Abstracts

Rationale:
Tuberous sclerosis complex (TSC) is a systemic and genetic disease characterized by the development of benign tumors. There are little data on adults living with TSC, with only one prior study in the literature focusing on this important population. The objective of our study is to examine a large national cohort of adults with TSC, to describe the clinical characteristics of these adults as well as the quality of the multidisciplinary care that they are provided. Our hypothesis is that adults with TSC differ from children by having a milder disease in terms of clinical severity, distribution of comorbidities, and prognosis.
Method:
Seven Canadian medical centers are collaborating in this retrospective descriptive study. We are collecting data using a standardized form. We used descriptive statistics for the analyses, including mean (standard deviation) or median (interquartile range; if non-Gaussian distribution), and proportions.
Results:
The study (with 2 of 7 centers reporting data at the time of this submission) includes 68 adults with TSC (mean age: 36.6). 43% were recorded as having at least mild intellectual disability (ID). Many individuals (37%) reported living with their parents or other family members but 21% were living with a partner. Nearly 62% were diagnosed with neuropsychiatric disorders, including autism, attention-deficit/hyperactivity disorder, and ID. Common findings in these individuals include cortical dysplasias (75%), angiofibromas (78%), and angiomyolipomas (AML) (62%). Among the latter, half of these patients have 5 or more renal AMLs. 78% of patients have epilepsy. Almost half of the patients with epilepsy have drug resistant epilepsy (DRE) and one fifth were treated with epilepsy surgery. Among patients with epilepsy, 64% were taking at least two anti-seizure drugs (ASDs), whereas 11% were not receiving any ASD. Past or present treatment with an mTOR inhibitor was recorded in 13% of patients. Nearly half reported some kind of improvement in their epilepsy, a regression in their lymphangioleiomyomatosis or a regression in AMLs while treated with an mTOR inhibitor. Renal imaging was performed in 87% of patients in the last 4 years, thoracic imaging in 79% of women, and genetic testing in 56% of individuals. Renal function was assessed in 76% of patients with an average serum creatinine of 67 (± 19) μmol/L. Less than half of the patients (43%) reported visiting either a urologist or nephrologist in addition to the epilepsy center in the past 24 months. 12% visited their primary treating physician less than once in the past 2 years.
Conclusion:
An important proportion of adults with TSC have milder disease, without intellectual disability and are living with partners. When counselling parents and newly diagnosed patients with TSC, practicing physicians should inform them about the possibility of having a milder form of the disease, thus having a relatively acceptable quality of life. Nevertheless, neuropsychiatric disorders, DRE, and renal AML are challenging factors and remain an integral part of managing adults with TSC. The centers who have reported their data generally follow recommended screening strategies. Data from the remaining centers will be collected and analyzed by December 2020.
Funding:
:No funding