Background
Tuberous Sclerosis Complex (TSC) is an autosomal dominant condition characterised by non-malignant growths in various organ systems. Pregnancy in these patients requires unique management considerations.
Case report
We describe a case of a pregnancy in a 24 year old female with TSC. Her manifestations of TSC included stable epilepsy with previous removal of brain tuber, skin angiofibromas and multiple kidney angiomyolipomas (AMLs), the largest being 22mm, with preserved kidney function. She underwent egg retrieval and freezing. CT angiogram of the kidneys following egg retrieval showed multiple bilateral kidney AMLs with the size of the largest increasing to 35mm, suggesting hormone sensitive growth. She subsequently had a spontaneous conception with monochorionic diamniotic twins. Close surveillance imaging of her AMLs occurred each trimester with non-contrast MRI. MRI at 24 weeks gestations confirmed interval growth of the renal AMLs however there was no aneurysmal change in the blood vessels and all lesions remained under 4cm. She was offered, but declined, everolimus treatment during pregnancy. The patient did not have any bleeding complications nor required any intervention during pregnancy or post-partum for the AMLs. She had a successful vaginal delivery of live twins after induction of labour at 36 weeks gestation.
Genetics
Prior genetic testing was negative, with repeat testing on an updated platform during early pregnancy confirming a mosaic pathogenic variant in TSC2 with a variant allele frequency of 9%. Advances in genetic testing panels add another complex layer to preconception counselling in TSC with options of preimplantation genetic testing.
Imaging
Preconception imaging of kidney AMLs and vasculature is pertinent to identify and target high risk lesions. However, true bleeding risk during pregnancy for these lesions remains difficult to interpret. Current literature only consists of case reports and case series that report bleeding complications in pregnancy, making it difficult to extrapolate on management. Increase in size of AML during pregnancy is thought to be secondary to oestrogenic effects. We identified that cases in the literature described bleeding complications in large AMLs of > 15cm however there was limited descriptions of the vascular anatomy of these lesions and change in size during pregnancy was rarely commented on.
Conclusion
This case highlights the unique management considerations for patients with TSC through pregnancy, in particular, management of kidney AML.