TuÄ?rul Burak Genç*, Sema Sezgin Göksu, Ahmet Ender Caylan, Ömer Kutlu, Ali Murat Tatlı and Hasan Å?enol CoÅ?kun
Tuberous sclerosis complex is a genetic disorder characterized by the growth of hamartomas virtually any organ in the body. It is a rare disease and caused by mutations in the TSC1 or TSC2 genes. Mammalian rapamycin target pathway inhibitors have proven efficacy in the treatment of the disease. Everolimus treatment is recommended in patients with renal angiomyolipoma associated with tuberous sclerosis complex, even if they are asymptomatic, in the presence of lesions of 3 cm or more.
In this article, we shared the clinical course of 2 patients with renal angiomyolipomas associated with tuberous sclerosis complex followed by everolimus.
The first patient was a 24-year-old male and the second was a 31-year-old female. Both cases diagnosed after ruptured angiomyolipoma
On admission of the first case, multiple renal angiomyolipomas with the largest diameter of 47 mm were detected. With a 10 mg dose of everolimus, an approximately 20% reduction in the lesion was observed in the 3-years follow-up. No drug-related side effects were detected.
In the second case, approximately 20 cm diameter of renal angiomyolipoma was detected at presentation. Everolimus was started at a dose of 10 mg, and the dose was reduced to 5 mg in the first year of treatment due to recurrent grade 2 stomatitis and grade 2 hematological side effects. The patient is followed up as stable disease in the second year.
In conclusion; everolimus is an effective and safe drug in the treatment of tuberous sclerosis-related renal angiomyolipomas. To our knowledge, it seems rational to continue everolimus treatment unless there are unmanageable side effects despite dose reduction and failure of RAML control.
