Clinical manifestations and diagnostic challenges of Gaucher's disease.pptx

Gaucher's disease
Hepatomegaly
Splenomegaly

1. Clinical Spectrum and Diagnostic Challenges of Gaucher's Disease SILINI Enfal Pr Abbaci ,Pr Laraba Bab Eloued Hospital

2. Insights from a Retrospective Study   SILINI Enfal Pr Abbaci ,Pr Laraba Bab Eloued Hospital

3. A visually stunning representation of a rare disease, with intricate details and textures that highlight the complexity and diversity of the condition, while also capturing the hope and resilience of those affected by it. Rare Disease ?

4. TABLE OF CONTENTS 01 02 03 05 Introduction Methods Results Discussion 04 conclusion

5. Gaucher's disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase deficiency. While therapy is now available, the epidemiological features and diagnostic difficulties of the disease require further investigation. INTRODUCTION

6. Objective 01

7. Objectives ‹#› 3 Outcomes of GD patients Diagnostic methods Clinical Presentation 2 1

8. Methods 02 “A retrospective study was conducted over a 16-year period (2007-2023) at the Department of Internal Medicine of Lamine Debbaghine Hospital.

9. ‹#› A BRIEF STORY 01 02 03 04 Clinical presentations Diagnostic methods Treatment modalities Demographic caracterestics ‹#› 05 Patients Outcomes

10. Results 03

11. I 5 patients diagnosed with GD were included in the study. 15 Patients included

12. KEY NUMBERS Average age 30 Ranging from 04 to 66 y.o Sex-Ratio 2:13 13 females and 02 males Mean age at diagnosis 30 All patients classified as type 1 GD Parental Consanguinity 60%

13. Clinical Presentations HMG & SMG 73% Hemorrhagic appearances 67% Bone pain 53% Hyperpigmentation 40 % Interstitiel lung disease and pulmonary hypertension 7% Neurologic manifestations 7%

14. Clinical Presentation Follow the link in the graph to modify its data and then paste the new one here. For more info, click here ‹#›

15. Diagnosis

16. diagnosis Diagnosis was confirmed through histological examination showing Gaucher's cells and enzymatic activity assays. Activity enzyme assays Histology ‹#›

17. Symptomatic and specific Treatment

18. Treatment Enzymotheray Analgesics Imuglucerase to all patients Transfusions For cases with anemia

19. However, irregular prescription of the specific treatment due to cost constraints posed challenges

20. During the follow-Up Period 2007 2023

21. Worsening symptoms 02 03 Loss of follow -Up 01 Death KEY NUMBERS

22. Discussion 04

23. A BRIEF STORY study spanning a 16-year period Our primary focus is on type 1 GD, a condition that, as our findings attest, is not uncommon in Algeria.

24. DIAGNOSTIC CHALLENGES Nalysnyk et al. comprehensively reviewed the epidemiology and natural history of GD (1) our study substantiates the persistence delayed diagnosis in clinical practice. revealing delays pertinent to our Algerian context ‹#› 1. Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22:65.

25. 30 years old Age at onste!

26. CLINICAL DIVERSITY HEART AND LUNG INVOLVEMENT HEPATO-SPENOMEGALY NEUROLOGICAL INVOLVEMENT Bone manifestations ‹#› Cutaneous manifestations Bleeding Tendancies

27. CLINICAL DIVERSITY ‹#› 01 02 Our exploration unravels the captivating tapestry of clinical diversity within GD patients, echoing those observations. Biegstraaten et al. (3) Daykin et al. (4) 3. Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008; 31:337. 4. Daykin EC, Ryan E, Sidransky E. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab 2021; 132:49.

28. GENETIC FACTORS Biegstraaten et al Genetic factors, notably parental consanguinity, emerge as significant contributors to GD incidence, aligning with Grabowski et al.'s exploration of genetic susceptibility factors Grabowski et al

29. 60% Parental Consanguinity

30. CALL FOR ACTION The findings serve as a call for heightened awareness, early detection, and collaborative efforts among healthcare practitioners, researchers, and policymakers to improve outcomes for GD patients in the region.

31. Loss to follow-up was observed in three patients, emphasizing the need for comprehensive monitoring. JUST ONE CALL AWAY

32. Conclusion 05 Gaucher's disease, particularly the type 1 form, is not uncommon in Algeria. Diagnostic difficulties were observed in this study. The clinical spectrum of GD varied, with visceral involvement, bone disease, and bleeding being the predominant features.

33. Treatment options, including substitutive enzymotherapy, were effective but hindered by cost-related challenges. Improved awareness, early detection, and regular follow-up are crucial for optimizing outcomes in GD patients.

34. REFERENCES 1. Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22:65. 2. Grabowski GA, Antommaria AHM, Kolodny EH, Mistry PK. Gaucher disease: Basic and translational science needs for more complete therapy and management. Mol Genet Metab 2021; 132:59. 3. Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008; 31:337. 4. Daykin EC, Ryan E, Sidransky E. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes. Mol Genet Metab 2021; 132:49.

35. THANKS!