Home  About us  Contact
 

Thrombophilic Abnormalities (thrombophilic + abnormality)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Laboratory findings associated with thrombophilia are not more common in inflammatory bowel disease

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2000
K. K. Sundaram
Summary Thromboembolic disease (TED) has been recognized as a complication of inflammatory bowel disease (IBD) since the 1930s ( Bargen & Barker 1936). The relative contributions of inherited or acquired thrombophilia and the inflammatory response to the mechanism of this tendency is unclear. Thrombotic events are more common in active disease although significant numbers also occur spontaneously, when the disease is in clinical remission ( Talbot et al. 1986 ; Jackson et al. 1997 ). Studies looking at the prevalence of specific thrombophilic states such as Antithrombin III deficiency ( Jackson et al. 1997 ; Lake, Stauffer & Stuart 1978; Cianco et al. 1996 ; Ghosh et al. 1983 ), Factor V Leiden mutation (APC Resistance) ( Jackson et al. 1997 ; Probert et al. 1997 ; Ardizzone et al. 1998 ; Liebman et al. 1998 ), anticardiolipin antibodies ( Ciancio et al. 1996 ), Protein C ( Wyshock, Caldwell & Crowley 1988; Korsten & Reis 1992) and Protein S deficiencies ( Jorens et al. 1990 ; Aadland et al. 1992 ) in IBD have been contradictory or equivocal. We had previously found that IBD patients with a history of TED are not more likely to have a laboratory thrombophilic abnormality than those with uncomplicated disease. We also demonstrated that the prevalence of heterogenous laboratory thrombophilic abnormalities (usually minor) in all IBD patients may be as high as 60%, much higher than the recognized prevalence of TED ( Lim, Jones & Gould 1996). We wondered how this would compare with the healthy non-IBD population. We have therefore explored the prevalence of such thrombophilic abnormalities in a group of IBD patients who had no history of TED and compared them with healthy age and sex matched controls. [source]

Thrombosis in inherited factor VII deficiency

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 10 2003
G. Mariani
Summary., Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic events were arterial in one case, disseminated intravascular coagulation in another and venous in seven. Gene mutations were characterized in eight patients: three were homozygous, three compound heterozygous and two heterozygous. FXa and IIa generation assays were consistent with the genetic lesions. One patient was heterozygous for the FV Leiden and one for the FIIG20210A mutation. In seven patients, surgical interventions and/or replacement therapies had a close temporal relationship with thrombosis, while in the remaining, events were apparently spontaneous. Thromboses were not associated with any specific age, phenotype, mutation zygosity or thrombophilic abnormalities. In particular, severe FVII deficiency did not seem to offer protection from strong thrombosis risk factors such as surgery and replacement therapy. [source]

Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C

BRITISH JOURNAL OF HAEMATOLOGY, Issue 3 2003
A. D. Mumford
Summary. We report a kindred in which two siblings suffered spontaneous venous thromboses in the second decade of life. Further investigation showed reduced coagulation factor V (FV) activity and activated protein C resistance (APCR) ratio but no other thrombophilic abnormalities. The reduction in APCR ratio persisted in a modified APCR assay in which FV activity was normalized between test and control plasmas. Analysis of the FV gene showed that the thrombotic individuals had a complex genotype that included two novel point mutations c.529G>T and c.1250T>C resulting in FV E119X and FV I359T substitutions inherited on different alleles. Individuals in the kindred with FV E119X or FV I359T substitutions alone were asymptomatic. We suggest that the FV I359T substitution confers pro-thrombotic risk and APCR, but that this is only clinically manifest when co-inherited with the FV E119X allele. The FV I359T substitution creates a new consensus sequence for N-linked glycosylation within the FV heavy chain and we speculate that this abnormal glycosylation may disrupt activated protein C-mediated proteolysis of the variant FV and FVa. [source]

Laboratory findings associated with thrombophilia are not more common in inflammatory bowel disease

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2000
K. K. Sundaram
Summary Thromboembolic disease (TED) has been recognized as a complication of inflammatory bowel disease (IBD) since the 1930s ( Bargen & Barker 1936). The relative contributions of inherited or acquired thrombophilia and the inflammatory response to the mechanism of this tendency is unclear. Thrombotic events are more common in active disease although significant numbers also occur spontaneously, when the disease is in clinical remission ( Talbot et al. 1986 ; Jackson et al. 1997 ). Studies looking at the prevalence of specific thrombophilic states such as Antithrombin III deficiency ( Jackson et al. 1997 ; Lake, Stauffer & Stuart 1978; Cianco et al. 1996 ; Ghosh et al. 1983 ), Factor V Leiden mutation (APC Resistance) ( Jackson et al. 1997 ; Probert et al. 1997 ; Ardizzone et al. 1998 ; Liebman et al. 1998 ), anticardiolipin antibodies ( Ciancio et al. 1996 ), Protein C ( Wyshock, Caldwell & Crowley 1988; Korsten & Reis 1992) and Protein S deficiencies ( Jorens et al. 1990 ; Aadland et al. 1992 ) in IBD have been contradictory or equivocal. We had previously found that IBD patients with a history of TED are not more likely to have a laboratory thrombophilic abnormality than those with uncomplicated disease. We also demonstrated that the prevalence of heterogenous laboratory thrombophilic abnormalities (usually minor) in all IBD patients may be as high as 60%, much higher than the recognized prevalence of TED ( Lim, Jones & Gould 1996). We wondered how this would compare with the healthy non-IBD population. We have therefore explored the prevalence of such thrombophilic abnormalities in a group of IBD patients who had no history of TED and compared them with healthy age and sex matched controls. [source]

Clinical features and outcome of pulmonary embolism in children

BRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2008
Tina T. Biss
Summary Pulmonary embolism (PE) is rare in childhood but evidence suggests it is under-recognised. Children diagnosed with PE at a large tertiary centre over an 8-year period were retrospectively reviewed. Fifty-six children with radiologically proven PE were identified, 31 males and 25 females, median age 12 years. Eighty-four per cent had symptoms of PE. Risk factors for thromboembolism were present in 54 patients (96·4%); most commonly immobility (58·9%), central venous line (35·7%) and recent surgery (28·6%). Investigation revealed a thrombophilic abnormality in 14/40 patients (35%). Concurrent deep vein thrombosis was confirmed in 31 patients (55·4%), predominantly lower limb. D dimer was elevated at presentation in 26/30 patients (86·7%). Eight patients underwent systemic thrombolysis. An inferior vena cava filter was placed in five patients. Therapy was complicated by major haemorrhage in 12 patients (21·4%). The majority (82·1%) had complete or partial resolution of PE following a median of 3 months anticoagulation. Seven patients had a recurrent thromboembolic event and 12 patients died (mortality 21·4%); five due to thromboembolism (8·9%) and two due to haemorrhage. Risk factors for PE in children are distinct from adults and morbidity and mortality is significant. Multicentre prospective studies are required to determine optimal treatment and long-term outcome of childhood PE. [source]