Abstract: PO1522
Description of a Multidisciplinary Model of Care in a French Cohort of Tuberous Sclerosis Complex Adult Patients
Session Information
- Cystic Kidney Diseases: Mechanisms, Genetics, and Treatment
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1001 Genetic Diseases of the Kidneys: Cystic
Authors
- Pfirmann, Pierre, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
- Combe, Christian, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
- Rigothier, Claire, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
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.
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. Quality of life was evaluated by SF36 score.
Results
90 patients were enrolled in a french hospital, between January 2000 and September 2018. Median age of patients at inclusion was 37 years (range, 27-47). 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%), TAND (64%) and lymphangioleiomyomatosis (LAM) (59%). A TSC multidisciplinary approachin day hospital 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 TSC patient satisfaction (100%).The assessment of physical health and mental health indicated considerable deterioration (47.52% and 43.46%, respectively). The patient’s family’s quality of life was evaluated and the results were similar to those found for patients, for each variable (figure).
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 TSC patients with a high level of patient satisfaction.
Funding
- Clinical Revenue Support