Paroxysmal extreme pain disorder

Paroxysmal Extreme Pain Disorder (PEPD), also known as Familial Rectal Pain Syndrome, is a rare genetic disorder characterized by severe episodes of pain in various parts of the body. The disorder is caused by mutations in the SCN9A gene, which provides instructions for making a protein that is critical for the normal function of nerve cells.

Symptoms

The symptoms of Paroxysmal Extreme Pain Disorder typically begin in infancy and include severe burning pain in the lower body, particularly the rectum and below the waist. Other symptoms may include flushing, sweating, and changes in heart rate and blood pressure. The pain episodes can last from seconds to minutes and are often triggered by bowel movements, eating, stress, or changes in temperature.

Causes

Paroxysmal Extreme Pain Disorder is caused by mutations in the SCN9A gene. This gene provides instructions for making a protein that is critical for the normal function of nerve cells. The protein, called a sodium channel, helps control the flow of sodium ions into cells, which is necessary for the cells to generate and transmit electrical signals.

Diagnosis

The diagnosis of Paroxysmal Extreme Pain Disorder is based on the symptoms and confirmed by genetic testing. The testing can identify mutations in the SCN9A gene that cause the disorder.

Treatment

There is no cure for Paroxysmal Extreme Pain Disorder, but the symptoms can be managed with medications. These may include anticonvulsants, which can help control the pain episodes, and other medications to manage the associated symptoms.

See also

• SCN9A
• Genetic disorder
• Pain management

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