[2][3] The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury.
[4] Joint and bone problems are common due to repeated injuries, and wounds heal poorly.
[6] CIPA is caused by a genetic mutation that prevents the formation of nerve cells responsible for transmitting signals of pain, heat, and cold in the brain.
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.
[4][8][3] Diagnosis is made based on clinical criteria, supported by nerve biopsy findings of reduced unmyelinated and small myelinated fibres, and can be confirmed with genetic testing.