Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
ASMD and GD1 should be considered in differential diagnosis of patients with unexplained liver and lipid abnormalities, especially young, lean adults with very low HDL and hepatosplenomegaly. HDL emerged as a potential biomarker of disease activity in these sphingolipid disorders.
Authors
- Robin Lachmann (ORCID: https://orcid.org/0000-0002-2618-2581)
- Carlos E. Prada (ORCID: https://orcid.org/0000-0003-3348-3531)
- Melissa Wasserstein (ORCID: https://orcid.org/0000-0003-2031-7817)
- David Cassiman (ORCID: https://orcid.org/0000-0002-6154-0970)
- Simon A. Jones (ORCID: https://orcid.org/0000-0001-7297-9711)
- Pramod K. Mistry (ORCID: https://orcid.org/0000-0003-3447-6421)
- Michel Peterschmitt (ORCID: https://orcid.org/0000-0003-4686-0412)
- Lisa H. Underhill
- Reema M. Patel
- Beth L. Thurberg
- Elena Lukina
- Meredith C. Foster
Institutions
- Northwestern University (US)
- Lurie Children's Hospital (US)
- Albert Einstein College of Medicine (US)
- University of Manchester (GB)
- Yale University (US)
- AVEO Oncology (United States) (US)
- St Mary's Hospital (GB)
- National Medical Research Center for Hematology (RU)
- Sanofi (United States) (US)
- Children's Hospital at Montefiore (US)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- KU Leuven (BE)
Publication Details
- Journal
- Hepatology Communications
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1097/hc9.0000000000000621
- Citations
- 3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Sanofi
- Yale University