Recurrent retroperitoneal hemorrhage in a patient with tuberous sclerosis complex: a case report
© Chiarugi et al; licensee BioMed Central Ltd. 2008
Received: 01 December 2008
Accepted: 30 December 2008
Published: 30 December 2008
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder. It is characterized by seizures, mental retardation and hamartomatous lesions, including facial angiofibroma, subependymal giant cell astrocytoma, cardiac rhabdomyoma and renal angiomyolipoma (AML). AMLs can bleed severely in the retroperitoneal space.
Herein, we present the case of a TSC patient presenting with recurrent severe episodes of retroperitoneal hemorrhage from AMLs successfully managed by angio-embolization.
Transarterial embolization is effective in preventing and controlling hemorrhage in patients with AMLs of the kidney
Tuberous sclerosis complex (TSC) or Bourneville's disease is a rare genetic disorder, either sporadic or inherited by an autosomal dominant transmission. Mutations in one of two genes, TSC1 and TSC2, have been identified as causes of TSC. Affected patients develop hamartomatous lesions in different organs, most commonly in the brain, eyes, heart, kidney, skin and lungs. Angiomyolipomas (AML) of the kidney are the most common TSC lesion, occurring in 70 to 80% of adults and older children. These lesions can be a bleeding source.
The three major renal manifestations of TSC include AML and less frequently polycystic kidney disease (PKD) and renal cell carcinoma (RCC), arising alone or in combination. Of these, however, only AML are a major criterion for TSC diagnosis because neither the presence of cysts nor RCC is sufficiently specific for TSC. Angiomyolipomas are benign tumors composed of abnormal vessels, immature smooth muscle cells and fat cells. Their incidence in the general population is 1–2%, whereas in patients with TSC the incidence of AML has been estimated at 50–80%. In respect to sporadic AML, patients with TSC significantly have multiple and bilateral AML that tend to grow with time. As AML grow, aneurysms develop inside the mass. Bleeding from ruptured aneurysm increases in frequency when tumors become larger than 4 cm. Giant renal AML in Bourneville's syndrome raise a surgical interest because they are a source of life-threatening hemorrhage. Hemorrhage from AML has been reported among the most common causes of death in patients with TSC. Management of AML greater than 4 cm electively identified by imaging series should be balanced between the need to prevent life-threatening bleeding and the issue of preserve as much functional renal parenchyma as possible. For this purpose a variety of methods have been proposed. These include selective renal angiography and embolization, AML ablation by cryotherapy or radiofrequency and partial nephrectomy.[2, 3] In the presence of ongoing bleeding, selective renal embolization is a safe and effective method to achieve hemorrhage control and to reduce the size of AML. This treatment is minimally invasive and preserves renal function. Currently, embolization is proposed as the first choice of intervention for symptomatic AMLs or to prevent hemorrhage when AMLs exceed 4 cm in diameter.[4, 5] Patients with TSC have however a 40% recurrence rate of symptomatic AMLs with a median time interval from embolization to recurrence of approximately 79 months. As genes mutations in TSC result in activation of the mammalian target of rapamycin (mTOR), therapy with sirolimus, a suppressor of the mTOR signaling, has been recently implemented in order to reduce the size of AML and to prevent retroperitoneal bleeding. As result of the treatment, AMLs regressed during the therapy but increased again once the therapy was stopped. Some severe adverse events from sirolimus also were reported. Thus, so far, the role of mTOR suppressors in preventing hemorrhage from AML seems to be very promising, but yet, it cannot be considered as standard of care. Most of TSC patients presenting with recurrence and of re-bleeding may be first safety and effectively managed by redo angio-embolization. However some patients with repetitive renal bleeding will eventually require a nephrectomy. For these cases combined nephrectomy and pre-emptive renal transplantation may be the procedure of choice, as it removes the risk of severe bleeding and represents definitive treatment.
Transarterial embolization is effective in preventing and controlling hemorrhage in patients with AMLs of the kidney. When AMLs are associated to TSC, recurrence of bleeding is not uncommon and redo angio-embolization may be required.
Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
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