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Clinical Spectrum and
Diagnostic Challenges of
Gaucher's Disease
SILINI Enfal
Pr Abbaci ,Pr Laraba
Bab Eloued Hospital
Insights from a
Retrospective Study
SILINI Enfal
Pr Abbaci ,Pr Laraba
Bab Eloued Hospital
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 ?
TABLE OF CONTENTS
01
02
03
05
Introduction
Methods
Results
Discussion
04
conclusion
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
Objective
01
Objectives
7
3
Outcomes of GD
patients
Diagnostic methods
Clinical
Presentation
2
1
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
9
05
Patients
Outcomes
Results
03
I5 patients diagnosed with GD were
included in the study.
15
Patients
included
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%
Clinical Presentations
HMG &
SMG
73%
Hemorrhagic
appearances
67%
Bone pain
53%
Hyperpigmentation
40%
Interstitiel lung disease and
pulmonary hypertension
7%
Neurologic
manifestations
7%
Clinical Presentation
Follow the link in the graph to modify its data and then paste the new one
here. For more info, click here
14
Diagnosis
diagnosis
Diagnosis was confirmed through histological
examination showing Gaucher's cells and enzymatic
activity assays.
Activity
enzyme assays Histology
16
Symptomatic and specific
Treatment
Treatment
Enzymotheray
Analgesics
Imuglucerase to all
patients
Transfusions
For cases with anemia
However,
irregular prescription of the
specific treatment due to cost
constraints posed challenges
During the follow-Up Period
2007
2023
Worsening symptoms
02
03
Loss of follow -Up
01
Death
KEY NUMBERS
Discussion
04
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.
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.
30 years
old
Age at onste!
CLINICAL DIVERSITY
HEART AND LUNG
INVOLVEMENT
HEPATO-
SPENOMEGALY
NEUROLOGICAL
INVOLVEMENT
Bone
manifestations
26
Cutaneous
manifestations
Bleeding Tendancies
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.
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
60%
Parental Consanguinity
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.
Loss to follow-up was observed in
three patients, emphasizing the
need for comprehensive
monitoring.
JUST ONE
CALL AWAY
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.
● 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.
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.
THANKS!

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

  • 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 ?
  • 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
  • 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
  • 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 Follow the link in the graph to modify its data and then paste the new one here. For more info, click here 14
  • 16. diagnosis Diagnosis was confirmed through histological examination showing Gaucher's cells and enzymatic activity assays. Activity enzyme assays Histology 16
  • 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
  • 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.
  • 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
  • 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.
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