From the Guidelines
Management of a patient with tuberous sclerosis complex (TSC) and lymphangiomatosis requires a multidisciplinary approach focusing on both conditions, with mTOR inhibitors like sirolimus or everolimus as the cornerstone of treatment, starting at a dose of 5mg everolimus for adults, as recommended by the most recent guidelines 1. For TSC, these medications are particularly beneficial as they can simultaneously address both conditions, as lymphangiomatosis may also respond to mTOR inhibition. Regular monitoring for TSC manifestations is essential, including:
- Brain MRI every 1-3 years to assess for subependymal giant cell astrocytomas
- Renal imaging for angiomyolipomas
- Pulmonary function tests for lymphangioleiomyomatosis
- Dermatological evaluations for skin lesions For lymphangiomatosis, additional treatments may include:
- Sclerotherapy for localized lesions
- Surgical intervention for symptomatic lesions causing compression
- Supportive care for complications like pleural effusions or bone involvement Antiepileptic medications are needed if seizures are present, with levetiracetam, lamotrigine, or oxcarbazepine often used as first-line options, as part of a comprehensive management plan that considers the latest clinical practice recommendations 1. This dual-condition management works because mTOR pathway dysregulation underlies both TSC and lymphatic malformations, making targeted therapy particularly effective for these patients, and should be coordinated by a multidisciplinary team in an expert centre, as emphasized in recent consensus statements 1.
From the Research
Management of Tuberous Sclerosis Complex (TSC) with Lymphangiomatosis
The management of TSC with lymphangiomatosis requires a multidisciplinary approach, as recommended by consensus guidelines 2. This approach involves a team of specialists, including a neurologist, nephrologist, pulmonologist, and cardiologist, among others.
Treatment Options
- mTOR inhibitors, such as everolimus and sirolimus, have been shown to be effective in reducing the size of renal angiomyolipomas in patients with TSC or sporadic lymphangioleiomyomatosis 3, 4, 5.
- Everolimus has been approved as a treatment option for TSC patients with subependymal giant-cell astrocytomas (SEGAs) or renal angiomyolipomas (AMLs) 6.
- Sirolimus has been shown to reduce the volume of angiomyolipomas and improve pulmonary function in patients with lymphangioleiomyomatosis 5.
Multidisciplinary Care Approach
- A multidisciplinary care approach is essential for the management of TSC, as it allows for the coordination of care and the involvement of multiple specialists 2.
- The care team should include a lead physician who takes medical responsibility for the patient's overall care, as well as a case manager to help coordinate care 2.
- The care plan should be individualized to meet the patient's specific needs and should be developed in consultation with the patient and their family 2.