779 The spectrum of lysosomal storage diseases in non-immune hydrops fetalis and potential treatments

Abstract

We performed a systematic literature review to determine the spectrum of lysosomal storage diseases (LSD) that result in non-immune hydrops fetalis (NIHF) and evaluate the existing therapies available. PubMed and Ovid were reviewed for case series evaluating the workup of NIHF diagnosed in utero or in the neonatal period in human subjects. Search terms were ‘non-immune hydrops,’ ‘non immune hydrops,’ ‘metabolic genetic disorders,’ ‘lysosomal storage disorders,’ ‘inborn errors of metabolism,’ and ‘inherited metabolic diseases.’ The time period searched was 1979 – August 2020. Retrospective case series with at least five cases of fetal and/or neonatal NIHF with reported workup were included. MOOSE guidelines were followed. Twenty-two case series with 2,678 total cases of NIHF were identified. The overall incidence of LSD was 7.2% (194/2,678) in NIHF cases that tested for any LSD. Fifteen different LSD were identified as potential causes of NIHF, with the five most common LSD causes being mucopolysaccharidosis type VII (45/194, 23.2%), galactosialidosis (26/194, 13.4%), infantile sialic acid storage disease (25/194, 12.9%), Gaucher disease (23/194, 11.9%), and GM1-gangliosidosis (22/194,11.3%). Of the fifteen different LSD identified as a cause of NIHF, six have approved postnatal therapies (Table 1) and several have clinical trials investigating potential therapies (Table 2). 43% of LSD identified as causes of NIHF in our review have available approved therapies. Given that 7% of NIHF cases are caused by LSD, and more than 40% of NIHF cases caused by LSD have available therapies, LSD testing should be considered if the standard workup for NIHF is negative.View Large Image Figure ViewerDownload Hi-res image Download (PPT)