The effects of everolimus on tuberous sclerosis-associated lesions can be dramatic but may be impermanent

• Published in: Pediatric nephrology (Berlin, West) West), 2015, Vol.30 (1), p.173-177
• Main Authors: Miller, Joseph M., Wachsman, Ashley, Haker, Katherine, Majlessipour, Fataneh, Danielpour, Moise, Puliyanda, Dechu
• Format: Article
• Language: English
• Subjects: Adolescent; Brief Report; Convulsions & seizures; Diagnosis; Drug therapy; Everolimus; Genetic aspects; Humans; Immunosuppressive Agents - therapeutic use; Kidneys; Magnetic resonance imaging; Male; Medicine; Medicine & Public Health; Mortality; Nephrology; Pediatrics; Risk factors; Sirolimus - analogs & derivatives; Sirolimus - therapeutic use; Surveillance; Tuberous sclerosis; Tuberous Sclerosis - drug therapy; Tuberous Sclerosis - pathology; Tuberous Sclerosis - physiopathology; Urology
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-014-2949-6

Background Tuberous sclerosis complex (TSC) predisposes to the development of benign lesions within multiple organ systems, including the brain, kidneys, heart, lungs, and skin. Disease mortality is due to space-occupying subependymal giant cell astrocytomas and hemorrhage-prone renal angiomyolipomas. The recent use of mTORC1 inhibitors, such as everolimus, has allowed for direct targeting of TSC-associated mass lesions without apparent effect on surrounding tissues. Because of the mechanism of these drugs, there is reason to believe that these effects are not durable and that there may be need for continued long-term maintenance therapy. Case-diagnosis/treatment We present a case of TSC-associated mass lesions that were ill-suited for definitive surgical therapy. The patient was started on everolimus, however due to a complex social situation treatment was discontinued and ultimately resumed many months later. Radiologic studies acquired before and after each period of therapeutic onset/cessation reveal the dramatic but impermanent effects of mTORC1 inhibition. Conclusions While everolimus provides a non-invasive way to treat TSC-associated lesions, patients may require lifelong therapy. When termination of therapy is considered, the patient should be made aware of the expectation of potentially dramatic increases in lesion size. If consideration is to be given to definitive surgical therapy, it should be pursued while the patient is still on the medication, or at least soon after treatment is halted.