ArticleOrphanet journal of rare diseases2025
Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.
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1 citing paper in PubMed.
- Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.Orphanet journal of rare diseases · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcid Sphingomyelinase Deficiency (ASMD) type B is a rare lysosomal disorder caused by SMPD1 mutations. Due to its low prevalence and clinical heterogeneity, diagnosis is challenging, and detection is crucial for the initiation of enzyme replacement therapy.
methodsWe conducted a retrospective study (RnIPH 2024-85) at Toulouse University Hospital, analyzing 359,802 lipid profiles (2012-2023). We identified individuals with a total cholesterol/HDL cholesterol ratio > 4.5. A regex-based extraction method screened records for consanguinity, hepatomegaly, splenomegaly, and ground-glass opacities (GGOs), while we also analyzed thrombocytopenia (< 150 × 10⁹/L). Patients meeting ≥ 4/5 criteria underwent clinical review.
resultsAmong 63,653 patients with dyslipidemia, 20.3% had thrombocytopenia, 4.93% hepatosplenomegaly, 2.29% GGOs, and 0.24% consanguinity. In total, 179 patients met ≥ 4/5 criteria. Nineteen (10.6%) were pediatric. Three previously diagnosed ASMD type B patients in our center were identified. Additionally, among other conditions, 46 cases (25.7%) had monogenic diseases, and five undiagnosed patients were flagged for ASMD screening.
conclusionOur hybrid screening effectively identified ASMD type B cases and potential candidates for genetic testing. This approach combining algorithmic filtering and clinical expertise, could enhance ASMD type B diagnosis.
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