Sirolimus for treatment of refractory capillary malformations in SMA and PROS
Amy E. Hansona, MD, Princy Gherab, MD
Affiliations : aIndiana University School of Medicine, Indianapolis, Indiana; and bUniversity of Texas Southwestern Medical Center, Dallas, Texas
Address correspondence to : Amy Hanson, 705 Riley Hospital Dr., Indianapolis, IN 46202, (319)551-5503
Running Head : Use of sirolimus in a patient with SMA and PROS
Funding Source: None
Financial Disclosure : The authors have indicated they have no financial relationships relevant to this article to disclose.
Conflict of Interest : The authors have no conflicts of interest to disclose.
Clinical Trial Registration (if any) : Not applicable
Abbreviations : listed in order as they appear in the manuscript
SMA-1 - spinal muscular atrophy type 1
MCAP – megalencephaly-capillary malformation-polymicrogyria syndrome
SMN1 – survival motor neuron 1
PIK3CA – phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
PI3K – phosphatidylinositol 3-kinase
PROS – PIK3CA-related segmental overgrowth spectrum
mTOR – mammalian target of rapamycin
IR – interventional radiology
AVMs – arteriovenous malformations
CBCs – complete blood counts
LFTs – liver function tests
CT – computed tomography
VEGF – vascular endothelial growth factor
AKT – protein kinase B
CLOVES – congenital lipomatous overgrowth vascular malformations-epidermal nevi-skeletal abnormalities
pTEN – phosphatase and tensin homolog
FKBP – FK506 (sirolimus) binding protein
SRL – sirolimus
AKT – serine/threonine kinase
pKB – protein kinase B
eIF4E – eukaryotic translation initiation factor 4E
S6 – ribosomal protein
Table of Contents Summary : Case detailing use of sirolimus for treatment of vascular malformations causing recurrent hemoptysis in the first known case of SMA-1 in association with MCAP syndrome.