Lysosomal Acid Lipase Deficiency: Paving the Path for an Early Diagnosis.

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Presentation transcript:

Lysosomal Acid Lipase Deficiency: Paving the Path for an Early Diagnosis

Program Goals

LAL-D

Prevalence of LAL-D

LAL-D in Adults and Children

Histology

Histology (cont)

Histology: Differential Diagnosis

Confirm the Diagnosis of LAL-D Using an LAL Enzyme Activity Assay

LAL Blood Tests: Dried Blood, Spot Enzyme Assay

Differential Diagnosis

Liver Pathology: Mimics

Making the Final Diagnosis

Hepatic Function Is Progressively Compromised in Patients With LAL-D[a]

LAL-D Is Characterized by Dyslipidemia

LAL-D Is Multisystemic

Wolman Disease*

Some Patients Do Not Fit the Classic Lipid Profile

Management and Treatment of LAL-D

ARISE

ARISE: Primary Outcome

ARISE: Secondary Outcomes

LAL-D: Summary

Abbreviations

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