title: Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.
abstract: 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.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
authors.forename: M E
authors.initials: ME
authors.lastname: Black
authors.forename: S S
authors.initials: SS
authors.lastname: Hedgire
authors.forename: S
authors.initials: S
authors.lastname: Camposano
authors.forename: E
authors.initials: E
authors.lastname: Paul
authors.forename: M
authors.initials: M
authors.lastname: Harisinghani
authors.forename: E A
authors.initials: EA
authors.lastname: Thiele
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D018207:Angiomyolipoma / Q000000981:diagnostic imaging* / Q000453:epidemiology*; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D012044:Regression Analysis; D012737:Sex Factors; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins