Boctor and Wilkerson (Ann Clin Lab Sci. 2014 Summer;44(3):332-3., reported a case of Smith Lemli Opitz Syndrome in which low cholesterol levels were increased using fresh frozen plasma (FFP) in a situation where enteral replacement of cholesterol was not possible.
To my knowledge, the practice of using FFP for cholesterol replacement in SLO has been employed previously as a perioperative measure and in situations of critical illness, though publications on exact dosing and response are scarce. This current report carefully outlines the dosing of FFP used in this patient’s situation and the plasma cholesterol response. It is a helpful addition to the clinical approaches available for SLOS.
Hilary Vernon, MD PhD