Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway—a Questionnaire Study

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.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.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.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.