Patterns of Disease Monitoring and Treatment Among Patients with Tuberous Sclerosis Complex-related Angiomyolipomas

OBJECTIVE:

To use the tuberous sclerosis complex (TSC) Natural History Database to describe monitoring and treatment patterns among patients with TSC-related angiomyolipomas (AMLs).

METHODS:

This study used the TSC Natural History Database, which contains demographics, affected areas, diagnosis, and treatments for more than 1300 patients with TSC enrolled in 16 participating clinics during 2006-2013. Patient characteristics, AML monitoring tests, and AML treatments were assessed.

RESULTS:

Among the 621 patients with TSC-related AMLs, 54% were female; 77% were Caucasian. Median age at TSC diagnosis was <1 year, whereas median age at aml diagnosis was 9.8 years. most patients (84%) had at least 1 monitoring test following aml diagnosis. the most commonly used tests were magnetic resonance imaging (mri; 65% of patients), ultrasound (62%), and computed tomography (41%). between 2000 and 2012, mri made up an increasingly large proportion of the total number of monitoring tests. once diagnosed, 155 (25%) of patients received treatment for aml. the median time from diagnosis to first treatment was 3.8 years. the most common treatments were embolization (10%), everolimus (9%), sirolimus (6%), and nephrectomy (6%). the rate of nephrectomies declined over time, with none conducted during 2011 and 2012. no subsequent surgeries were reported among the 71 patients who received mtor inhibitor as first-line therapy.>

CONCLUSION:

The use of MRIs increased between 2000 and 2012 among patients with TSC-AML. The majority of these patients did not receive treatment for AML. Use of nephrectomy decreased over the study period and was particularly rare in patients who received an mTOR inhibitor.