To (1) characterize disease burden and extent of organ involvement in a cohort of adult tuberous sclerosis complex (TSC) patients and (2) describe risk of renal hemorrhage in those with documented angiomyolipomas (AMLs).

TSC is a neurogenetic disorder that manifests with epilepsy, cognitive dysfunction, and benign tumors of the eye, brain, heart, lung, and kidneys. A feared complication of renal lesions is risk of hemorrhage, which historically was higher in TSC-associated AMLs than sporadic lesions.

Adult TSC patients from the Wake Forest Comprehensive Tuberous Sclerosis Clinic were retrospectively enrolled. Data was obtained on clinical manifestations, imaging findings, and prior treatments including detailed assessment of brain and renal burden over time. High-risk renal lesions were considered if size>3 cm, declining renal function, growth on serial imaging, and lipid-density. Descriptive statistics were performed to report TSC manifestations and quantify renal hemorrhage risk.

33 patients were enrolled; mean age 40+12.8 years; 48% male. Clinical manifestations of TSC included: 88% with epilepsy, 73% skin involvement, 60% renal AML, 58% either subependymal nodule or giant cell astrocytoma, 42% with TS-associated neuropsychiatric disorder, 21% with lung lymphangioleiomyomatosis, 15% prior heart involvement, 12% eye involvement, and 52% with family history. Renal lesions were monitored for a total of 614 months, an average of 30.7+30.6 months/patient; 58 scans reviewed over 10/25/2010 – 8/15/19. In these patients, 70% had an AML >3 cm, 15% declining renal function, and 40% evidence of AML growth. Two patients had pre-existing renal hemorrhage but no patient developed new hemorrhage regardless of AML risk status.

In this representative single-institution cohort of adult TSC patients, disease burden was heterogeneous. Common manifestations of the disease were epilepsy, cerebral lesions, skin manifestations, and renal AMLs. Renal hemorrhage risk was low even in patients with AMLs >3 cm, declining renal function, and AML growth.