Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders due to mutations of the connective tissue genes. It is characterized by the triad of skin hyperelasticity, joint hypermobility, and connective tissue fragility. A 50-year-old man presented with acute clot hematuria and dysuria with no preceding trauma. He had a background of EDS and chronic lower urinary tract symptoms secondary to benign prostatic hyperplasia. The diagnosis of extraperitoneal bladder rupture was made on imaging. This is the first known reported case of spontaneous bladder rupture in an adult with EDS, although there have been 2 reports of children who spontaneously ruptured a bladder diverticulum. We suggest that patients with EDS and evidence of bladder outlet obstruction should be managed closely. Early surgical intervention may be needed. Care should also be taken so that the bladder is not overdistended during cystoscopic procedures.
Jeremiah de Leon, Shuo Liu, Wan Yi Ng, Roy McGregor, Vincent Tse
Submitted January 19, 2011 - Accepted for Publication January 31, 2011
KEYWORDS: Bladder rupture; Ehlers Danlos syndrome; Benign prostatic hyperplasia
CORRESPONDENCE: Shuo Liu, Department of Urology, Concord Repatriation General Hospital, Hospital Road, Concord, Sydney, NSW 2139, Australia ().
CITATION:UroToday Int J. 2011 Jun;4(3):art29. doi:10.3834/uij.1944-5784.2011.06.03
ABBREVIATIONS AND ACRONYMS: EDS, Ehlers-Danlos syndrome; TURP, transurethral resection of the prostate.
INTRODUCTION
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders due to mutations of the connective tissue genes, 9 of which have been identified [1]. It is characterized by the triad of skin hyperelasticity, joint hypermobility, and connective tissue fragility. The estimated prevalence of EDS is 1 in 5000. We report the first known case of a spontaneous bladder rupture in an adult male with EDS.
CASE REPORT
A 50-year-old male with Type VIII EDS presented to the hospital emergency room with a 2-day history of clot hematuria and dysuria. He had a past history of mixed obstructive and irritative lower urinary tract symptoms secondary to benign prostatic hyperplasia. Finasteride and tamsulosin had been prescribed 5 months previously, but he had minimal improvement. There was no recent history of trauma or urological procedure.
On physical examination, the patient was hemodynamically stable. He had a painful, palpable bladder but no peritonism. Creatinine was elevated at 172 µmol/L; hemoglobin was normal.
A noncontrast computed tomography (CT) revealed bilateral hydroureteronephrosis that extended down to a distended bladder, with a moderately sized collection of fluid in the retropubic space (Figure 1a ; Figure 1aFigure 1b). A subsequent cystogram confirmed an anterior extraperitoneal bladder rupture with bilateral vesicoureteric reflux and calyceal clubbing (Figure 2) . A large filling defect (suggestive of hematoma) was also seen within the bladder.
The patient was diagnosed with spontaneous extraperitoneal bladder rupture secondary to chronic urinary retention on the background of EDS. An 18-Fr 3-way catheter was inserted for drainage and gentle bladder washout. Renal function normalized within 2 days and the hematuria resolved by day 3. He was then discharged home with the catheter left in situ. He was given a course of an oral prophylactic antibiotic.
A cystoscopy was performed 2 weeks later. It revealed a normal urethra and a moderately occlusive prostate. There was some mucosal edema at the site of the previous rupture, although the rupture had healed. No bladder diverticulum was identified. A transurethral resection of the prostate (TURP) was subsequently performed. We did not perform a biopsy of the bladder, although such confirmation of EDS may provide information relevant to the risk of recurrent rupture. Postoperatively, the patient made an uneventful recovery and was able to void on postoperative day 2.
DISCUSSION
Spontaneous perforation of the bladder is a very rare phenomenon. Common predisposing factors include malignancy, trauma, urinary retention, and intrinsic bladder wall weakness. Two cases have been described previously in children with EDS who spontaneously ruptured a bladder diverticulum [2,3]. Our case is the first known report of atraumatic bladder rupture in an adult with EDS.
Bladder problems in patients with EDS are uncommon; bladder diverticulae are the most prevalent [3,4,5,6,7,8]. The exact underlying pathophysiology is unclear. In 1999, Deveaud et al [9] used histopathological examination to compare normal bladders with those of patients with EDS. They observed structural anomalies in certain types of collagen tissue in the patients with EDS. In addition, the collagen in patients with EDS also displayed abnormal distributional changes within the basement membrane surrounding individual muscle cells. The authors speculated that these intrinsic changes may have reduced both the structural integrity and muscle tone of the bladder wall, thereby increasing the likelihood of diverticulum formation and spontaneous rupture.
The management strategy for bladder perforation depends largely on the nature of the injury [10]. Active surgical intervention with wound debridement and closure is usually reserved for more unstable patients with intraperitoneal rupture. Our patient was clinically well with no peritonitic signs. The extraperitoneal nature of the perforation allowed for a more conservative approach with simple catheter drainage and close clinical monitoring.
Our case highlights a potential urological complication in patients with EDS. We postulate that the weakened bladder wall leaves them more susceptible to bladder overdistension and acute rupture when the bladder is placed under pressure. We suggest that patients with EDS showing evidence of bladder outlet obstruction should be managed closely. Early surgical intervention may be needed. Care should also be taken so that the bladder is not overdistended during cystoscopic procedures. In our patient, TURP was performed without intraoperative or postoperative complications.
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