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ObjectiveTo estimate health‐related quality of life (HRQoL) in patients with tuberous sclerosis complex (TSC) and associated manifestations and to identify potential factors associated with HRQoL in this population of patients.MethodsWe performed a retrospective chart review of adults with TSC who attended the outpatient clinic of the University Medical Center Utrecht in the Netherlands from 1990 to 2015 (N = 363; on average 33.6 years of follow‐up). HRQoL data were assessed in 2012 using the Health Utility Index version 3 (HUI‐3) questionnaire completed by patients or caregivers (N = 214 with HUI score and ≥1 TSC manifestation, including renal angiomyolipomas [rAMLs], subependymal giant cell astrocytoma [SEGA], or epilepsy).ResultsOf 214 patients in the study sample, 171 had TSC‐associated epilepsy (with or without rAML/SEGA), 37 had TSC and rAML (without epilepsy or SEGA), and 6 had other combinations of manifestations. The median HUI score for the 214 patients with ≥1 TSC manifestation was 0.51 (−0.371 to 1 scale, 1 = perfect health, 0 = death, <0 = worse than death). Among all components used to build the overall HUI score, the cognition component had the lowest score (mean = 0.47; 0‐1 scale). Patients with TSC‐epilepsy had significantly lower overall HUI than patients with TSC and rAML only (median HUI = 0.31 vs 0.95, P < .05), especially those who were in refractory state for prolonged periods of time (median HUI = −0.11 among patients with seizures during the entire duration of their follow‐up time). In multivariate analyses, severe impairment of daily functioning was the strongest predictor of HRQoL decrement (adjusted HUI difference between patients with severe vs. no impairment = −0.55, P < .05).SignificanceThis study showed that TSC‐related epilepsy is associated with lower HUI, especially for patients who have refractory seizures for prolonged periods of time. Early and effective interventions to control or reduce seizures and preserve patients’ cognitive functions may help to improve patients’ quality of life.

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IntroductionThe incidence of hepatitis E (HEV) genotype 3 is rising in developed countries. HEV infections are usually self-limiting, but can become chronic in immunocompromised patients. This might lead to rapid fibrosis development even resulting in cirrhosis. Chronic HEV is mainly described in patients after solid-organ or hematological transplantations. We present the first case of HEV infection in a patient with tuberous sclerosis complex (TSC) treated with everolimus, a mammalian target of rapamycin (mTOR) inhibitor.CaseA 46-year-old male with TSC was referred to the infectious diseases department with an acute rise of liver enzymes during routine laboratory check-up. He was diagnosed with an acute HEV infection. His current treatment for TSC was everolimus. After awaiting a spontaneous clearance for 3 months, everolimus was discontinued. Hereafter, the infection was cleared within another 3 months.DiscussionDue to a favorable side-effect profile, everolimus is gaining popularity as an immunosuppressive therapy. However, in vitro experiments suggest that inhibition of mTOR leads to a significant increase in HEV replication. Thus far, there have been no clinical reports of HEV infections in patients treated with everolimus.ConclusionDue to higher dosing of everolimus in TSC patients, they are more vulnerable to the development of chronic HEV infection. Periodic assessment of transaminases in these patients is advised.

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