Tuberous Sclerosis and Bilateral Renal Angiomyolipomas: A Case Report and Literature Review of Emerging Treatment Strategies

Abstract EN

Tuberous sclerosis complex is a rare multisystemic genetic disorder associated with the development of benign hamartomas.

Angiomyolipomas are one such characteristic finding that may be seen in 55–80% of tuberous sclerosis complex patients.

While being normally asymptomatic, they can also cause significant morbidity and mortality.

We present the case of a patient with tuberous sclerosis complex and recently discovered bilateral renal angiomyolipomas, admitted for hematuria who underwent left renal artery embolization; however, worsening renal function necessitated subsequent nephrectomy.

Despite still being mainstays of treatment, invasive interventions are now being recommended for specific patient populations as demonstrated in our case.

Emerging strategies targeting the PI3K/AKT/mTOR pathway have been shown to reduce the size of angiomyolipomas and are now used to treat asymptomatic cases >3 cm.

Our review discusses these treatment options with the intention of increasing awareness of current recommendations and hopefully leading to increased application of these novel therapies that will reduce the need for invasive interventions.