Lipid Storage Disorders Guidelines

Updated: Jun 10, 2020
  • Author: Rubia Khalak, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Guidelines Summary

Family-based studies and new technologies for newborn screening have enabled the diagnosis of lysosomal storage disorders (LSDs) in presymptomatic individuals. Although significant limitations were faced in composing the guidelines, they still provide a framework for the initial evaluation and management of several disorders.

LSDs are rare and complex. Natural history data for most conditions are limited, and scant long-term follow-up data are available on the efficacy of different therapeutic approaches. The evidence bases for these rare disorders are poorly organized and statistically weak. Efforts to capture diagnostic and long-term follow-up data to improve understanding are urgently needed. Biospecimen repositories are needed for future research studies of biomarkers and modifier genes. In this regard, the creation of ACMG/NIH Newborn Screening Translational Research Network301 is timely and will play an important role in improving the knowledge base in the coming years.

Patients with LSDs often need multidisciplinary care that should ideally be provided through a team approach, including medical geneticists, hematologists, cardiologists, neurologists, ophthalmologists, and anesthesiologists, among other specialists. As newborn screening for LSDs becomes more widespread, there will be an increasing need for physicians trained in the care of these patients, particularly biochemical geneticists.

Laboratories used for enzymology and molecular diagnostics should be experienced and of high quality as evidenced by participation in quality assurance and proficiency testing programs. They should be capable of providing rapid turn-around of results (local laboratories are desirable). [20]