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
7
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. 9
A BRIEF STORY
01 02 03 04
Clinical
presentations
Diagnostic
methods
Treatment
modalities
Demographic
caracterestics
9
05
Patients
Outcomes

10. Results
03

11. I5 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
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14

15. Diagnosis

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

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
24
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
26
Cutaneous
manifestations
Bleeding Tendancies

27. CLINICAL DIVERSITY
27
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.

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!