Managing tuberous sclerosis in the Asia-Pacific region: Refining practice and the role of targeted therapy
Journal
Journal of Clinical Neuroscience
Journal Volume
21
Journal Issue
7
Pages
1180-1187
Date Issued
2014
Author(s)
Lawson J.A.
Chan C.-F.
Chi C.-S.
Kim H.D.
Kim K.J.
Likasitwatanakul S.
Ortiz M.
Riney K.
Tay S.K.-H.
Tham C.-K.
Abstract
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder, with heterogeneous manifestations that pose major diagnostic and management challenges and incur considerable chronic disease burden on patients, their caregivers and healthcare systems. This survey of clinical practice in the Asia-Pacific region highlights priorities for improving TSC management in the region. The prevalence of TSC in non-Caucasians is uncertain and more data are needed to assess its impact and health-economic burden. There are unmet needs for access to genetic testing and earlier diagnosis and intervention. TSC management is multidisciplinary and largely based on experience, backed by international guidelines; however, physicians in the Asia-Pacific region feel isolated and lack local or regional guidance and support structures to implement best-practice. Raising awareness of TSC and increasing trans-regional collaboration are particular priorities. Understanding of TSC pathophysiology has enabled the development of targeted therapies. Encouraging data indicate that mammalian target of rapamycin (mTOR) inhibitors can ameliorate TSC-related lesions and may potentially change the treatment paradigm. Ultimately, improving outcomes for TSC patients in the region requires greater collaboration and a holistic, patient-focused, continuum of care that is maintained through the transition from pediatric to adult care. ? 2013 Elsevier Ltd. All rights reserved.
Subjects
Asia-Pacific; Management; mTOR inhibitor; TSC; Tuberous sclerosis
Other Subjects
anticonvulsive agent; corticosteroid; everolimus; mammalian target of rapamycin; placebo; MTOR protein, human; target of rapamycin kinase; amenorrhea; angiomyolipoma; article; Asia Pacific; bronchitis; clinical practice; convulsion; drug efficacy; drug safety; drug tolerability; early diagnosis; genetic screening; geographic names; health care access; health care need; human; infection; leukopenia; lymphangioleiomyomatosis; molecularly targeted therapy; pathophysiology; patient monitoring; pneumonia; practice guideline; prevalence; priority journal; protein targeting; public-private partnership; pulmonary lymphangioleiomyomatosis; sinusitis; skin defect; stomatitis; subependymal giant cell astrocytoma; tooth infection; tuberous sclerosis; Asia; caregiver; complication; disease management; epidemiology; female; male; metabolism; tuberous sclerosis; Asia; Caregivers; Disease Management; Female; Humans; Male; TOR Serine-Threonine Kinases; Tuberous Sclerosis
Publisher
Churchill Livingstone
Type
journal article