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Phenotypes
Original research
Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex
  1. Pierre Pfirmann1,2,
  2. Jerome Aupy3,
  3. Eva Jambon4,
  4. Laetitia Idier1,5,
  5. Mathilde Prezelin-Reydit5,6,
  6. Marine Fermis7,
  7. Raphael Devillard2,7,
  8. Nicolas Grenier4,
  9. Christian Combe1,2,
  10. Claire Rigothier1,2
  1. 1 Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
  2. 2 Tissue Bioengineering, BioTis, U1026, INSERM DR Aquitaine Poitou-Charentes, Bordeaux, France
  3. 3 Service de Neurologie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
  4. 4 Service d'Imagerie Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
  5. 5 Association pour l'Utilisation du Rein Artificiel a Domicile en Aquitaine, Gradignan, France
  6. 6 ISPED, INSERM, Bordeaux Population Health Research Center, Bordeaux, France
  7. 7 Service de Médecine Bucco-Dentaire, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
  1. Correspondence to Dr Pierre Pfirmann, Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Centre Hospitalier Universitaire de Bordeaux, Bordeaux 33000, France; p.pfirmann{at}gmail.com

Abstract

Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.

Objectives Our study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model.

Methods Data on each adult patient diagnosed with TSC, including disease manifestations, interventions and outcomes, were collected at baseline and updated annually. A multidisciplinary TSC approach with all the recommended explorations was carried out annually.

Results 90 patients were enrolled in Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Median age of patients at inclusion was 37 years (range, 27–47) and 20 years old at diagnosis of TSC. Regarding the occurrence of TSC manifestations, 97% of the patients had cutaneous lesions, 89% had neurological manifestations, 83% had renal manifestations and 100% had dental lesions with pits. More than half the patients had sclerotic bone lesions (68%), TSC-associated neuropsychiatric disorders (64%) and lymphangioleiomyomatosis (59%). A TSC multidisciplinary approach was developed including a global follow-up and an evaluation of TSC targeting organs, according to the recommendations. A satisfaction survey revealed global and entire satisfaction of patients with TSC.

Conclusion We obtained an accurate description of a cohort of adult patients with TSC. Our multidisciplinary approach model allowed us to provide optimal management of patients with TSC with a high level of patient satisfaction.

  • tuberous sclerosis complex
  • registry
  • mTOR inhibitor
  • renal angiomyolipoma
  • quality of life

https://doi.org/10.1136/jmedgenet-2019-106607

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    Footnotes

    • Twitter @ChristianCombe

    • Contributors PP planned the study, conducted a survey and drafted and revised the paper. JA conducted the global survey in day’s hospitalisation. EJ and NG conducted the radiological survey. LI conducted the psychological survey. MPR performed statistics. MF and RD conducted the dental survey. CC conducted the nephrological survey. CR planned the study and drafted and revised the paper. All authors approved the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Ethics approval The Institutional Review Board approved this retrospective and prospective study. Patients were informed and consented to the review of recorded data. The study was conducted with the approval of the Institutional Review Board and in accordance with the Declaration of Helsinki.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement Data are available upon reasonable request. All data relevant to the study are included in the article or uploaded as supplementary information. All the data are kept within our institution and are available by approaching PP who is the corresponding person.