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Gastrointestinal Complications of the Ehlers- Danlos Syndrome

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Gastrointestinal Complications of the Ehlers- Danlos Syndrome Gut: first published as 10.1136/gut.10.12.1004 on 1 December 1969. Downloaded from Gut, 1969, 10, 1004-1008 Gastrointestinal complications of the Ehlers- Danlos syndrome PETER H. BEIGHTON1, J. LAMONT MURDOCH2, AND THEODORE VOTTELER3 From Johns Hopkins Hospital, Baltimore, USA SUMMARY The gastrointestinal abnormalities encountered in 125 patients with the Ehlers-Danlos syndrome have been described. Spontaneous perforation of the intestine and massive gastrointestinal haemorrhage are uncommon but potentially lethal complications of the Ehlers-Danlos syndrome. Less dangerous abnormalities, such 'as external hernia, hiatus hernia, eventration of the diaphragm, intestinal diverticula, and rectal prolapse were all encountered in patients in the series. Abdominal surgery in affected patients may be made difficult by fragility of tissues and a bleeding tendency. In the postoperative period, tearing out of sutures and wound dehiscence may occur. Although the Ehleis-Danlos syndrome is uncommon, TABLE I affected individuals may be readily recognized by GASTROINTESTINAL COMPLICATIONS IN 125 PATIENTS WITH the hypermobility of the joints, the hyperexten- THE EHLERS-DANLOS SYNDROME sibility of the skin, and the wide, thin scars that Complication Number ofPatients frequently oveilie the bony prominences. Bleeding http://gut.bmj.com/ The fragility and laxity of tissue are not confined Severe haematemesis and melaena 6 to the dermis, and the gastrointestinal tract may Peptic ulceration 3 Hiatus hernia also be involved. These features, together with a No demonstrable lesion 2 bleeding tendency of variable severity, place patients Melaena from colonic diverticula 2 at risk from a variety of gastrointestinal compli- External haemorrhoids 8 Skin splitting at the anal margin 5 cations. Jejunal intramural haemorrhage In a survey in England, the USA, and Canada, Perforation ofthe colon (spontaneous) 125 patients with the Ehlers-Danlos syndrome were Intestinal obstruction (strangulated femoral hernia) on September 26, 2021 by guest. Protected copyright. examined (Beighton, 1970). The purpose of this Prolapse ofthe rectum during infancy 4 Stuctural abnormalities before operative repair paper is to discuss the gastrointestinal complications Bilateral inguinal hernia 3 that occurred in these individuals. Spontaneous Unilateral inguinal hernia 9 intestinal perforation is a rare but dangerous Unilateral femoral hernia 2 Umbilical hernia 10 complication of the syndrome, and two patients in Incisional hernia in old abdominal operation scar 2 whom abdominal emergencies took place are described in detail to illustrate a possible mechanism abnormalities were much more common but con- for this hazard. siderably less dangerous (Tables I and II). Gastrointestinal bleeding occurred in eight PRESENT INVESTIGATION patients. Of these, six had severe haematemesis and melaena. In one of them this was associated with a The most important gastrointestinal complications hiatus hernia, while peptic ulceration, which was which occurred in the patients in the series were probably unrelated to the Ehlers-Danlos syndrome, intestinal perforation and haemorrhage. However, was incriminated in three others. In the remaining these complications were infrequent. Structural two, bleeding of moderate severity occurred in the Present addresses: absence of any demonstrable lesion. 'St Thomas' Hospital, London, SEl 'Loma Linda Hospital, California, USA Two other patients had milder episodes of melaena 'Dallas, Texas which were attributed to colonic diverticula. 1004 Gut: first published as 10.1136/gut.10.12.1004 on 1 December 1969. Downloaded from Gastrointestinal complications of the Ehlers-Danlos syndrome 1005 TABLE II fragility of the tissue but the final results were- GASTROINTESTINAL ABNORMALITIES REVEALED BY RADIO- satisfactory. LOGICAL INVESTIGATION In addition to the individuals in the series, the Radiological Abnormality Number ofPatients affected father of one patient perished from massive gastrointestinal bleeding, while herbrother died, at Routine chest radiograph (40 patients) Eventration ofthe diaphragm 1 the age of 32, from a perforation of the bowel. This happened when he jumped off a chair and landed Barium mealfor epigastric discomfort (11 patients) on his heels. Perforation had also taken place Hiatus hernia 3 heavily Gastric diverticula 1 in two other individuals who had died before the Duodenal and jejunal diverticula 1 investigation began, and were not related to the- Bariunm enema (3 patients) patients seen during the survey. Multiple colonic diverticula CASE REPORTS Minor haemorrhage from external haemorrhoids occurred in eight individuals, while a further five CASE 1 L.P. (JHH 1121524), an unmarried white noticed bleeding when the skin of the anal margin school teacher, was born prematurely in 1935. Her split during the passage of a hard stool. precise birthweight was unknown, but she had been a Two episodes of spontaneous colonic perforation small baby. Bilateral talipes equino-varus deformities of the feet were noted at the time of her birth, and these occurred in a young woman. This patient, and were subsequently corrected at operation. another girl who underwent laparotomy which As her childhood progressed, dermal fragility con- revealed severe bleeding into the wall ofthe jejunum, tributed to the formation of papyraceous scars. However, are described in detail in the case reports. this facet of her condition was overshadowed by a severe One patient experienced intestinal obstruction, bruising diathesis. The slightest trauma caused large due to strangulation of a femoral hernia. Several cutaneous ecchymoses, and haematomata frequently other patients reported recurrent, vague, ill-defined developed. On one occasion, she was confined to bed abdominal pains. These had been thought to rep- with a large haematoma in the left calf muscle, after she to had marched in a parade. In spite of thisbleedingtendency, resent episodes of partial obstruction due intus- extraction of teeth had been uneventful, and her menses susception or volvulus but there was no definite were normal in quantity and duration. evidence to support this viewpoint. Although the joints were only moderately hyper- Forty of the patients had a routine chest radio- extensible, she had experienced recurrent dislocations of graph, and in these individuals eventration of the the right shoulder, while the left knee joint frequently http://gut.bmj.com/ diaphragm was demonstrated in one, a middle-aged 'locked', possibly due to displacement of the lateral woman. This abnormality produced no symptoms. cartilage. Routine barium studies were not carried out on In 1959 she passed a quantity of bright red blood per the patients in the series, but 11 of them previously rectum, and a few hours later experienced severe abdom- inal pain. At laparotomy, a rent in the sigmoid was, had had barium meals for epigastric discomfort. Of observed. This lesion was 3 in. in length, and involved these, three middle-aged women had been shown all layers of the intestinal wall. The surgeon commented to have a hiatus hernia. Their symptoms were mild upon the remarkable fragility of all the tissues, which cut on September 26, 2021 by guest. Protected copyright. and responded to conservative treatment. Gastric without any apparent resistance, and recorded that a diverticula had been demonstrated in one patient considerable amount of bleeding took place from all while duodenal and jejunal diverticula were present layers of the abdominal wall. A colostomy was fashioned in a second patient. Of the three patients who had with some difficulty, as the sutures tore out of the bowel barium enemata, two were shown to have multiple wall 'as easily as if it had been fatty tissue'. Subsequent progress was uneventful, and the colostomy was closed colonic diverticula. nine months later. Repeated prolapse of the rectum had occurred In 1961 a further episode of rectal bleeding preceded a during infancy in four of the patients, but they were second colonic perforation. On this occasion, a round all free from this complication by the age of 4 or hole, a quarter of an inch in diameter, was located in the 5 years. sigmoid colon, proximal to the previous lesion. The External herniae were frequently encountered, and, operation was complicated by bleeding and tissue before operative repair, three patients had bilateral friability, and on the eighth postoperative day, a quantity inguinal herniae while nine had unilateral inguinal of pus was evacuated transvaginally from the pouch of herniae. Similarly two patients had femoral herniae, Douglas. She eventually recovered completely, but the 10 had umbilical herniae, and two had incisional abdominal operation scars became distracted. In 1965 severe headache led to the diagnosis of a herniae in the scars ofprevious abdominaloperations. subarachnoid haemorrhage. Angiographic investigations Two patients had operations for peptic ulceis. were not carried out, because of the dangers of vascular These operations were difficult because of the fragility. Once again, recovery was complete. Gut: first published as 10.1136/gut.10.12.1004 on 1 December 1969. Downloaded from 1006 Peter H. Beighton, J. Lamont Murdoch, and Theodore Votteler Her parents and two elder sisters were normal, and palms was finely wrinkled but she had only a moderate none of the other members of the kindred had any degree of dermal hyperextensibility. stigmata of the Ehlers-Danlos syndrome. There was no The joints were not hyperextensible, except
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