A LIFE WITHOUT PAIN - CIPA
Congenital insensitivity to pain with anhidrosis (CIPA)
What is CIPA?
CIPA or hereditary sensory; Type IV autonomic neuropathy is a rare autosomal recessive genetic disorder characterized by a disorder of the nervous system which includes insensitivity to pain, lack of thermal sensitivity temperature and inability to sweat. Individuals affected with CIPA are unable to live a normal since they must always check for bruises, cuts and other possible self injuries. Therefore, in most cases the patient doesn’t live over the age of 25.
What are the causes?
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.
Mutations in gene NTRK1 cause CIPA. This gene encodes for allowing receptor proteins to bind with protein (NGFB), this allows signals to be passed along. However, the mutation in NTRK1 prevents the receptors to bind properly, causing the sensory nervous system to be unable to pass on signals. Without the proper signaling, neurons die by a process called apoptosis. Loss of neurons therefore leads to the inability to feel pain and make a response to potentially harmful stimuli such as intense chemical, mechanical, or thermal stimuli (heat or cold). Moreover, individuals with CIPA lose nerves which leads to their sweat glands which prevents them from sweating.
High risk for accidental self-mutilation such as biting the tongue, lips, or fingers
Extremely high fevers and seizures brought by inability to sweat
Corneal ulceration occurs due to lack of protective impulses
Joint and bone issues due to repeated injuries
Wounds heal poorly
About half of affected individuals show mental disabilities due to lack some neurons in the brain
In the past, the diagnosis of CIPA is suspected in infants and children with recurrent fever and biting of the tongue, lips, or fingers and older individuals with repeat traumatic injuries. However, the diagnosis can now be confirmed through genetic testing.
There is still no cure for CIPA. However, controlling body temperature, preventing self-injury, and treating orthopedic problems is necessary.
CIPA are inherited in an autosomal recessive pattern, meaning that both copies of genes have completely mutated. Parents of CIPA patients each carry one copy of the mutated gene but do not show the signs and symptoms of the disease.