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

12 th Congress of the European Hematology Association
0817
THROMBOPHILIC RISK FACTORS AMONG 16 LEBANESE PATIENTS WITH CEREBRAL
VENOUS AND SINUS THROMBOSIS
Z. Otrock, A. Taher, W. Shamseddeen, R. Mahfouz
American University of Beirut Medical Ct, BEIRUT, Lebanon
Background. Cerebral venous and sinus thrombosis (CVST) is a multifaceted
disorder. It has multiple predisposing factors including pregnancy
and postpartum state, surgery, head trauma, arterio-venous malformations,
infection, paraneoplastic and autoimmune disease, and particularly
the use of oral contraceptives. In addition, inherited blood coagulation
disorders play an important role in the development of CVST.
Aims. In the present study, the frequency of inherited thrombophilic risk
factors among 16 CVST patients has been evaluated. Methods. Sixteen
patients, diagnosed with CVST at the American University of Beirut
Medical Center, were identified by medical chart review and thrombophilia
screening. We have tested these patients for the prothrombotic
mutations G20210A of the Factor II gene and G1691A of the factor V
Leiden gene, and the C677T methylenetetrahydrofolate reductase
(MTHFR) gene. We also assessed the presence of acquires thrombophilia
(lupus anticoagulant and anticardiolipin antibodies) and other risk factors
(pregnancy and postpartum state, surgery, paraneoplastic disease,
and the use of oral contraceptives). Results. Of the 16 CVST patients, half
were female and the mean age was 22.9 years (range: 1-46 years). Five
out of the 16 CVST patients (31.2%) showed the G1691A mutation of
factor V (4 were heterozygous and 1 was homozygous). The frequency
of the C677T MTHFR genotype was 50% (8/16) in patients (2 of them
were homozygous). Four of the patients (25%) had both factor V Leiden
and MTHFR mutation. None of the patients expressed the G20210A
Factor II allele variant. Three of the patients had positive antiphospholipid
antibodies; one of them was heterozygous for factor V Leiden and
MTHFR mutations. At the time of CVST, 2 females were taking oral contraceptives;
one of them was homozygous for factor V Leiden (this was
the only patient in this series to have a positive family history of venous
thromboembolism). Four patients were known to have a malignancy; 2
had non-Hodgkin’s lymphoma, 1 had acute lymphoblastic leukemia and
the last had breast cancer. Conclusions. Despite the limitation of sample
size, we identified an inherited coagulopathy at high rate in our patients.
Combined inherited thrombophilia was also present in 25% of patients.
In addition, the prevalence of acquired thrombophilia and other contributing
factors was also high. This finding supports the impression of
a multifactorial process leading to CVST in Lebanese patients.
0818
GENETIC POLYMORPHISM OF HEMOCOAGULATION FACTORS IN PATIENTS WITH PORTAL
THROMBOSIS
E. Sysoeva, 1 E. Lukina, 1 G. Sukhanova, 1 E. Voronkova, 1 N. Khoroshko, 1
S. Vasiljev, 1 E. Kitsenko, 2 E. Lyubiviy, 2 A. Eramishantsev2 1 National Research Center for Hematology, MOSCOW; 2 National Research
Center for Surgery, MOSCOW, Russian Federation
Background. the prehepatic portal hypertension due to portal thrombosis
was belived to be a rare condition (about 10% of all cases of portal
hypertension). Chronic myeloproliferative disorders (MPD) were
considered to be the main cause of thrombotic complications in adult
patients (pts), and thrombophilia - to be a predisposing factor. Aims. To
study genetic polymorphism of hemocoagulation factors in patients
with portal thrombosis. Materials and Methods. 54 patients (21 males, 33
females, Median age - 43 years) with portal thrombosis confirmed by
Doppler sonography were included into this study. The period from the
first manifestation of portal hypertension (splenomegaly, varicose dilatation
of esophageal veins) to examination in our Center varied from 4 to
480 months (Median 60 months). Only 25 (46%) patients had bone marrow
morphology of myeloproliferative disorders. The other patients
had normal pattern of bone marrow, normal blood picture or cytopenias.
All patients were screened for polymorphism of 10 genes of hemocoagulation
system. Results. Polymorphisms of genes hemocoagulation system
were found in 67% pts, including mutation in genes of methylenetetrahydrofolatereductase
in 26 (48%) pts (5 - homozygous), plasminogen
activator inhibitor-1 (PAI-1) in 22 (41%) pts (8 -homozygous),
β-Fibrinogen-455 G-A heterozygous - in 12 (22%) pts, integrin α II - in
14 (26%) pts (3 - homozygous). Heterozygous mutations in genes factor
V Leiden were found in 2 cases, prothrombin - in 1 pt., factor VII - 4
pts, P-selectin (CD 162) - in 4 pts. The majority of patients (35%) had
combination of 3 and more polymorphisms. Combination of MPD and
polymorphisms of genes hemocoagulation system was found in 23
306 | haematologica/the hematology journal | 2007; 92(s1)
(43%) pts. Conclusions. The use of molecular diagnostic methods reveals
the high frequency of genetic polymorphism of hemocoagulation factors
in patients with portal thrombosis The presence of the hereditary
thrombophilia proves the necessity of prescribing anticoagulant/antiaggregant
therapy in patients with portal thrombosis.
0819
PROTHROMBOTIC RISK FACTORS IN CHILDREN WITH HENOCH-SCHONLEIN PURPURA
E. Kurekci, 1 S. Kalman2, A.A. Atay, 1 B. Hachiamdioglu, 2 H.I. Aydin, 2
Y. Egin3, C. Beyan, 1 F. Gok, 2 N. Akar, 4 O. Ozcan1 1 Gulhane Military Medical Academy, ANKARA; 2 Department of Pediatrics,
ANKARA; 3 Department of Molecular Hematology, ANKARA; 4 Ankara University
School of Medicine, ANKARA, Turkey
Background. Henoch-Shönlein purpura (HSP) is an acute immunoglobulin
A (IgA)'mediated leukocytoclastic vasculitis that affects primarily
children. The dominant clinical features of HSP are cutaneous purpura,
arthritis, abdominal pain, gastrointestinal (GI) bleeding due to bowel
infarction with or without perforation, orchitis, and nephritis. Stroke
may occur in some of the cases. The precise etiology of the disease is
not clear, but HSP typically follows an upper respiratory tract infection.
Yilmaz et al. (2005) reported that in patients with HSP, fibrinogen, Ddimer,
TAT complex, PF-1, PF-2, vWAg, and RiC of levels were significantly
higher during the acute phase were than during recovery phase
and significantly higher than those of control subjects. The severity of
disease was significantly correlated with TAT, PF-1, PF-2, vWAg, and Ddimer
levels. These factors may be risks for thrombosis seen in vasculitis.
Several hereditary factors have been associated with increased risk
of thrombosis. Of these, protein C (PC), protein S (PS), anti-thrombin
(AT) and thrombophilic gene mutations [factor V Leiden (FVL), prothrombin
G20210A, and C677T variant of methlenetetrahydrofolate
reductase (MTHFR)] were well described risk factors for thrombosis.
Herein, we report the results of prothrombotic risk factor analysis of
patients with HSP. Methods. Twenty-four patients (16 girls, 8 boys) with
HSP and 48 (32 girls and 16 boys) healthy age- and sex-matched children
were investigated for risk factors for thrombosis (PC, PS, AT, factor VIII,
factor IX, vWF, FVL, prothrombin 20210A, and MTHFR C677T) and its
relation with clinical signs. Blood samples were drawn minimum three
months elapsed from the diagnosis. Results. The rates for skin, joint, GI,
and renal involvement were 100%, 50%, 8%, and 4,1%, respectively.
Plasma PC, PS, AT, factor VIII, factor IX, and vWF levels were within normal
limits. The percentages of FVL and MTHFR mutations were 4.1%
and 54.1%, respectively. Factor V Leiden was found in 10.4% and MTH-
FR mutation in 54.1% of the controls. Prothrombin 20210A was not
found in the patient group whereas it was shown in 2% of the controls.
There was no relationship between the prothrombotic risk factors and
clinical manifestations. Conclusions. Well-known prothrombotic risk factors
possibly do not play a role in clinical manifestations of Henoch-
Schonlein purpura.
0820
THE IG.G ANTI-PROTHROMBIN ANTIBODIES ASSOCIATE WITH THE VENOUS
THROMBOEMBOLISM IN WOMEN
J. Gonzalez-Ordonez, 1 M. Moran-Alcala, 1 C. Fernandez-Canal, 2
M.E. Gonzalez, 2 C. Fernandez-Alvarez, 2 D. Macias, 1 M Peliz1 1 Hospital San Agustin, AVILES; 2 Hospital de Cabueñes, GIJON, Spain
Background. The association of antiphospholipid antibodies with
either vascular thrombosis or fetal morbidity is known as the antiphospholipid
syndrome (APS). Although the pathogenic role in the thrombotic
complications of the APS seems clear for the lupus anticoagulant
the association between thrombosis and other related auto-antibodies
is not obvious. Data of the clinical association between the venous
thromboembolism (VTE) and anti-prothrombin (aPT) antibodies are
scarce and inconclusive. We aim to know any possible association
between these antibodies (using methods for both isotypes) and the
VTE. Population and methods. We studied 79 unrelated patients with
an episode of VTE (objectively diagnosed) and 79 healthy controls of
similar gender and age [in overall 62.0 (12.8) y, 48.7% males]. Among the
patients, 25 (32%) have suffered a pulmonary embolism (PE) with or
without a related DVT and 24 (30%) a recurrent episode of VTE. We performed
a commercial enzyme linked immunoassay (ELISA) for both
isotypes (IgG and IgM) of the aPT antibodies in serum seven months
after the acute thrombotic episode. Results. We tested several arbitraries
and statistical cut-off values obtaining a weak positive association with