The Foundation for Peripheral Neuropathy 485 Half Day Road Suite 350
Buffalo Grove, IL, 60089,
Phone: +1-877-883-9942 Fax : +1-847-883-9960 Email: Url:
Indo Y. Congenital Insensitivity to Pain with Anhidrosis GeneReviews. April 17, 2014; Reference Link

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