The condition generally known as familial rectal pain syndrome is a rare autosomal dominant disorder that was first described by Hayden and Grossman.1 The term familial rectal pain, was coined by Dugan.2 The OMIM database (http://www.ncbi.nlm.nih.gov/entrezdispomim.cgi?id=167400) uses the term “pain, submandibular, ocular and rectal, with flushing”.
The disorder starts in the neonatal period (possibly in utero) and is lifelong. Its most characteristic clinical features are attacks of excruciating pain that affect various parts of the body, including the rectum, genitalia, face and limbs. In addition, other features reflecting autonomic dysfunction occur, including harlequin colour changes and pupillary abnormalities. Some patients with the disorder experience non‐epileptic tonic seizures during severe episodes of pain. These may be associated with cardiac asystole.
Over the past decade, a worldwide consortium of clinicians, geneticists and scientists have been attempting to find the cause of familial rectal pain and recently discovered that it is caused by mutations in the sodium channel SCN9A.3 The consortium has worked closely with patients affected by the disorder and their families. During this collaboration there was considerable dissatisfaction with the name “familial rectal pain syndrome”.
Consequently, a conference was arranged at the offices of the charity called Contact a Family (http://www.cafamily.org.uk) in London on 6 September 2005. Members of the consortium, along with affected people and their families, debated whether the name should be changed and, if so, to what. Others participated by email.
Whether the condition should be named according to its clinical features or on a more scientific basis reflecting the new knowledge that it is a channelopathy or that it appears to be a disorder principally affecting the autonomic nervous system was discussed initially. All preferred the first approach, partly because it was felt that a name should have meaning for the general public and also for the medical and scientific communities and partly because mutations in the sodium channel have not been found in all those affected with the disorder.
There was near unanimity that the term rectal should be dropped. This was partly because its inclusion seems to imply that the pain is confined to the rectum, when in fact this is only one affected site. In addition, those with the disorder voiced the view strongly that they found the term both stigmatising and embarrassing. Clinicians and those affected generally considered that the term incorrectly implies the condition is gastrointestinal rather than neurological and, as a consequence, those professionals who should be interested in it are often not.
All those involved considered that the term pain should remain. Most clinicians were initially sceptical about qualifying this with words such as severe, extreme or excruciating, often feeling that the use of these would be frightening, especially at diagnosis. Those affected and their families disagreed, arguing that as the condition is associated with episodes of pain that seem to be as severe as anything experienced by man, this must be reflected in the name. Indicating the severity of the pain will emphasise to clinicians the importance of recognising the disorder, particularly as partially effective treatments are available. Finally, after much debate, most considered that the best term to describe the pain was “extreme”.
Clinicians and scientists were of the opinion that as we now understand what causes the condition and know its clinical features and prognosis, the term syndrome is no longer appropriate and that either disease or disorder should be substituted. Those affected and their families preferred the term disorder as being less stigmatising.
Most initially wanted to retain the term familial. There was, however, eventually an agreement to drop it, partly because a five‐word name was considered excessively cumbersome and partly in acknowledgment that sporadic cases also occur.
Whether other features of the disorder, such as the harlequin colour changes and the non‐epileptic tonic seizures, should be reflected in the name was discussed. It was, however, felt that some of these features, such as colour changes, although interesting, have a minor effect on those affected, whereas others, such as seizures, are not universal. Clinicians strongly thought that the episodic nature of the attacks should be reflected in the name. The term paroxysmal was preferred to seizure as this was less likely to lead to confusion with epilepsy.
The name that received most support was paroxysmal extreme pain disorder (PEPD). Given that this name emerged from a democratic process including, as far as we know, most professionals interested in the condition and affected patients and their families from around the world, we consider that henceforth the name “paroxysmal extreme pain disorder” should be used in preference to the obsolete name familial rectal pain (syndrome).