Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Area of Science:

• Biochemistry
• Genetics
• Lysosomal Storage Diseases

Background:

• Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease.
• It is caused by a deficiency in the enzyme acid sphingomyelinase, leading to sphingomyelin accumulation.
• ASMD presents a spectrum of severity, from rapidly progressive neurovisceral disease to chronic visceral forms.

Purpose of the Study:

• To develop a guideline for diagnosing various ASMD phenotypes.
• To consolidate expert opinion and evidence for ASMD diagnosis.
• To improve the identification of ASMD across different clinical presentations.

Main Methods:

• Convened an international panel of experts in ASMD.
• Reviewed existing evidence and shared clinical experience.
• Developed a consensus-based diagnostic guideline.

Main Results:

• The guideline addresses the diagnosis of various ASMD phenotypes.
• It synthesizes expert knowledge for a rare disease.
• Focuses on identifying ASMD across its spectrum.

Conclusions:

• ASMD diagnosis is crucial for timely and appropriate patient care.
• Primary care providers and specialists should be aware of ASMD identification.
• This guideline aims to support healthcare providers in recognizing ASMD.