ABSTRACT
OBJECTIVE: To estimate the prevalence of renal angiomyolipomas (AMLs) and AML-related bleedings among patients with tuberous sclerosis complex and to gather information about associated treatments. METHODS: A questionnaire survey was undertaken by the French Reference Centre for Tuberous Sclerosis Complex and distributed through university hospitals and the patients' association (2009-2011). The questionnaire was then distributed to patients registered by the Norwegian National Centre for Rare Epilepsy-Related Disorders (2013-2014). Risk of bleeding was estimated by Kaplan-Meier analysis. RESULTS: We included 357 patients (France, n = 257; Norway, n = 100); 189 (54%) reported having AMLs, 111 (32%) reported not having AMLs, and 50 (14%) reported not knowing whether they had AMLs. Twenty-five patients (France, n = 19; Norway, n = 6) reported that they have had bleeding. Age at first bleeding (known in 22 patients) was 27.6 ± 8.5 years. Fifteen patients (France, n = 11; Norway, n = 4) experienced first bleeding between 20 and 30 years. Bleeding-free survival was similar in France and Norway (P = .471). The bleeding-free survival rate at 72 years was 81% (95% confidence interval: 68-89) in the overall population and 66% (95% confidence interval: 43-82) in patients with AMLs. Bleeding treatment (known in 24 patients) consisted of conservative measures (n = 9), embolization (n = 8), nephrectomy (n = 4), embolization and nephrectomy (n = 2), or partial nephrectomy (n = 1). Fifteen French patients reported prophylactic treatment. In Norway, this information was known only in patients with renal bleeding and was reported in two. CONCLUSION: Fifty-four percent of the patients reported having AMLs and 7% (25/357) reported bleeding. Sixty-eight percent of first bleedings occurred between 20 and 30 years. Bleedings were managed conservatively in 38% of the patients and 62% needed active treatment.
