What's in a name—familial rectal pain syndrome becomes paroxysmal extreme pain disorder

CR Fertleman, CD Ferrie - Journal of Neurology, Neurosurgery & …, 2006 - jnnp.bmj.com
CR Fertleman, CD Ferrie
Journal of Neurology, Neurosurgery & Psychiatry, 2006jnnp.bmj.com
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/entrez/dispomim. 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 …
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/entrez/dispomim. 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,
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