Which are the symptoms of Congenital Insensitivity To Pain With Anhidrosis (CIPA)?

Congenital Insensitivity to Pain with Anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is a rare genetic disorder that affects the nervous system. It is characterized by the inability to feel pain, inability to sweat, and various other symptoms. CIPA is caused by mutations in the NTRK1 gene, which is responsible for the production of a protein called tropomyosin receptor kinase A (TrkA).

One of the most prominent symptoms of CIPA is the inability to feel pain. Individuals with CIPA cannot sense pain, even in response to potentially harmful stimuli such as injuries, burns, or fractures. This lack of pain perception can lead to repeated injuries and wounds that go unnoticed, increasing the risk of infections and complications.

Another significant symptom of CIPA is anhidrosis, or the inability to sweat. Sweat glands play a crucial role in regulating body temperature, and individuals with CIPA are unable to sweat. This can result in episodes of hyperthermia, where the body overheats due to the inability to cool down through sweating. It is essential for individuals with CIPA to closely monitor their body temperature and take appropriate measures to prevent overheating.

Furthermore, individuals with CIPA may experience delayed motor development due to the lack of pain sensation. Since pain serves as a protective mechanism, children with CIPA may not learn to avoid potentially harmful situations, leading to delayed motor milestones such as sitting, crawling, and walking.

Other symptoms of CIPA may include:

• Reduced or absent reaction to hot or cold temperatures


• Recurrent injuries, wounds, and fractures


• Delayed or absent speech development


• Joint deformities


• Chronic infections


• Impaired sense of taste and smell


• Difficulty swallowing


• Abnormalities in teeth development


• Corneal ulcers and other eye problems

It is important to note that the severity and specific symptoms of CIPA can vary among individuals. Some individuals may have milder forms of the condition, while others may experience more severe complications.

Diagnosis of CIPA is typically based on clinical evaluation, family history, and genetic testing to identify mutations in the NTRK1 gene. Unfortunately, there is currently no cure for CIPA, and treatment primarily focuses on managing symptoms and preventing complications.

Overall, Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare genetic disorder characterized by the inability to feel pain, inability to sweat, and various other symptoms. Early diagnosis and appropriate management are crucial to prevent complications and ensure the well-being of individuals with CIPA.