About this study
This study reports on 90 adults with TSC who attended Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Since 2015 this institution has been providing a multidisciplinary team approach to the care of adults with TSC. It does this through the provision of a TSC day where annual evaluation with a nephrologist, neurologist, dentist, ophthalmologist and psychologist occurs.
Centre Hopitalier Universitaire de Bordeaux
At the Centre, surveillance is individualised according to need. It includes clinical and dermatological examinations, and imaging. Lung function is assessed based on pulmonary function tests and a 6-minute walk test. Cardiac function is tested using ECG, and kidney function is checked using blood tests and urinalysis. Any issues detected lead to more investigations. Along with this physical testing, quality of life, anxiety, depression, intellectual impairment and family burden are also measured.
Findings of the study
In the 90 adults with TSC who attended the Centre during the time period:
- 100% had dental lesions with pits
- 97% had cutaneous (skin) lesions
- 89% had neurological manifestations – 81% had tubers and 67% had epilepsy
- 83% had renal manifestations (AML, cyst or chronic kidney disease)
- 68% had sclerotic bone lesions
- 64% had TSC-associated neuropsychiatric disorders (TAND)
- 59% had lymphangioleiomyomatosis (LAM)
- 39% experienced depression
- 22% experienced moderate to high anxiety
The age of people attending the clinic ranged from 27-47.
Physical quality of life for these TSC adults was most affected by fatigue, and mental quality of life was most affected by the presence of TAND. Of interest, although the number of patients with a history of rhabdomyomas was low (13%), they detected a relatively high frequency of heart-related conditions, including conduction disturbance (15%) and arrhythmia (8%).
This multidisciplinary team approach to the care of adults with TSC represents a model that allows for optimal evaluation and management of TSC in a manner that is convenient for patients with most appointments occurring on one day. It also, once again highlights the importance of surveillance and particularly TAND. Patient satisfaction with the clinic, which was measured through a survey, was high.
Pfirmann P, Aupy J, Jambon E, et al Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex, Journal of Medical Genetics, Published Online First: 14 May 2020. doi: 10.1136/jmedgenet-2019-106607
Full paper available (at extra cost) at: https://jmg.bmj.com/content/early/2020/05/14/jmedgenet-2019-106607
This information is intended to provide some insights into recent TSC-related research. It is not intended to, and it should not, constitute medical or other advice. Readers are warned not to take any action without first seeking medical advice.