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

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Presentation on theme: "Lysosomal Acid Lipase Deficiency: Paving the Path for an Early Diagnosis."— Presentation transcript:

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

2

3 Program Goals

4 LAL-D

5 Prevalence of LAL-D

6

7 LAL-D in Adults and Children

8 Histology

9 Histology (cont)

10 Histology: Differential Diagnosis

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

12 LAL Blood Tests: Dried Blood, Spot Enzyme Assay

13 Differential Diagnosis

14 Liver Pathology: Mimics

15 Making the Final Diagnosis

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

17 LAL-D Is Characterized by Dyslipidemia

18 LAL-D Is Multisystemic

19 Wolman Disease*

20 Some Patients Do Not Fit the Classic Lipid Profile

21 Management and Treatment of LAL-D

22 ARISE

23 ARISE: Primary Outcome

24 ARISE: Secondary Outcomes

25 LAL-D: Summary

26 Abbreviations


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