Acute Appendicitis
in the Ehlers-Danlos Syndrome
J. R. Hulme, MA, BM, BCh, Basingstoke, Hampshire, England C. C. Wilmshurst, MRCS, Torquay, Devonshire, England
The Ehlers-Danlos syndrome is an uncommon familial disorder of connective tissue. The patients have hyperextensible skin, hypermobile joints, and fragile tissues and may also have a bleeding diathesis [I]. Acute appendicitis, on the other hand, is an extremely common ailment. A search of the literature concerning the Ehlers-Danlos syndrome reveals only five reported cases of appendectomy in patients with this syndrome [Id]. In none of these reports are the pathologic features of the appendix mentioned. We report on a patient with Ehlers-Danlos syndrome who underwent appendectomy for acute appendicitis, and we discuss why, according to the current views on the etiology of acute appendicitis, it should be rare in patients with the Ehlers-Danlos syndrome. Case Report A fiiteen year old boy was admitted with a typical history of acute appendicitis. The day before admission he had central colicky abdominal pain, vomited eight times, spent an uncomfortable night, and awoke in the morning with continuous pain in the right iliac fossa. Examination revealed a coated tongue; the abdomen was tender at McBurney’s point, with rebound tenderness and tenderness to the right on rectal examination. Examination of the other systems revealed a third heart sound and a short apical diastolic murmur. Wide papyraceous scars were conspicuous on both knees, the skin was soft to the touch and hyperextensible, and his joints, especially the finger joints, were hypermobile. Temperature was 37.5V!, blood pressure 130/90 mm Hg, pulse rate 120 beats per minute, hemoglobin 14.1 gm/lOO ml, erythrocyte sedimentation rate 39 mm in the first hour, packed cell volume 43 per cent, and white blood cell count 8,900 cells per mm3. The diagnosis of Ehlers-Danlos syndrome and the provisional diagnosis of acute appendicitis were made and exploration was undertaken. Through an oblique right gridiron incision on acutely inflamed unruptured pelvic appendix was removed, and local peritoneal and pelvic fluid sucked out. No fecoliths were detected within the appendix. The closure, except for the skin, was secured with polyglycolic acid sutures because of the fragility of the tissues. The skin was stitched with interrupted nylon suFrom Basingstoke District Hospital, Basingstoke, Hampshire, and TortJay Hospital, Torquay, Devonshire, England. Reprint requests should be addressed to J. R. Hulma, Basingstoke District Hospital, Basingstoke, Hampshire. England.
Volume 132. July 1979
tures. The appendix and biopsies of skin, subcutaneous tissue, internal oblique muscle, external oblique aponeurosis, and peritoneum were sent for histologic examination. It was noticeable at operation not only how elastic the skin was but also the muscle and peritoneum-it felt like operating through porridge. The pathology report described an indurated congested appendix measuring 6 by 1.2 cm. There was thin pus on the surface, the wall was soft and thin, and the lumen contained purulent material. Histology of the appendix showed suppuration and necrosis of all layers. The other tissues revealed no diagnostic features. The postoperative course was complicated by a purulent swelling under the incision. While on a short course of oral penicillin, this swelling ruptured, discharging sterile pus. The wound subsequently healed normally. A year later his scar had remained healed without any stretching. Comments
Acute appendicitis is a disease of modern civilization. Burkitt [6,7] argues from the geographic distribution of appendicitis and its prevalence in economically developed countries, that the change from high- to low-residue diet is largely responsible for this disease. A cellulose-depleted diet not only slows fecal transit time, but also results in firmer and more tenacious stools which are considerably reduced in bulk, and which in turn lead to high intraluminal pressures and altered bacterial content, It is postulated that inspissated fecal material or fecoliths block the mouth of the appendix, like a ball valve. If, as in the Ehlers-Danlos syndrome, the collagen tissue is hyperextensible, one would expect the fol-lowing results: should a fecolith act as a ball valve blocking the mouth of the appendix, the appendicular intraluminal pressure will build up, but since the mouth of the appendix is capable of greater distensibility than normal, the pressure should force the fecolith through, thus removing the ball-valve effect. This would mean that, though the normal factors precipitating acute appendicitis are acting, the hyperextensibility of the mouth of the appendix should decrease the chance of the lumen of the appendix becoming blocked. The abnormality of the collagen in the alimentary tract is well documented. This is shown by the frequency of reports of diverticula not only of the colon,
103
Hulme and Wilmshurst
but also stomach, duodenum, and jejunum [1,8,9]. External hemorrhoids are common as is rectal prolapse and splitting of the skin of the anal margin. Less frequent but more serious complications, apparently related to the stiuctural abnormality of this syndrome, are spontaneous perforation of the bowel and severe gastrointestinal bleeding [IO]. As might be expected, femoral, inguinal, hiatal, and umbilical hernias are common. The five cases of appendectomy reported all leave some doubt about the diagnosis for which the operation was performed. Beighton [I], in describing a case of the benign hypermobile type, mentions that the patient underwent uneventful appendectomy. Jacobs [3] mentions that the brother of the proband had an appendectomy at thirty-seven years of age and at operation the bowel was friable and covered with extensive tissue hemorrhages, No mention is made of the pathology of the appendix, and it is possible that the extensive tissue hemorrhages produced the signs and symptoms upon which the decision to operate was made. McFarland and Fuller [4] describe a thirteen year old patient with a wide appendectomy scar but make no mention of the pathology of the appendix. Packer and Blades [2] describe an appendectomy in a nineteen year old girl with an acute abdomen. Again, no mention is made of the pathology of the appendix. The fact that they used a right lower rectus incision might indicate preoperative&doubt about the diagnosis of acute appendicitis. The case described by Aldridge [5] is particularly interesting. A twenty-four year old woman was admitted with generalized peritonitis resulting from a large perforation of the sigmoid colon. The perforation was closed and a left iliac colostomy was fashioned. This was closed after two months. However, a year later, the patient was readmitted for interval appendectomy after recurrent episodes of appendicitis. Again no mention is made of the pathology of the appendix. As pure speculation, admittedly, one could postulate repeated episodes of inspissated fecal material blocking
104
the mouth of the appendix and, as the intra-appendicular pressure built up, the mouth of the appendix giving way to free the blockage. We argue, in the light of the current views on the etiology of acute appendicitis, that it should be rare in patients with Ehlers-Danlos syndrome. Such cases of acute appendicitis as do occur in this syndrome would be expected in patients with the less pronounced forms of the Ehlers-Danlos syndrome and who have fed on low-residue diets.
Summary
A case of acute appendicitis in a patient with Ehlers-Danlos syndrome is presented. Previous reports of appendicitis in the Ehlers-Danlos syndrome and why acute appendicitis should be rare in this syndrome are discussed. Acknowledgment: We would like to thank Mr A. M. N. Gardner for permission to report this case. We would also like to thank Professor Peter Beighton and Doctor Anthony Bowyer for advice and help. References
5. 6. 7.
8. 9. 10.
Beighton PH: The Ehlers-Danlos Syndrome. London, William Heinemann, 1970, p 23. Packer BD, Blades JF: Dermatorrhexis: a case report-the so-calledEhlers-Danlossy&orw. VaMedMon61: 27;1954 Jacobs PH: Ehlers-Danlos syr@ome: report of a case with onset at age 29. Arch Dermetol76: 460, 1957 McFarland W, Fuller DE: Mortality in Ehlers-Danlos syndrome due to spontaneous rupture of large arteries. N&g/ Med 27 1: 1309,.1964 Aldridge RT: Ehlers-Danlos syndrome causing intestinal perforation. Br J Surg 54: 22, 1967 Burkitt DP: The aetiology of appendicitis. Br J Surg 58: 695, 1971 Burkitt DP, Walker ARP, Painter NS: Effect of dietary fibre on stools and transit times, and its role in the causation of disease. Lancet 2: 1408. 19.72 Beighton PH, Horan FT: Surgical aspects of the Ehlers-Danlos syndrome. Br J Surg 56: 255, 1969 Beighton PH, Murdoch JL, Votteler T: Gastrointestinal complications of the Ehlers-Danlos syndrome. Gut 10: 1004, 1969 Beighton PH: Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3: 656, 1966
The American Journal of Surgery
in the Ehlers-Danlos Syndrome
J. R. Hulme, MA, BM, BCh, Basingstoke, Hampshire, England C. C. Wilmshurst, MRCS, Torquay, Devonshire, England
The Ehlers-Danlos syndrome is an uncommon familial disorder of connective tissue. The patients have hyperextensible skin, hypermobile joints, and fragile tissues and may also have a bleeding diathesis [I]. Acute appendicitis, on the other hand, is an extremely common ailment. A search of the literature concerning the Ehlers-Danlos syndrome reveals only five reported cases of appendectomy in patients with this syndrome [Id]. In none of these reports are the pathologic features of the appendix mentioned. We report on a patient with Ehlers-Danlos syndrome who underwent appendectomy for acute appendicitis, and we discuss why, according to the current views on the etiology of acute appendicitis, it should be rare in patients with the Ehlers-Danlos syndrome. Case Report A fiiteen year old boy was admitted with a typical history of acute appendicitis. The day before admission he had central colicky abdominal pain, vomited eight times, spent an uncomfortable night, and awoke in the morning with continuous pain in the right iliac fossa. Examination revealed a coated tongue; the abdomen was tender at McBurney’s point, with rebound tenderness and tenderness to the right on rectal examination. Examination of the other systems revealed a third heart sound and a short apical diastolic murmur. Wide papyraceous scars were conspicuous on both knees, the skin was soft to the touch and hyperextensible, and his joints, especially the finger joints, were hypermobile. Temperature was 37.5V!, blood pressure 130/90 mm Hg, pulse rate 120 beats per minute, hemoglobin 14.1 gm/lOO ml, erythrocyte sedimentation rate 39 mm in the first hour, packed cell volume 43 per cent, and white blood cell count 8,900 cells per mm3. The diagnosis of Ehlers-Danlos syndrome and the provisional diagnosis of acute appendicitis were made and exploration was undertaken. Through an oblique right gridiron incision on acutely inflamed unruptured pelvic appendix was removed, and local peritoneal and pelvic fluid sucked out. No fecoliths were detected within the appendix. The closure, except for the skin, was secured with polyglycolic acid sutures because of the fragility of the tissues. The skin was stitched with interrupted nylon suFrom Basingstoke District Hospital, Basingstoke, Hampshire, and TortJay Hospital, Torquay, Devonshire, England. Reprint requests should be addressed to J. R. Hulma, Basingstoke District Hospital, Basingstoke, Hampshire. England.
Volume 132. July 1979
tures. The appendix and biopsies of skin, subcutaneous tissue, internal oblique muscle, external oblique aponeurosis, and peritoneum were sent for histologic examination. It was noticeable at operation not only how elastic the skin was but also the muscle and peritoneum-it felt like operating through porridge. The pathology report described an indurated congested appendix measuring 6 by 1.2 cm. There was thin pus on the surface, the wall was soft and thin, and the lumen contained purulent material. Histology of the appendix showed suppuration and necrosis of all layers. The other tissues revealed no diagnostic features. The postoperative course was complicated by a purulent swelling under the incision. While on a short course of oral penicillin, this swelling ruptured, discharging sterile pus. The wound subsequently healed normally. A year later his scar had remained healed without any stretching. Comments
Acute appendicitis is a disease of modern civilization. Burkitt [6,7] argues from the geographic distribution of appendicitis and its prevalence in economically developed countries, that the change from high- to low-residue diet is largely responsible for this disease. A cellulose-depleted diet not only slows fecal transit time, but also results in firmer and more tenacious stools which are considerably reduced in bulk, and which in turn lead to high intraluminal pressures and altered bacterial content, It is postulated that inspissated fecal material or fecoliths block the mouth of the appendix, like a ball valve. If, as in the Ehlers-Danlos syndrome, the collagen tissue is hyperextensible, one would expect the fol-lowing results: should a fecolith act as a ball valve blocking the mouth of the appendix, the appendicular intraluminal pressure will build up, but since the mouth of the appendix is capable of greater distensibility than normal, the pressure should force the fecolith through, thus removing the ball-valve effect. This would mean that, though the normal factors precipitating acute appendicitis are acting, the hyperextensibility of the mouth of the appendix should decrease the chance of the lumen of the appendix becoming blocked. The abnormality of the collagen in the alimentary tract is well documented. This is shown by the frequency of reports of diverticula not only of the colon,
103
Hulme and Wilmshurst
but also stomach, duodenum, and jejunum [1,8,9]. External hemorrhoids are common as is rectal prolapse and splitting of the skin of the anal margin. Less frequent but more serious complications, apparently related to the stiuctural abnormality of this syndrome, are spontaneous perforation of the bowel and severe gastrointestinal bleeding [IO]. As might be expected, femoral, inguinal, hiatal, and umbilical hernias are common. The five cases of appendectomy reported all leave some doubt about the diagnosis for which the operation was performed. Beighton [I], in describing a case of the benign hypermobile type, mentions that the patient underwent uneventful appendectomy. Jacobs [3] mentions that the brother of the proband had an appendectomy at thirty-seven years of age and at operation the bowel was friable and covered with extensive tissue hemorrhages, No mention is made of the pathology of the appendix, and it is possible that the extensive tissue hemorrhages produced the signs and symptoms upon which the decision to operate was made. McFarland and Fuller [4] describe a thirteen year old patient with a wide appendectomy scar but make no mention of the pathology of the appendix. Packer and Blades [2] describe an appendectomy in a nineteen year old girl with an acute abdomen. Again, no mention is made of the pathology of the appendix. The fact that they used a right lower rectus incision might indicate preoperative&doubt about the diagnosis of acute appendicitis. The case described by Aldridge [5] is particularly interesting. A twenty-four year old woman was admitted with generalized peritonitis resulting from a large perforation of the sigmoid colon. The perforation was closed and a left iliac colostomy was fashioned. This was closed after two months. However, a year later, the patient was readmitted for interval appendectomy after recurrent episodes of appendicitis. Again no mention is made of the pathology of the appendix. As pure speculation, admittedly, one could postulate repeated episodes of inspissated fecal material blocking
104
the mouth of the appendix and, as the intra-appendicular pressure built up, the mouth of the appendix giving way to free the blockage. We argue, in the light of the current views on the etiology of acute appendicitis, that it should be rare in patients with Ehlers-Danlos syndrome. Such cases of acute appendicitis as do occur in this syndrome would be expected in patients with the less pronounced forms of the Ehlers-Danlos syndrome and who have fed on low-residue diets.
Summary
A case of acute appendicitis in a patient with Ehlers-Danlos syndrome is presented. Previous reports of appendicitis in the Ehlers-Danlos syndrome and why acute appendicitis should be rare in this syndrome are discussed. Acknowledgment: We would like to thank Mr A. M. N. Gardner for permission to report this case. We would also like to thank Professor Peter Beighton and Doctor Anthony Bowyer for advice and help. References
5. 6. 7.
8. 9. 10.
Beighton PH: The Ehlers-Danlos Syndrome. London, William Heinemann, 1970, p 23. Packer BD, Blades JF: Dermatorrhexis: a case report-the so-calledEhlers-Danlossy&orw. VaMedMon61: 27;1954 Jacobs PH: Ehlers-Danlos syr@ome: report of a case with onset at age 29. Arch Dermetol76: 460, 1957 McFarland W, Fuller DE: Mortality in Ehlers-Danlos syndrome due to spontaneous rupture of large arteries. N&g/ Med 27 1: 1309,.1964 Aldridge RT: Ehlers-Danlos syndrome causing intestinal perforation. Br J Surg 54: 22, 1967 Burkitt DP: The aetiology of appendicitis. Br J Surg 58: 695, 1971 Burkitt DP, Walker ARP, Painter NS: Effect of dietary fibre on stools and transit times, and its role in the causation of disease. Lancet 2: 1408. 19.72 Beighton PH, Horan FT: Surgical aspects of the Ehlers-Danlos syndrome. Br J Surg 56: 255, 1969 Beighton PH, Murdoch JL, Votteler T: Gastrointestinal complications of the Ehlers-Danlos syndrome. Gut 10: 1004, 1969 Beighton PH: Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3: 656, 1966
The American Journal of Surgery
