Review for 10.1186/1471-230X-3-28 (2003)

Reviewer's report 
 Anorectal motility in patients with achalasia of the esophegus: recognition of an Title: 
esophago-rectal syndrom 
Authors: 
Prof Ahmed A Shafik ( ashafik@ahmedshafik.org )
 1  23 Apr 2003 Version: Date: 
 Andreas J J Eherer Reviewer: 
 A paper whose findings are important to those with closely related research Level of interest: 
interests 
 Unable to decide on acceptance or rejection until the authors have Advice on publication: 
responded to the compulsory revisions 
Achalasia is considered to be a disease which is restricted to the esophagus. Dr. Shafik's paper is 
the first report which speculates that achalasia might be involved in a more generalized pathogenetic 
process affecting the anal sphincter and rectum as well. The relatively high frequency of Egyptian 
patients with defecation and swallowing problems is remarkable, before accepting an 
"esophago-rectal syndrome" a few questions need to be clarified, otherwise the observations remain 
as an amazing association between an upper and lower GI problem. 
Major comments: 
1.) Epidemiology: It is not quite clear under which circumstances patients sought medical help for 
their problems. In the paper it was stated that 194 patients with constipation were evaluated. Only 6/9 achalasia patients, however, were constipated. Does this mean, that 3 achalasia patients were included for other reasons than constipation. Is Dr. Shafik's lab the main referral center for achalasia 
patients in Cairo? If not, can an estimation be given for the incidence of achalasia in Cairo or Egypt. 
These numbers are relevant for the practical importance of Dr. Shafik's obsevation. For example in my manometry lab in Graz I myself overlook about 100 achalasia patients within the last years. When taking histories, patients never complained of constipation. But I may have overlooked this 
problem or the problem may have been masked by the swallow disorder. I am also aware that 
achalasia patients in their disease details differ that much from each other, that a multifactorial pathogenesis can be proposed. Perhaps Dr. Shakif's patients represent one subgroup of patients. The observations were made retrospectively. The author should provide an outlook on potential, 
future prospective studies. 
2.) Terminology: Strainodynia is a term invented by the author 10 years ago. Unfortunately this term 
is not used for clinical purposes. I, therefore, suggest to use another generally accepted term (for 
example one from the AGA medical position statement: Guidelines on constipation. G. Richard 
Locke, III, John H. Pemberton, Sidney F. Phillips, Gastroenterology 2000). 
3.) Pathogenesis: In the discussion the author wants to bypass critical questions by asking even 
more questions. The known theories of the pathogenesis of achalasia, however, need to be 
discussed. The author excludes Hirschsprung's disease to play a possible role in the presented 
patients. Can a short segment Hirschsprung's reliably be excluded to be part of the pathogenesis? In 
addition to Hirschsprung's disease also acquired aganglinosis caused by cytomegalovirus or 
ischemia could play a role. 
4.) Diagnosis of rectal and esophageal aganglionosis: The ganglia within the muscle layers are 
those that are responsible for the missing opening on demand. With normal forceps biopsy the 
muscle layers (muscularis propria) cannot be reached, a suction device would be needed to obtain parts of the muscle. In achalasia biopsies are not part of the diagnosis. For rectal biopsies the situation is more complicated because even under normal conditions there is a paucity of ganglion 
cells for at least 1-1.5 cm above the anorectal margin. (J Pediatr. Surg 1969, 4:410.415). For Dr. 
Shafik's paper the method and exact localisation of the biopsies need to be specified. Furthermore the workup of the specimens should be described in more detail. Perhaps staining other than HE should be performed (a silver imprignation or something similar) to improve visibility of neuronal 
structures. Moreover, for me Figure 1 looks like connective tissue, maybe the muscle und the 
location of expected neuronal structures could be marked by an arrow. Also a second figure with regular ganglia for comparison would be very helpful. With respect to all problems with biopsies for the detection of ganglia the description and 
photographs should focus much more on the rectal myectomy specimens, which were excised for 
treatment and which can be considered as representative material. 
5.) Practical and clinical implications: No comments were given, whether the observations could 
result in changes in clinical routine. Should every achalasia patient be examined or at least asked for 
constipation, and vice verse every constipated patient for swallow disorders? 
Competing interests: 
None declared.