Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

Abstract

Objective: Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. Materials and Methods: From 1995 to 2005, 7 patients with KTWS were evaluated and the charts of these patients were reviewed. Results: Patients' median age was 19-years (range 4 to 46-years) and only 1 was female. The clinical presentation included genital deformities in 3 cases, hematuria in 2 and urethrorragia in 2, one of which associated with cryptorchidism and phimosis. Three patients had an association of pelvic and genital malformations, including 2 patients with hematuria due to vesical lesions and 1 patient with left ureterohydronephrosis due to a pelvic mass. Two patients had urethral lesions. Treatment included endoscopic laser coagulation for 1 patient with recurrent hematuria and 1 patient with urethrorrhagia, pelvic radiotherapy for 1 patient with hematuria and circumcision in 2 patients with genital deformities. One patient required placement of a double-J catheter to relieve obstruction. Hematuria and urethrorragia were safely and effectively controlled with laser applications. Circumcision was also effective. The patient treated with radiotherapy developed a contracted bladder and required a continent urinary diversion. Conclusions: Urogenital involvement in patients with KTWS is not rare and must be suspected in the presence of hematuria or significant cutaneous deformity of the external genitalia. Surgical treatment may be warranted in selected cases.

KTWS (Klippel‐Trenaunay‐Weber syndrome): A systematic presentation of a rare disease

“…Urogenital involvement in these patients is not very rare and shows itself with hematuria or changes in the skin of the external genitalia 16 …”

“…2 Urogenital involvement in these patients is not very rare and shows itself with hematuria or changes in the skin of the external genitalia. 16 Among the rare associations of KTWS is glioblastoma multiforme (grade IV astrocytoma). 17 Also hemi-megalencephaly, characterized by the enlargement of all or part of the hemispheres of the brain, is in rare cases associated with KTWS.…”

Recurrent hematuria involving urinary system with Klippel-Trenaunay syndrome: A case report

“…Trigone of the bladder is rarely involved. [ 13 ] Abnormal development of lymphatic vessels can be manifested as lymphangiomatous changes or recurrent erysipelas. The main principle of bladder hematuria is that the abnormally thickened permanent ischial vein in KTS patients causes pelvic vein overload, hindering internal iliac vein return, and eventually thickening and rupturing the bladder vein.…”

A case report of multiple renal aneurysms due to Klippel-Trenaunay syndrome requiring laparoscopic nephrectomy

“…Renal artery aneurysms are rare, and it is generally accepted that repair should be considered for those with a >2 cm aneurysm [14] . Clinical presentation of aneurysm varies too, often they are asymptomatic, found on autopsy reports but can present with flank pain and haematuria – as was the case here [15] .…”

“…The nephrectomy itself was carried out by Urologist with Vascular surgeons on standby. During MDT discussions there was consideration of embolization by the Interventional Radiology – there is precedence for this as described in a previous report where a giant renal artery aneurysm, commonly treated with nephrectomies, have been treated with embolization [7] , [14] . Previously, only if these measures fail or are bound to fail, did the patient undergo resection, as was the decision here [8] .…”