Congenital Insensitivity to Pain with Anhidrosis

We are going to talk about a very dangerous disease called Congenital Insensivility to Pain with Anhidrosis. We will explain you the causes and consequences of this awful disease. Also, we are going to talk about the different kinds of pain.

Many people think that life without pain is wonderful, but that is a BIG lie. Pain is very important feeling in our lives because the pain tells you when something is wrong with your body or when you are in danger.

What is Congenital insensitivity to pain with anhidrosis?

Congenital insensitivity to pain with anhidrosis is a disease that makes that your body can't feel pain, hot or cold temperatures. To get this disease, you have to born with it (that is why it is congenital). Also, the people that have CIPA can't sweat (anhidrosis is the inabiltiy to sweat).

What are the causes of the CIPA?  
You feel pain because ther is something called the nervous system. The nervous system is conformed by your brain, spinal cord and your neurons. There are different types of neurons, the ones that  transform  the external sensations in internal signals that are transmitted through the neurons to the spinal cord and from the spinal cord to the brain.  (Wikipedia.com/nervous system, taken in 2011)

If you have CIPA this is very different. The cause of this disease is a genetic mutation. In our body ther is a protein that allows to the electrical charged particles to cross through the neurons to the brain and send the message. The genetic mutation stopped the protein from working and that certain type of cells can pass the mesaage to the brain telling if something is hot, cold or if you have pain. 

As you know, if you have CIPA you can't feel pain but also you can't sweat. That is because all over your body you have the eccrine sweat glands which are responsible to make you sweat. The genetic mutation stopped the protein form working so the eccrine glands can't communicate with the brain. If the brain can't communicate with the eccrine glands, it means that  the brain can't tell to the sweat glands to sweat. 

(Katie Lambert in How Stuff Works.com, taken in 2011)

How is this disease related to the nervous system?

This disease is related to the nervous system because the genetic mutation  stopped a protein from working. This protein is very important for the nervous system because this protein is the one that allow to the charged impulses that send the message to cross through the neurons (that are a very important of the nervous system).

This disease is a very huge problem for the nervous system becaues it damages the principal function of the nervous system that is to communicate the brain with all the body.

Consequences of CIPA

People with CIPA use to bite themselves (fingers and tongue) For example the babies with this disease bite their tongue, so their parents take out their teeth and this make them realize that they might not do it. Other common phenomenon that occurs with kids with this disease is the corneal abrasions and eye injuries (caused because rubbing the eyes too hard).

Congenital insensitivity to pain with anhidrosis also cause a disease called hyperthermia that is an elevation on body temperature, but is not fever.

Patients with CIPA usually have a variety of physical aliments, mental retardation and loss of sensory perception. They sometimes mutilate and hurt themselves because they can not feel it, they only can feel pressure.

How is congenital insensitivity to pain produced?

The human body has receptors and nerves that are the ones the send a message to our brain if pain is felt. In congenital insensitivity to pain the brain can not recognize pain.

Pain is an integral part of the defense system of the body. It signals that something is wrong, and helps to minimize the physical harm that is done to the body. In the majority of cases, when a person finds something to be painful, they react in such a way to alleviate the pain, resultingin the harm of thir body being minimized;howevwer, in certain individuals, the pain is ether no felt, or no reaction is observed , resulting in more harm being done to the body.(Anne-Marie Schmid-2006)

Treatment

There is not cure for this disease, and actually the "treatment" is emphasized on making that the younger children with CIPA do not hurt themselves. These children might not practice sports where they can result injured for example,  jumping from heights. Their parents have to take care of their skin and injuries. Some medicines as The Naloxone are also used to treat the CIPA. The Naloxone function is to block the nervous system from the production of cells that receive the message of pain, hot and cold.  

Interesting Data

According to investigations they have been documented more or less 84 cases of CIPA in the United States, 300 in Japan, one in New Zealand and two in Morocco. Due to the inability to sweat (hyperthermia), patients with CIPA do not live more than 25 years. The rarity of this disease and the very low survival rate of it makes it difficult to study. 

A high percentage of individuals who make it past three years suffer from mental retardation and even during their infant years, retardation is likely because higher body temperature allows more harmful bacteria and virus attacks occur. In some cases, when infections or viruses attack, blood vessels can swell an cause aneurysms, all of which a CIPA patient will not even feel.  (Ron Kennedy, M,D., Santa Rosa, CA).

Cases of children with Congenital insensitivity to pain with Anhidrosis

Roberto's case

Roberto is a child with the disorder known as Congenital Roberto is a child with the disorder known as Congenital Insensitivity to pain with anhidrosis (CIPA). He lives with his mom and two brothers who are also greatly affected by his disorder. He lives his life without ever knowing pain known, the ability to regulate his own body temperature (sweating), and never feeling hungry.


At the age of 3 months old (he weighed 12 pounds) Roberto refused to eat, he would sleep 23 out of 24 hours a day and he never cried. He was diagnosed with Failure to Thrive.

When he was 8 months old he weighted 12 pounds and the physicans after much prodding by his mother placed a feeding tube. At the same time they did oral surgery and removed multiple teeth. Roberto began to gain weight well.  He had difficulty focusing on anything for more than a split second. At the age of 11 months he was hospitalized for heat stroke, his core body 
temperature was 108. 

Over the next year and a half there were multiple hospitalizations for infections is joints and his mouth. At the age of 2 and a half he was hospitalized with a broken foot that he walked on for days before we knew anything was wrong. 



This finally led us to New York University where Roberto was diagnostic with CIPA. Was this a relief (finally after 2 and half years a diagnosis) or was it your worst nightmare?

At least now we knew what we were up against and it was nice hearing it from people who had experience. No one prior to this time ever mentioned that Roberto might he hyperactive, yet at NYU they stated that he was the most hyperactive child with CIPA that they have ever seen.


Roberto is now 5 and a half years old. His baby teeth are all gone. Several of his permanent teeth has been removed, 4 teeth remain but they serve no function when it comes to chewing. His hands are wrapped most of the time to prevent him from chewing on them. He continues to mutilate his tongue and has lost the entire front left section. Eating is one of his least favorite activities.


He takes multiple medications for hyperactivity and behavior and medication to help with sleep. He still has his feeding tube, which all medications are given thru. When Roberto´s body temperature starts to elevate he becomes very fussy and dosen´t understand what is happening to his body. We most act quickly to administer both Tylenol and Motrin thru the feeding tube to aid the body in cooling down.


Roberto's dark eyes and big smiles bring to everyone he meets. Our hope is that people will aquiere a whole new appreciation for pain after hearing about his diagnosis and realize that pain is a very important part of their life. (helproberto.com)

Types of pain


Here you can learn about some pain types:

The acute pain ”dolor agudo “: Is the pain you feel intense but it disappeared quickly.


Chronic pain: This is the intense pain that you fell when you have back pain or neck pain or shoulder pain.


But the pain is also classified in tow branches the Nociceptive pain and and the Non-Nociceptive.Taken from:(Medical news today) The Nociceptive is the specific pain in which you feel hot cold vibrations; in this kind of pain we have two branches: somatic pain and visceral pain. 


Somatic Pain: This pain is produced when you cut yourself and it got inflammation or hot and cold sensations this is a very specific positioned pain and if you touch the pain zone it will hurts you.


Visceral pain: This kind of pain of pain is the pain that is performed inside the body (the organs) and the cavities (lungs,hearth). This kind of pain is more difficult to find that somatic pain. Taken from: (pain.About). 


Neuropathic pain: This kind of pain is a really curious type of pain because it produces pain but your body does not really know where the pain is produced.  


The sympathetic pain: Is the bone break pain because is not a really specific pain but it produces a lot of pain in your brain "told you" to DO NOT USE THAT BODY PART, because it will going yo produce a lot of pain (janssen-cilag). 


Bibliography
http://news.nationalgeographic.com/news/2006/12/061213-pain_2.html
http://www.associatedcontent.com/article/915341/people_who_cant_feel_pain.html
http://healthmad.com/mental-health/congenital-insensitivity-to-pain-with-anhidrosis/
http://science.howstuffworks.com/environmental/life/human-biology/cipa.htm
http://www.medical-library.net/content/view/1691/41/

http://en.wikipedia.org/wiki/Nervous_system#Neurons

http://en.wikipedia.org/wiki/Sweat_gland

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