Enhancing disease awareness for tuberous sclerosis complex in patients with radiologic diagnosis of renal angiomyolipoma: an observational study

Kathrin Bausch,Julian Diethelm,Hans-H Seifert,Patricia Dill,Cyrill A Rentsch,Christian Wetterauer,Jan Ebbing,Daniel T Boll

doi:10.1186/s12882-021-02253-w

Kathrin Bausch, Julian Diethelm + Show 6 more

Open Access

https://doi.org/10.1186/s12882-021-02253-w

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Abstract

BackgroundTuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70–80% of patients. AML usually cause more complications in TCS patients than in non-TSC patients. However, AML patients are not routinely investigated for TSC. Our aim was to retrospectively assess the correlation between radiologically diagnosed AML and TSC.MethodsAll patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC.ResultsComplete data were available for 521 patients with renal AML, in 7 of which the concurrent diagnosis of TSC was found. Younger age significantly positively correlated with the prevalence of TSC in AML patients (p < 0.01). 37 (7%) of the 521 patients were within the age-range of 18–40 years, in which TSC occurred in 6 cases, 4 (66.7%) of which presented with multiple, bilateral renal AML (p < 0.05), and 2 (33.3%) of which with a single, unilateral AML (p < 0.05). In patients with AML but without TSC, unilateral AML was found in 83.9% and bilateral AML in 16.1% (p < 0.05). Simple binary logistic regression analysis revealed bilateral AML (OR 33.0; 95% CI 3.2–344.0; p = 0.003) (but not unilateral AML (OR 0.09; 95% CI 0.01–0.88; p = 0.04)) to be a risk factor for TSC.ConclusionsThe presence of bilateral AML in patients within the age-range of 18–40 years should raise suspicion for TSC as the underlying cause. Therefore, our advice is to refer patients with multiple bilateral renal AML for further investigations regarding TSC.

Highlights

Tuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70–80% of patients
Even though neurological (90%) and cutaneous (90%) manifestations, such as cortical tubers, epilepsy, giant cell astrocytoma, hydrocephalus, neurodevelopmental impairment, and facial angiofibromas [4], are the most common symptoms of TSC, 70 to 80% of TSC patients are affected by renal angiomyolipoma (AML)
Growing renal AML pose a significant cause of mortality in TSC patients, since they bear the risk of severe life-threatening haemorrhage [9] and impair the renal parenchyma, which leads to chronic kidney disease (CKD) and eventually end-stage renal disease

Summary

Introduction

Tuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70–80% of patients. Even though neurological (90%) and cutaneous (90%) manifestations, such as cortical tubers, epilepsy, giant cell astrocytoma, hydrocephalus, neurodevelopmental impairment, and facial angiofibromas [4], are the most common symptoms of TSC, 70 to 80% of TSC patients are affected by renal angiomyolipoma (AML). These benign tumours are composed of blood vessels, adipose tissue, and smooth muscle [7]. In TSC patients, new targeted treatment options with mTOR-inhibitors proved to be beneficial – especially in AML patients [13]

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