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Type IV Ehlers-Danlos syndrome: a surgical emergency
  1. Z Soonawalla1,
  2. F M Pope2,
  3. M Puntis1
  1. 1Department of Surgery, University Hospital of Wales, Cardiff, UK
  2. 2Department of Dermatology, West Middlesex University Hospital, Isleworth and Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK
  1. Correspondence to:
 Mr Zahir Soonawalla, Hepatobiliary and Liver Transplant Unit, Queen Elizabeth Hospital, Edgbaston, Birmingham B15 2TH, UK;
 soonawalla{at}aol.com

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Answers on p 506.

A 35 year old man was admitted with abdominal pain, distension and vomiting for three days, and haematochezia for one day. He was known to have type IV Ehlers-Danlos syndrome, and this had previously caused an intracerebral bleed and spontaneous haemopericardium. He also had a past history of ulcerative colitis controlled by azathioprine. On examination, he was dehydrated, with a temperature of 38°C and pulse of 110 beats/min. The abdomen was distended and diffusely tender, but was not guarded. Blood tests revealed a low white cell count, with normal renal chemistry and coagulation profile. An erect chest radiograph was taken (fig 1), after which he underwent emergency laparotomy. A postoperative computed tomogram of the abdomen was ordered (fig 2).

Figure 2

Abdominal computed tomogram.

The patient recovered from this operation and stopped bleeding into his retroperitoneum. Seventeen days later, he developed sudden abdominal pain from perforative peritonitis. Relaparotomy revealed a free perforation of the sigmoid colon. Bleeding that necessitated splenectomy and packing complicated the surgery. He was administered fresh frozen plasma, cryoprecipitate, trasylol, tranexamic acid, and vitamin K in an effort to correct the bleeding tendency. The abdominal packs were subsequently removed and the abdomen was closed. The patient was weaned off the ventilator, but died nine days after his second laparotomy of an extensive myocardial infarction.

Histology of the excised colon showed attenuation of the muscularis propria with no evidence of active colitis, confirming that the spontaneous perforation was due to Ehlers-Danlos syndrome and not the result of ulcerative colitis.

QUESTIONS

  1. What is seen on the chest radiograph?

  2. Comment on the history and computed tomogram.

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