CIPA Disease: When a Person Can't Feel Pain

Congenital insensitivity to pain and anhydrosis (CIPA) is a rare hereditary disease. It causes affected individuals to be unable to feel pain and unable to sweat (anhydrosis).

It is also called hereditary sensory and autonomic neuropathy type IV (HSAN IV). Hereditary means that it runs in families. Sensory neuropathy means that it is a nerve disease that affects nerves controlling sensation like pain. Autonomic refers to autonomic nerves that control survival functions of the body, like sweating.

This article discusses the symptoms and causes of CIPA. It also covers how it's diagnosed and what to expect.

Symptoms

CIPA disease is present at birth. It makes people unable to sense pain or temperature and unable to sweat. The symptoms become apparent during childhood and the disease is typically diagnosed during childhood.

Lack of Pain

Most people who have CIPA do not complain of lack of pain or lack of sweat. Instead, children with CIPA initially experience injuries or burns without crying, complaining, or even noticing. Parents may observe that a child with CIPA is just a mild-mannered kid, rather than noticing a problem.

After a while, parents might begin to wonder why the child doesn't respond to pain. The child’s doctor would likely run some diagnostic tests for nerve disease. Children with CIPA typically become repeatedly injured or burned because they do not avoid painful activity.

These children can even develop infected wounds because they do not instinctively protect their wounds from further pain. Sometimes, children with CIPA need to be medically evaluated for excessive injuries.

When the medical team observes unusually calm behavior in the face of pain, this can prompt an evaluation for sensory neuropathy.

Anhydrosis (Lack of Sweating)

Hydrosis means sweating. Anhydrosis means lack of sweating. Normally, sweat on the surface of the skin helps cool off the body when we get too hot. This could be from exercise or from a high fever.

Children (and adults) with CIPA suffer consequences of anhydrosis, such as excessively high fevers. That's because they lack the "cooling off" protection that sweating can provide.

Causes

CIPA is a hereditary disease. It is autosomal recessive, which means that any person who has CIPA must inherit the gene from both parents. Typically, the parents of an affected child carry the gene but do not have the disease if they only inherited the gene from one parent.

The abnormal gene responsible for CIPA, human TRKA (NTRK1), is a gene that directs the body to develop mature nerves.

When this gene is defective, as it is among those who have CIPA, the sensory nerves and some autonomic nerves do not fully develop. Therefore, the sensory nerves cannot function properly to sense messages of pain and temperature, and the body cannot produce sweat.

Diagnosis

There are no simple X-ray tests or blood tests that can identify CIPA. Some people who have CIPA have abnormally underdeveloped nerves and a lack of sweat glands on a biopsy.

The most definitive diagnostic test for CIPA is a genetic test. This can be done before birth or during childhood or adulthood. A genetic DNA test can identify an abnormality of the human TRKA (NTRKI) gene, confirming the diagnosis of CIPA.

Treatment

At the current time, there is no cure for CIPA disease. No treatment is available to replace the missing sensation of pain or the function of sweating.

Children with the disease have to try to prevent injuries and monitor injuries carefully in order to avoid infection. 

Parents and other adults who care for children with CIPA must also remain vigilant. Children naturally may want to try new things without fully understanding the potential significance of physical injuries.

Expectations

If you or a loved one has been diagnosed with CIPA, you can have a healthy, productive life with good medical care and lifestyle adjustments. Knowing that it is a genetic disease is an important consideration when it comes to family planning.

CIPA is a rare disorder. Finding support groups for unique health problems can help in terms of gaining social support. It can also help you learn practical tips to help make living with CIPA easier.

Summary

CIPA is a rare genetic disorder that causes you to be unable to feel pain and unable to sweat. It's caused by a defective gene that affects the development of nerves sensing pain and temperature.

Because of the lack of pain, you may be unaware of when you're injured. This can lead to repeated injury or wound infections. Lack of sweating can cause a rise in body temperature, sometimes leading to high fevers.

There is no cure for CIPA, so it's important to be cautious to avoid injuries and monitor any wounds for infection. Support groups can also be helpful for social support and tips for living with CIPA.