12th Congress of the European Hematology ... - Haematologica

12 th Congress of the European Hematology Association
1197
SICKLE CELL RETINOPATHY (SCR)
A. Nouel
Universidad de Oriente, CIUDAD BOLÍVAR, Venezuela
Sickle Cell Anemia (SCA) is caused by a point mutation in the hemoglobin
gene which results in hemoglobin polimerization when desoxygenated
and in a sickled like shape erythrocyte that becomes less
deformable.As the luminal diameter of retinal capillaries is less than the
RBC diameter, they have difficulty traversing them and become trapped.
The ocular manifestations of SCR, range from transient flashes and
floaters to a sudden and profound decrease in vision. The abnormalities
result from vaso-occlusion at the arteriolar bifurcations predominantly
in the peripheral retina. Based on funduscopic observations and fluorescein
angiography SCR is classified as Nonproliferative (NPSR) or proliferative
(PSR). Main NPSR abnormlities: comma-shaped vessels, Black
Sunburst, venous tortuosity, Salmon-Patch hemorrhages, silver wiring of
retinal arterioles, glistening refractile spots, angoid streaks etc PSR is
classified in 5 stages (Goldberg): peripheral arteriolar occlusion, peripheral
arteriolar-venular anastomoses, neovascularization, vitreous hemorrhage
and retinal detachment. Hyphemas have also been described.
Aims. The purpose of this study was to find the incidence and type of
ocular lesions that more frequently occur in SCA patients (pts) from our
hospital. A total of 25 pts older than 13 years(17 female,8 males) were
enrolled. Pts with diabetes and arterial hypertension were excluded.
Correlation with age, sex, severity of anemia or Hb F levels was not
done. Methods. Measurement of visual acuity, pupillary reactivity, evaluation
of the anterior structures of the eye (slit-lamp biomicroscope)
and the posterior and peripheral retina through a dilated pupil using
direct and indirect ophthalmoscopy, including fluorescein angiography
and fundus photographs (only in those with abnormal findings). Refractive
defects and Color Vision tests complemented the study. Results.
36% of the patients referred visual symptoms: phosphens (100%) and
impairment of visual acuity (33%). Fundus abnormalities in 23 out 25
pts (92%), in 87.5% of those asymptomatic and in all who presented the
above symptoms. NPSR in all 23 pts: comma sign 72%, venous tortuosity
78.26%, retinal pigmentary changes 47.8% (Black Sunburst 17.4%)
Intraretinal and choroid hemorrhages were others abnormalities found.
8 pts (34.78%) with PSR had: arteriolar occlusion, peripheral arteriolarvenular
anastomoses and neovascularization (Sea-Fans) each in 50%,
retinal detachment in 1 case (12.5%). Refractive errors in 92%, hypermetropia
with or without astigmatism 20 cases (86%), no myopia or
abnormal color vision found. Conclusions. phosphens was found in all
symptomatic patients, this could probably alert the physician to fundus
lesions in SS pts. Venous tortuosity an early and common characteristic
of SCR was found in a higher incidence that is usually reported (78.3%
vs 47%) although Black Sunburst was lower, others pigmented lesions
made a total of 65.2% of cases. PSR in more than a third of our cases
was higher than usually reported (34.7% vs 3%) This incidence needs
to be confirmed with a higher number of patients. Because of the high
rate of asymptomatic pts, early stages of eye disease go undetected
unless a frequent eye exam beginning early in life is performed by a specialist
1198
HIGHLIGHTING THE USEFULNESS OF FLOW CYTOMETRY AS A DIAGNOSTIC TOOL
IN A RARE CASE OF BERNARD-SOULIER SYNDROME
L. Dova, 1 P. Kaiafas, 2 M. Ovrenovits, 1 G. Baxevanos, 3 N. Kolaitis, 1
G. Vartholomatos1 1 University Hospital of Ioannina, Greece, IOANNINA, Greece; 2 Blood Bank of
‘Xatzikosta’ Hospital, MESOLOGGI, Greece; 3 Molecular Biology Unit,
IOANNINA, Greece
Background. Bernard-Soulier syndrome (BSS) or giant platelet syndrome
is a severe but infrequent congenital platelet disorder caused by
qualitative or quantitative abnormalities in the platelet membrane von
Willebrand factor (vWF) receptor complex. The vWF factor receptor,
also known as platelet glycoprotein (GP) Ib/IX/V complex mediates
platelet adhesion to the subendothelial matrix after vascular wall lesion
in order to accomplish haemostasis averting any possibly baneful haemorrhage.
BSS as a member of the heterogeneous group of inherited giant
platelet disorders (IGPDs) is characterized by thrombocytopenia, large
dysfunctional platelets and incapability in vWF factor induced nummulation.
BSS’s clinical features include prolonged bleeding time, mucosal
bleeding, purpuric skin bleeding, epistaxis, ecchymoses, and menorrhagia.
Aim. In this study we delineate the glycoprotein expression profile
438 | haematologica/the hematology journal | 2007; 92(s1)
of a rare case of BSS in a young asymptomatic female using ex vivo phenotyping
technology by means of flow cytometry. In this report we.
This method has the advantage of being a rapid and sensitive tool for
the study of platelet disorders assessing the size of platelets and their surface
antigenic profile by qualitation and quantitation the expression of
various receptors. Methods. A young Greek woman presented in our
outpatients' department of Haematology for investigation of her low
platelet count (50.000/µL) which was identified after a routine laboratory
check-up. Levels of vWF were within the normal range and turbidimetric
platelet aggregation showed no response after stimulation via
several concentrations of ristocetin. BSS was suspected and flow cytometric
analysis was performed to confirm the diagnosis.We have used
flow cytometry analysis, in a Becton-Dickinson FACScan flow cytometer,
to study the binding efficacy of murine monoclonal antibodies to
platelets. Anti-GPIIb-IIIa, anti-GPIV, anti-GPIX, and anti-GPIb constituted
the monoclonal fluorescent quartet we have used to asses the BSS
glycoprotein expression status. The analysis was performed in one
age/sex matched control and in one patient suffering from the syndrome.
Our analysis failed to identify variations on the expression level of the
glycoprotein IV. However, great protein quantity differences revealed
when we compared the expression of the glycoproteins IX and Ib
between the control and the BSS patient (? 35-fold and 143-fold decrease,
respectively. Results. With a view to distinguish the red blood cell subpoplulations,
CD41 immunostaining was performed for an accurate
platelet determination as the very large platelets in BSS are often mistaken
as lymphocytes and might overlay to leukocyte region. After the
CD41-electronically gating of the platelet subpopulation, extended
research was carried out, measuring the surface expression of platelet
glycoproteins. CD36 flow cytometric analysis showed no difference in
the expression of glycoprotein IV among the patient and the control.
Meanwhile CD42a and CD42b immunostaining revealed great differences
in the GPIX and GPIb expression profile. In the patient the GPIX
was expressed at lower levels (2,6%) than in the normal control
(90,46%) and the expression level of GPIb was also, markedly reduced
(0.61% compared to 87,33%). Conclusions. In the cytomic era the establishment
of new technologies capable to unravel the pathogenetic mechanisms
and to diagnose rare and difficult to distinguish diseases such as
the Bernard-Soulier syndrome becomes a necessity. Flow cytometry
gives the answer against this challenge, being a many-valued, rapid and
precise method in phenotyping the glycoprotein profile of the platelets.
1199
IDENTICAL PROGNOSIS FOR TRANSPLANTED AND NON-TRANSPLANTED PATIENTS WITH
HEMATOLOGICAL MALIGNANCY ADMITTED TO THE INTENSIVE CARE UNIT
C. Ferra, 1 P. Marcos, 2 M. Morgades, 1 M. Misis, 2 M.L. Bordeje, 3
A. Oriol, 4 N. Lloveras, 5 B. Xicoy, 6 J.M. Sancho, 4 M. Batlle, 4
J.T. Navarro, 4 J. Grau, 4 E. Orna, 4 J. Klamburg, 4 E. Feliu, 4 J.M. Ribera4 1 ICO- H. Germans Trias i Pujol, BADALONA, Spain; 2 Intensive Care Department.
HGTP.UAB, BADALONA, Spain; 3 Intensive Care Department. HGTP.
UAB, BADALONA, Spain; 4 Hematology Department. ICO. HGTP,
BADALONA, Spain; 5 Hematology Department. ICO - HGTP. UAB,
BADALONA, Spain; 6 Hematology Department. ICO-HGTP. UAB,
BADALONA, Spain
Background and aim. There is scarce information on the influence of
stem cell transplantation (SCT) on the prognosis of patients with hematological
malignancies admitted to an intensive care unit (ICU). The
objective of this study was to compare the outcome of transplanted and
non-transplanted patients transferred to the ICU for a life-threatening
complication. Patients and Methods. The mortality during ICU admission,
long-term survival and the prognostic factors for survival were analyzed
and compared in transplanted vs. non-transplanted patients.
Results. 116 critically-ill patients with a hematological malignancy transferred
to the ICU in a single institution from January 2000 to February
2007. Thirty patients had received SCT prior to ICU admission (17 autologous
and 13 allogeneic).Transplanted and non-transplanted patients
were comparable for demographic variables except age and disease status.
No differences were found in overall survival or survival after discharge
from ICU between transplanted and non-transplanted patients.
The prognostic factors for survival in transplanted patients were the
need for mechanical ventilation (p