title: Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: National Centre for Rare Epilepsy-Related Disorders, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo, Norway. Electronic address: cockerelline@gmail.com.
authors.forename: Ine
authors.initials: I
authors.lastname: Cockerell
authors.affiliation: Department of Urinary and Vascular Imaging, Hôpital Edouard Herriot, Lyon, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Guenin
authors.affiliation: Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
authors.forename: Ketil
authors.initials: K
authors.lastname: Heimdal
authors.affiliation: National Centre for Epilepsy, Division for Clinical Neuroscience, Oslo University Hospital, Oslo, Norway.
authors.forename: Marit
authors.initials: M
authors.lastname: Bjørnvold
authors.affiliation: National Centre for Rare Epilepsy-Related Disorders, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
authors.forename: Kaja K
authors.initials: KK
authors.lastname: Selmer
authors.affiliation: Department of Urinary and Vascular Imaging, Hôpital Edouard Herriot, Lyon, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Rouvière
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018207:Angiomyolipoma / Q000453:epidemiology* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D018572:Disease-Free Survival; D004621:Embolization, Therapeutic; D005260:Female; D005602:France / Q000453:epidemiology; D006470:Hemorrhage; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000453:epidemiology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009392:Nephrectomy; D009664:Norway / Q000453:epidemiology; D015995:Prevalence; D012107:Research Design; D012306:Risk; D011795:Surveys and Questionnaires; D014402:Tuberous Sclerosis / Q000453:epidemiology* / Q000628:therapy; D055815:Young Adult