Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis

Abstract

Background and objective Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic characteristics, therapeutic management and quality of life of a cohort of adult patients with TS. A comparative study of the characteristics of patients diagnosed in childhood and adulthood is also carried out. Material and methods This observational, retrospective, cross-sectional study included a large cohort of adult patients (≥ 16 years old) followed for 5 years in a specific rare diseases unit. Results Fifty-seven patients with a diagnosis of tuberous sclerosis were included, more than 50% of whom were diagnosed as adults. The mean age of the patients was 42 years (20–86). The central nervous system was the main area affected (97%), followed by the skin (80.7%) and kidneys (73%). The most frequent genetic alteration was a mutation in the TSC2 gene (47.7%). Among patients diagnosed in adulthood, there was less neurological involvement, with less frequency of epileptic seizures (30.8% vs 60.79% of patients diagnosed in childhood) and astrocytomas (3.8% vs 53.6%), less intellectual disability (11.5% vs 71.4%) and less expressiveness of the condition. 42% of patients were treated with mTOR pathway inhibitors, and presence of an angiomyolipoma was the main indication. In a quality-of-life analysis, the means of the summary indices were below the scores of the average Spanish population: (47.42 (SD ± 9.82) on the physical health scale, 45.61 (SD ± 7.99) on the mental health scale) versus 50 (SD ± 10) for the general population. Conclusions Up to 50% of adult patients with TS were diagnosed in adulthood, and the condition is less severe with less frequent epileptic seizures and intellectual disability. 42% require treatment with mTOR inhibitors, in most cases due to the presence of AMLs. The quality of life of adult patients with TS is diminished compared to the general population.

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience

“…Multiple studies have shown that these patients report a decreased quality of life and require continued monitoring into adulthood. [26][27][28]…”

Dermatology Life Quality Index survey in patients with Down syndrome and caregivers

“…4 There are many quality of life (QoL) studies in dermatology literature, yet few address individuals with intellectual or physical disabilities, and none evaluate people with DS. 5 In one study exploring physical conditions that cause pain in patients with DS, pain-induced skin conditions were most frequently reported. 6 For people with disabilities, caregivers may also play an active role in the physical and emotional management of skin disease.…”

“…Of patients with DS, 56% experience skin conditions by the time they are young adults 4 . There are many quality of life (QoL) studies in dermatology literature, yet few address individuals with intellectual or physical disabilities, and none evaluate people with DS 5 . In one study exploring physical conditions that cause pain in patients with DS, pain‐induced skin conditions were most frequently reported 6 .…”

Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex

“…As a result, it is imperative to explore genotype-phenotype correlations to ensure structured management and surveillance are maintained with the variable phenotypic expression seen over time in adult patients with TSC. 10 In this study, we aimed to characterize the phenotypic and molecular characteristics of a Canadian adult TSC population to improve multidisciplinary care and adult patient management.…”