Suffer without pain

Congenital Insensitivity to Pain with Anhidrosis, HSAN type IV (CIPA)

  To begin, I do not study medicine.

 We all feel pain and wish we didn't, but is it really a good thing?  Pain is a very important protection mechanism, it alerts us to the existence of injury or damage and contributes to protecting the body.

 If we support the hand on a surface with high temperature, the damage it generates in the tissue, would activate specialized molecular sensors, these will generate electrical signals that propagate quickly through the nerves until they reach the spinal cord, where it connects with other neurons.  From there the signal goes to many parts of the brain, which processes the information and responds with ultra-fast mechanisms (reflexes) in this case by withdrawing the hand, since it acts to protect the body. 

Introduction

CIPA is a very rare disorder that affects the central nervous system (CNS), the pain sensing nerves are not properly connected in part of the brain that receive the pain menssagers, appears at very early age of life and is inherited autosomal recessive;  it means that to have the disease, the person must have two mutated copies of the same gene, if the person inherits a mutated copy of the gene and a normal one;  it would normally be a healthy person who is a carrier, which means that they do not have the disease but still contain the copy of the mutated gene.

 Cause

This condition is due to the mutation of the NTRK1 gene located on chromosome 1, a gene whose main function is to regulate and give instructions for the creation of a protein with great importance for the survival of neurons, especially sensory neurons, its mutation generates  malfunction leading to loss of sensory neurons.

Consequences

 This disease stands out mainly in the inability to detect pain and anhidrosis;  which is the lack or absence of perspiration and the regulation of changes in body temperature. This carries a great risk, as it is very common for affected people to sustain repeated and serious injuries, and a great possibility of intentionally hurting themselves. Lack of sweating can lead to high body temperature (hyperpexy), which can cause febrile seizures.

 The person may also suffer from ostiomyelitis (infections in the bones or bone marrow), or Charcot arthropathy, which is a destructive neuroarthropathic lesion, means that the bones and tissues surrounding the joints are destroyed. Mental retardation at different levels, behavioral or emotional problems and intellectual disabilities, learning problems, etc. Lesions in the extremities due to the accumulation or loss of nerve fibers, which are those that allow the transmission of information from one neuron to another, type C unmyelinated cells and a decrease in the size of delta type A myelin cells.

 Characteristics of C and A delta fibers

 Type C:

 A type of fiber that is not covered by myelin, this causes its conduction to be slow, and its function is to respond to thermal, mechanical and chemical stimuli (polymodal nocioceptors)

 Type A delta:

 A type of fiber that is covered by myelin, hence its rapid conduction, and its function is to conduct short-latency pain signals that require a rapid response.