Paroxysmal extreme pain disorder

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Paroxysmal Extreme Pain Disorder (PEPD), also known as Hereditary Rectal Pain Syndrome or Familial Rectal Pain Syndrome, is a rare genetic disorder characterized by severe episodes of pain in various body regions.

Pronunciation

Paroxysmal: /pærɒkˈsɪzməl/ Extreme: /ɪkˈstriːm/ Pain: /peɪn/ Disorder: /dɪsˈɔːrdər/

Etymology

The term "Paroxysmal Extreme Pain Disorder" is derived from the Greek word "paroxysmos" meaning "irritation" or "fit", the Latin word "extremus" meaning "outermost" or "last", and the Latin word "disorder" meaning "lack of order".

Definition

Paroxysmal Extreme Pain Disorder (PEPD) is a condition that is characterized by skin redness or flushing, and severe pain in the lower body, particularly the rectum and below the waist. The pain can also affect the jaw and eyes. The episodes of pain can last from seconds to minutes, and can be triggered by factors such as cold, stress, or defecation.

Symptoms

The main symptom of PEPD is severe, episodic pain that can occur in various parts of the body. Other symptoms may include:

Causes

PEPD is caused by mutations in the SCN9A gene. This gene provides instructions for making a protein that is involved in transmitting pain signals from the body to the brain.

Treatment

Treatment for PEPD primarily involves managing symptoms. This may include medications to control pain, such as carbamazepine or oxcarbazepine. In some cases, surgery may be considered to relieve severe pain.

See also

References

External links

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