What is the prevalence of Congenital Insensitivity To Pain With Anhidrosis (CIPA)?
How many people does Congenital Insensitivity To Pain With Anhidrosis (CIPA) affect? Does it have the same prevalence in men and women? And in the different countries?
Congenital Insensitivity To Pain With Anhidrosis (CIPA) is an extremely rare genetic disorder characterized by the inability to feel pain and the inability to sweat. It is estimated that the prevalence of CIPA is approximately 1 in 1 million individuals worldwide. This condition is caused by mutations in the NTRK1 gene, which is responsible for the development and function of nerve cells. CIPA is a life-threatening condition as individuals with this disorder are unable to sense pain, leading to injuries and infections that often go unnoticed. Early diagnosis and management are crucial for individuals with CIPA to prevent complications and ensure their well-being.
Congenital Insensitivity To Pain With Anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is an extremely rare genetic disorder that affects the nervous system. It is estimated to occur in approximately 1 in every 125,000 to 1 in every 1 million births. CIPA is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Individuals with CIPA have a complete inability to feel pain, which can lead to severe injuries and health complications. Additionally, they are unable to sweat, resulting in anhidrosis, which can lead to overheating and difficulty regulating body temperature. Other symptoms may include delayed motor development, self-mutilating behaviors, and dental problems.
Due to its rarity, CIPA often goes undiagnosed or misdiagnosed, making it challenging to determine the exact prevalence. However, it is more commonly reported in certain populations, such as the Japanese and Israeli Bedouin communities, where the prevalence may be slightly higher.
While there is currently no cure for CIPA, management focuses on preventing injuries, maintaining body temperature, and addressing associated symptoms. Genetic counseling is crucial for families with a history of CIPA to understand the risks and make informed decisions.
