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Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes
Thomas Villeneuve1,2, Thibaut Jamme3, Robin Schwob4,5
1Respiratory Medicine Department, University Hospital, Toulouse, France. villeneuve.t@chu-toulouse.fr.
Orphanet Journal of Rare Diseases
|May 26, 2025
Summary
A new screening method combining lipid profiles and clinical data effectively identified Acid Sphingomyelinase Deficiency (ASMD) type B cases. This approach aids in early diagnosis and initiation of enzyme replacement therapy for this rare lysosomal disorder.
Area of Science:
- Biochemistry
- Genetics
- Rare Diseases
Background:
- Acid Sphingomyelinase Deficiency (ASMD) type B is a rare, heterogeneous lysosomal disorder caused by SMPD1 mutations.
- Early diagnosis is critical for initiating enzyme replacement therapy, but low prevalence complicates detection.
Discussion:
- A retrospective study analyzed 359,802 lipid profiles, identifying individuals with a high total cholesterol/HDL ratio (>4.5).
- Regex-based screening for consanguinity, hepatomegaly, splenomegaly, ground-glass opacities, and thrombocytopenia was employed.
- Patients meeting ≥4/5 criteria (179 individuals) underwent clinical review, including 19 pediatric cases.
Key Insights:
- The hybrid screening identified three previously diagnosed ASMD type B patients and flagged five undiagnosed patients for ASMD screening.
- Among patients meeting criteria, 25.7% had monogenic diseases, highlighting the diagnostic challenge.
- The method demonstrated effectiveness in identifying ASMD type B cases and potential candidates for genetic testing.
Outlook:
- This hybrid approach combining algorithmic filtering and clinical expertise can significantly enhance ASMD type B diagnosis.
- Further validation in diverse populations may refine screening protocols for rare lysosomal storage disorders.
