Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental. CIPA is the fourth type of hereditary sensory and autonomic neuropathy (HSAN), and is also known as HSAN IV.
Signs and symptoms
Signs of CIPA are present from infancy. Infants may present with seizures related to an abnormally high body temperature. Since people with this condition are unable to sweat, they are unable to properly regulate their body temperature. Those affected are unable to feel pain and temperature.
The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury. Corneal ulceration occurs due to a lack of protective impulses.
Delayed developmental milestones in early years may be observed.
Patients often have severe learning difficulties, irritability, hyperactivity, self-injurious behaviour, and cognitive impairment, NTRK1 is a receptor for nerve growth factor (NGF). This protein induces outgrowth of axons and dendrites and promotes the survival of embryonic sensory and sympathetic neurons. The mutation in NTRK1 does not allow NGF to bind properly, causing defects in the development and function of nociceptive reception., sweat testing, and quantitative sensory testing. It can also be found prenatally, as there has been a heightened awareness for CIPA's autosomal recessive pattern.
Differential diagnosis
The absence of or significantly reduced sweating in CIPA patients can be used for a differential diagnosis,
Treatment
There is no curative treatment for CIPA. Instead, treatment is focused primarily on injury mitigation, physical therapy, and improvement of quality of life. Patients of CIPA should undergo regular orthopedic and temperature monitoring to assess their physical condition. Patients can also wear physical protective gear to prevent unintended injury, such as knee pads, mouthguards, or gloves. Behavioral therapy can also be employed to train individuals affected by CIPA to avoid situations and habits that can lead to injury. Hiring professionals, such as specially trained nurses, is also a useful resource in injury mitigation. Such medical professionals can aid in the case of injury of the affected individual as well as incorporating precautions in the home that aid in avoiding future injuries. Attention to injuries to prevent infection and worsening is necessary. but the patient's anxiety might still need to be alleviated in these cases.This can be life-threatening as these infections can progress in severity under the radar if not attended to timely. Bradycardia, hypotension, and hyperthermia also require management/attention, before, during, and after surgery. The condition is inherited and is most common among Negev Arabs aka Negev Bedouins.
For Japan, the prevalence is estimated at 1/600,000–950,000.. Approximately 20% of people with CIPA die of hyperthermia by age 3.