Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis
Article first published online: 2 FEB 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 82, Issue 6, pages 552–557, December 2012
How to Cite
Black, M., Hedgire, S., Camposano, S., Paul, E., Harisinghani, M. and Thiele, E. (2012), Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. Clinical Genetics, 82: 552–557. doi: 10.1111/j.1399-0004.2012.01845.x
- Issue published online: 6 NOV 2012
- Article first published online: 2 FEB 2012
- Accepted manuscript online: 17 JAN 2012 12:12PM EST
- Received 29 September 2011, revised and accepted for publication 13 January 2012
- hepatic masses;
- tuberous sclerosis
Black ME, Hedgire SS, Camposano S, Paul E, Harisinghani M, Thiele EA. Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.
A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. TSC2 patients exhibited a higher frequency of AML compared to TSC1 patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to TSC2 patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p < 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.