Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy
Posted on 2019-08-15 - 05:01
Abstract Background Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder that can present as a severe, infantile form also known as Wolman disease. We sought to determine the outcomes and clinical needs of infants diagnosed with LAL-D, treated with enzyme replacement therapy (ERT). Methods A chart review was conducted on two infantile-onset LAL-D patients to determine clinical outcomes based on laboratory results, abdominal imaging, growth and dietary records, cardiology, endocrinology, ophthalmology, hematology, and neurocognitive evaluations. Results Two patients, both diagnosed and treated before 6âmonths old, demonstrated clinical improvement following weekly ERT. They required dosage increases to optimize growth and symptomatology. Both received a formula low in long chain triglycerides and high in medium chain triglycerides, an intervention that allowed significant catch-up growth. Patient 1 required treatment for partial adrenal insufficiency and hypothyroidism. Both patients demonstrated reduction in liver and spleen size and varying degrees of improved liver function. Neither experienced serious adverse reactions to ERT. Conclusion ERT has led to longer and healthier survival of affected infants. It is imperative that dietary interventions and systemic clinical care become integral to the management. Continued evidence of survival and clinical improvement in this population, coupled with available mass spectrometry enzyme assay from dried blood spots, raises the question of this rare and possibly underdiagnosed disorderâs candidacy for newborn screening.
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Cohen, Jennifer; Burfield, Jessica; Valdez-Gonzalez, Karen; Samuels, Angela; Stefanatos, Arianna; Yudkoff, Marc; et al. (2019). Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4618241.v1
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AUTHORS (8)
JC
Jennifer Cohen
JB
Jessica Burfield
KV
Karen Valdez-Gonzalez
AS
Angela Samuels
AS
Arianna Stefanatos
MY
Marc Yudkoff
HP
Helio Pedro
CF
Can Ficicioglu