Pain is the body’s alarm system, without it, you may not know that you have injuries-even if they’re serious.
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare, neurological disease/disorder characterized by:
- The inability to feel pain and temperature.
- Decreased or absence of sweating (Anhidrosis).
This condition is also known as Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV), Familial dysautonomia type 2. CIPA was first described in 1932 by Dearborn as “Congenital pure analgesia”. The disorder is called :
- Sensory neuropathy because it affects the controlling sensations in the body(which includes pain).
- Autonomic because it affects the autonomic nervous system (which regulates sweating)
The signs and symptoms of CIPA usually appear at birth or during infancy. CIPA is extremely dangerous, and in most cases, the patient doesn’t live over the age of 25. The inability to feel pain and temperature often leads to repeated, severe injuries and unintentional self-injury are common.
People with CIPA may also heal slowly from skin and bone injuries, which can lead to Chronic bone infections (osteomyelitis) or a condition called Charcot joints(malformations caused by lack of sensation).
Absent sweating (Anhidrosis) can cause recurrent, high fevers(hyperpyrexia) and seizures brought on by high temperature (febrile seizures). Other features may include dental cavies, difficulty controlling urine and defecating (urine and faecal incontinence) or emotional problems and intellectual disability.
CIPA is caused by changes in the NTRK1 (Neurotrophic Tyrosine-Kinase) Gene- an abnormal Gene whose sensory and autonomic nerves do not fully develop, and the receptor tells the body to make mature nerves. Pain-sensing nerves in these patients are not properly connected to parts of the brain that receive pain messages.
Heat stroke is a medical emergency for CIPA patients and is characterized by:
- Body temperature above 103°F.
- Hot, red, dry skin.
- Rapid, strong pulse/ palpitations.
High fever in children with CIPA can be cared for using Fever reducers like Advil(Ibuprofen), Tylenol (acetaminophen) or Aleve (naproxen) and a cold compress.
CIPA patients are advised to Stay in shade as much as possible when outdoors, rest often when there’s heat, drink cool liquids, wear loose clothes (cotton), take cool baths, use air conditioning when indoors and most importantly go for regular checkups(to check for cuts, bruises and other possible unfelt injuries).
CIPA has no cure but is manageable with the help of a medical team including specialists in Orthopedics, Pediatrics, Dermatology, Opthalmology and Dentistry. They need to visit these specialists regularly to live healthily and avoid constant injuries that could lead to infection.