Congenital insensitivity to pain with anhidrosis

A rare genetic disorder affecting pain perception and sweating

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by the inability to feel pain and the absence of sweating. It is a type of hereditary sensory and autonomic neuropathy (HSAN), specifically classified as HSAN type IV. This condition is caused by mutations in the NTRK1 gene, which encodes the neurotrophic tyrosine kinase receptor type 1.

Clinical Features

Individuals with CIPA are unable to perceive pain, which can lead to severe injuries and health complications. The lack of pain sensation means that affected individuals may not respond to injuries, burns, or other harmful stimuli, leading to repeated trauma and self-mutilation.

Another hallmark of CIPA is the inability to sweat, known as anhidrosis. This can result in hyperthermia, as the body cannot regulate its temperature effectively. Patients may experience fevers and overheating, especially in hot environments.

Genetics

CIPA is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The NTRK1 gene provides instructions for making a protein that is essential for the development and survival of nerve cells that transmit pain, temperature, and touch sensations. Mutations in this gene disrupt the normal function of these nerve cells, leading to the symptoms of CIPA.

Diagnosis

Diagnosis of CIPA is based on clinical evaluation, family history, and genetic testing. The absence of pain perception and sweating, along with recurrent injuries and fevers, are key indicators. Genetic testing can confirm mutations in the NTRK1 gene.

Management

There is no cure for CIPA, and management focuses on preventing injuries and managing symptoms. Patients require careful monitoring to avoid injuries and overheating. Protective measures, such as wearing helmets and padding, can help prevent trauma. Regular medical check-ups are essential to monitor for complications.

Prognosis

The prognosis for individuals with CIPA varies. With careful management, some individuals can lead relatively normal lives, but the risk of severe complications remains high. Early diagnosis and intervention are crucial to improving outcomes.

Related pages

• Hereditary sensory and autonomic neuropathy
• NTRK1 gene
• Autosomal recessive disorder