Establishment of a Regional Interdisciplinary Medical System for Managing Patients with Tuberous Sclerosis Complex (TSC)

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by lesions that involve multiple organs. Interdisciplinary management at individual facilities needs to be coordinated to treat multiple organ systems. We hypothesized that the number of patients, opportunities for patients to undergo examinations, and opportunities for patients to be treated would increase after establishment of a TSC board (TB) in our hospital. From August 1979 to August 2017, 76 patients were studied. We established the TB in our hospital in 2014. We divided the patients into the pre-TB group and post-TB group. Patients consisted of 33 females and 43 males (mean age, 18.7 years; median age, 15 years). The follow-up period was 2 to 457 months (mean, 51.6 months; median, 24.5 months). Twenty-four patients were in the pre-TB group, and 52 were in the post-TB group. Regular follow-up (p < 0.001), younger age (p = 0.002), opportunities for patients to undergo examinations, opportunities for patients to receive neurological treatment (p < 0.001), and mammalian target of rapamycin (mTOR) inhibitor usage (p = 0.041) were significantly higher in the post-TB group. The radial relationship around the axis of TSC coordinators may be the key to interdisciplinary management of TSC.

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

“…Future studies demonstrating the benefit of MDTs would be of value, particularly considering the benefits demonstrated from previous studies evaluating MDTs for the treatment of cancer [27]. One of the few available studies in TSC by Fujimoto et al describes how the implementation of a TSC board to organize interdisciplinary management led to higher rates of regular follow-up, opportunities for patients to undergo examinations, opportunities for patients to receive neurologic treatment, and mTOR inhibitor usage compared with before the TSC board was implemented [31]. Studies of MDTs for TSC could also evaluate differences in treatment outcomes and patient satisfaction.…”

“…Other groups have focused on the patient concerns MDTs should consider when implementing a transition of care from youth to adulthood [28]. Still others have performed studies showing how their use of MDT has increased rates of patient follow-up and opportunities for exams or treatments [31]. However, there is still a lack of published literature on how best to approach establishing an MDT.…”

Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility

“…Subependymal giant cell astrocytoma (SEGA) is often seen in patients with tuberous sclerosis complex (TSC), with a reported frequency of 1-27.4 % [1][2][3][4][5][6][7]. Management of SEGA used to involve resection in open cranial surgery [8,9], because SEGA may cause hydrocephalus [10], and, in rare cases, malignant transformation [11] or intra-tumoral hemorrhage [12].…”

“…This is because the mechanisms underlying TSC involve abnormal upregulation of the mammalian target of rapamycin (mTOR) pathway in patients with TSC and subsequent tumor growth in various organs. Interdisciplinary medical management is thus required for the treatment of TSC [ 3 , 20 , 21 ]. The importance of interdisciplinary medical management for TSC is nowadays acknowledged by many physicians who treat patients with TSC.…”

“…As mTORi show efficacy against not only SEGA, but also pathologies such as renal angiomyolipoma [ 22 , 23 ], epileptic seizures [ 24 ], neuropsychiatric disorders [ 25 ], and lymphangioleiomyoma [ 26 , 27 ] over a wide age range [ 28 ], the situation surrounding patients with TSC has become more complicated. Patients with SEGA should thus be followed-up by a well-organized interdisciplinary team including internal and surgical physicians [ 3 , 20 ]. The current treatment strategy for SEGA entails two treatment options: surgical removal or a pharmacotherapeutic approach using mTORi [ 29 ].…”