bhs committee: red blood cells disorders · 2013. 2. 14. · 18 2013 red blood cell disorders...
TRANSCRIPT
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1 2013
Red Blood Cell Disorders
1
BHS Committee: Red Blood Cells Disorders
Activities
And
Educational part
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2 2013
Red Blood Cell Disorders
2
Activities
• Recommendations
• Leaflet – follow-up
• Publications
• Annual meeting (SCD)
• Registry
• Biobank/Clinical studies
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3 2013
Red Blood Cell Disorders
3
Activities
• Recommendations
– Antenatal screening for haemoglobinopathies – 2006
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4 2013
Red Blood Cell Disorders
4
Activities
• Recommendations
Precautionary measures
in case of G6PD deficiency
(favism) – 2007
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5 2013
Red Blood Cell Disorders
5
Activities
• Recommendations
2012
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6 2013
Red Blood Cell Disorders
6
Activities
• Leaflet
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7 2013
Red Blood Cell Disorders
7
Activities
• Leaflet
Coordinators:
A. Delannoy
Belgian association
for thalassaemia
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8 2013
Red Blood Cell Disorders
8
Activities
• Publications
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9 2013
Red Blood Cell Disorders
9
Activities
• Publications
265/35
16/1
9/13 58/10
1/- 7/-
2/-
-/-
-/-
SCD/ Beta-thal. major
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10 2013
Red Blood Cell Disorders
10
Activities
• Publications
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11 2013
Red Blood Cell Disorders
11
Activities
• Meeting
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12 2013
Red Blood Cell Disorders
12
Activities
• Belgian registry
Patients with SCD Coordinators:
PQ Lê, A Ferster, B Gulbis,
F Vertongen
INTERNET
Https://www.drepano.be
Consolidated Data
* Search
* Chart
* Export to XLS File
Haemoglopathy UsersConsolidated Data
Enter data
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13 2013
Red Blood Cell Disorders
13
Activities
• Belgian registry - Patients with SCD - Objectives – To create a clinical database called « Belgian Observatory » for
Sickle Cell Syndromes
– To improve follow up and treatment of sickle cell disease
• Online access from everywhere
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14 2013
Red Blood Cell Disorders
14
Activities
• Belgian registry - Patients with SCD - Objectives – To learn about characteristics of this population
– To create a link between practionners
(general, emergency and specialist practionners)
• Unambigous information
• Personalized contact
– Research projects
– State-of-the art, Guidelines
– Information diffusion (associations, Authorities,…)
– Tool for educational projects
– To serve as a structure (framework) for other chronical pathologies
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15 2013
Red Blood Cell Disorders
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Activities
• Belgian registry - Patients with SCD – Objectives – Retrospective part: more than 400 patients
• H.U.D.E.R.F.
• CHU Brugmann
• CHU Saint-Pierre
• CHU Ixelles
• Hôpital Erasme
• Cliniques Saint-Luc
• Hôpital de la Citadelle
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Activities: Biobank – patients with SCD
Consultation • inform consent
• clinical questionnaire
• Special request (for blood sample)
Collection center • Drepano_Biobank
• Bag with tubes labeled, explanatory
Sorting sample
Service
Laboratory (Operating Mode)
Pretreatment of samples - centrifugation
- aliquots
- freezing
Analysis
Storage
R
O
I
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17 2013
Red Blood Cell Disorders
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Activities
• Participation to a European survey: Facilities available for patients with a major haemoglobinopathy? – ENERCA questionnaire www.enerca.org
– Results will be available on the ENERCA website in a “WHITE BOOK”
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18 2013
Red Blood Cell Disorders
18
Activities
• Future: – Creation of a nurse working group on haemoglobinopathies
within the BHS nurse committee
– Belgian registry of patients with SCD: follow-up; how to sustain the registry (we need to hire a data manager and raise funds); decision to open the database in view to use it as a day to day clinical database.
– Recommendations to be reviewed: sickle cell disorders: follow-up of pregnancy
– New recommendation: anaesthesia for patients with SCD or heterozygous for HbS
– Clinical trial: implementation and development of the biobank of adult SCD patients’ samples
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19
Educational program
2013
Red Blood Cell Disorders
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20 2013
Red Blood Cell Disorders
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Sickle cell disorders Transition from paediatrics
• Recommendations based on
– Literature
– National experiences
• Hôpital Universitaire des Enfants Reine Fabiola – Brussels
• Hôpital de la Citadelle - Liège
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21
Sickle cell disorders Transition from paediatrics
0
10
20
30
40
50
SCD B-thal. M.
< 5
5 - 10
11 - 20
21 - 40
> 40
Age (years)
Belgian survey - 2008
N= 75 (22%)
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22 2013
Red Blood Cell Disorders
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Sickle cell disorders Transition from paediatrics
• The dramatic increase in complications with decline of Transfusion, HU prescription and chelation is due in part to inadequate transition
to adult care M. Blinder, # 12 and 338, ASH 2011
18 y.o.
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23 2013
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Sickle cell disorders Transition from paediatrics
Circumstances of death in patients 18 years or older and the relationship to transition to adult care
Patient no.
Age at transition, y
Age at death, y
Chronic complication of sickle cell disease
Circumstances of death
1 N/A* 18.8 Renal failure; dialysis Found dead at home
2 17.9 19.2 None known Acute chest syndrome
3 18.0 18.3 None known Acute chest syndrome-refused transfusion (Jehovah’s Witness)
4 18.2 20.6 None known Fell in hospital while pregnant-cerebral hemorrhage
5 18.3 19.3 None known Acute chest syndrome complicated by multiorgan failure syndrome
6 18.4 23.7 None known Presumed stroke†
7 18.5 18.7 Multiorgan failure syndrome
* Not applicable: transition delayed beyond 18 years of age because of chronic renal failure.
† This was the first patient in the Dallas Newborn Cohort. C.T Quinn et al, Blood 2010
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24 2013
Red Blood Cell Disorders
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Sickle cell disorders Transition from paediatrics
Prepare for
• Autonomy
• Adulthood; responsibility for
management of their condition
(new adverse events)
Prepare and guarantee proper:
• Adult care
• Coordination between
health care staff
• Treatment
• Sharing of information
• A successful transition
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25 2013
Red Blood Cell Disorders
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Sickle cell disorders Transition from paediatrics
Flexible timing of transfer
Prepare transition
very early
Paediatric
Haematologist
Adult
Haematologist
Written transition policy to share information
Education programme for patients and parents
Regular meetings between paediatric and adult teams
Medical consultation
protocols are sent
to the paediatrician
Joint consultation
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26 2013
Red Blood Cell Disorders
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Major haemoglobinopathies Transition from paediatrics
Paediatric
Haematologist
Adult
Haematologist
Coordination between nurses or liaison nurse
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27 2013
Red Blood Cell Disorders
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Major haemoglobinopathies Transition from paediatrics
Paediatric
Haematologist
Adult
Haematologist
Coordination between teams
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28
Message to take home SCD from childhood to adulthood
• Patients in adulthood +++
• Transition must be prepared
• Collaborations between teams are mandatory
2013
Red Blood Cell Disorders
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29 2013
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Adult patients with sickle cell disease (SCD): standards for the clinical care
• Recommendations based on
– Literature
– National experiences
• CHU Brugmann
• UZ Leuven
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SCD Extreme variability in disease severity
• Steady state
• Acute events
– Episodic acute pain
– Infections
– Exacerbation of anaemia
– Vaso-occlusive episodes (ACS, stroke, …)
• Chronic events
– Osteonecrosis
– Retinopathy
– Renal insufficiency
– …
2013
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31 2013
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Adult patients with SCD: Recommendations for regular follow-up
• The goals are:
– To implement education and psychology services
– To prevent
• Infection
• Organ damage
• Chronic SCD related clinical manifestation
– To implement and follow any needed treatment intensification (transfusion regimen, hydroxyurea)
Regular follow-up and confidence in the medical team must be established
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Adulthood Cerebrovascular damages
• Annual evaluation: – Angio-MRI
Ohene-Frempong K. et al
Blood, 1998;91:288-294.
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Adulthood Cardiopulmonary function
• Annual evaluation: – Chest X-Ray – Transcutaneous O2
saturation – ECG – Six-minute walk test – Echocardiogram with
evaluation of tricuspidal regurgitation velocity
• Pulmonary hypertension • French ETENDARD study - 385
SCD patients (end 2012)
– Preliminary conclusions • Tricuspid regurgitant jet
velocity 2.5 m/s is frequent in adult SCD patients (25%)
• PH confirmed by catheterization in only 25% of the cases
• Identification of patients at high risk : NT-proBNP, 6’ walking distance and TRJV + clinical and biological characteristics
Curr Opin Hematol. 2012 May;19(3):149-55.
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Adulthood Avascular necrosis
• Hip >>> shoulder • At 30, HbSS= 30% - HbSC= 50% • Risk factor: pregnancy • Screening – diagnosis
– Pain and lameness – X-ray – MRI (early stage)
• Treatment – As early as possible; reversible stage – Stem cell therapy seems to be a
promising new therapy method in stage 2 (first native x-ray changes are seen as lower radiolucency reflects new bone apposition on dead trabeculae).
• Annual evaluation: – Regular clinical evaluation
• If lameness or pain – X-ray
Drescher W. et al Z Orthop Unfall. 2011 Mar;149(2):231-242. 2013
Red Blood Cell Disorders
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Adulthood Nephropathy
• Prevalence
– Childhood
• Microalbuminuria:
– 26%
– Adulthood
• Albuminuria
– 68%
• Renal insufficiency
– 21%
• Renal insuf.> 60 y.o.
– 85%
1. Dharnidharka 1998 2. Guasch 2006 3. Falk 1992 4. Serjeant 2007
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Adulthood Nephropathy
• Annual evaluation:
– Blood urea, creatinine
– Urine analysis (24H): protein, creatinine clearance
http://jasn.asnjournals.org/content/10/1/187.full
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Adulthood Proliferative sickle retinopathy
• Annual evaluation:
– Anterior structures i.e. slit-lamp biomicroscope
– Posterior and peripheral retina i.e. fluorescein angiography
Goldberg classification
Normal Peripheral
arteriolar
occlusions
Artério-venulair
anastomosis
Retinal
detachment
Vitreous
hemorrhage
Neovascular
Proliferation
Treatment
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Message to take home
• Treatment during childhood (cerebrovascular events, nephropathy, infections…)
• Prevention (avascular necrosis, retinopathy, infection…)
• Importance of close follow-up
Recording steady-state blood results and physiological
measurements (oxygen saturation, blood pressure)
Monitoring frequency of acute complications
Prescription and monitoring of hydroxyurea where appropriate
Early detection and prevention of chronic complications
including cerebrovascular disease (transcranial Doppler
scanning), pulmonary hypertension (echocardiography) and
renal disease (urine albumin:creatinine ratio)
Psychological support
Rees D Lancet 2010:376:2018-31. 2013
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Red blood Cell Disorders Committee - 2012
2013
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40
Committee Red Blood Cell Disorders
• [email protected] • [email protected] • [email protected] • [email protected]
2013
Red Blood Cell Disorders
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