Congenital Prothrombotic Disorders in Children with Peripheral Venous and Arterial Thromboses

Abstract

Aims: To evaluate the prevalence of congenital prothrombotic disorders in children with peripheral venous and arterial thromboses. Methods: Deficiencies in antithrombin (AT), proteins C (PC) and S (PS), and increased lipoprotein (a), and the presence of factor V (FV) G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) mutations were investigated. Results: Forty-eight patients (mean age, 3.4 years) were investigated. Of these patients, 23 had venous thrombosis, 22 had arterial thrombosis, and 3 had both. No patients had AT, PC or PS deficiency. FV G1691A mutation was present in 2 (7.6%) and 3 (12%) patients with venous and arterial thromboses, respectively. The prothrombin G20210A mutation was present in 1 (4%) patient with arterial thrombosis. Homozygous MTHFR C677T mutation was detected in 4 (18%) and 2 (9%) patients with venous and arterial thromboses, respectively. Increased lipoprotein (a) was present in 2 (10%) and 1 (4.5%) patients with venous and arterial thromboses, respectively. Regarding acquired risk factors, 79% of all thrombotic events were related to catheter usage. An underlying disease was present in 96% of the patients. Conclusions: Compared to acquired risk factors, congenital prothrombotic disorders are rarely present in children with peripheral venous and arterial thromboses. These results do not support general screening of children with venous and arterial thromboses for congenital prothrombotic disorders.

Lipoprotein(a), Thrombophilia and Venous Thrombosis

“…Nevertheless, the potential contribution of this intriguing lipoprotein to the pathogenesis of venous thrombosis is debated. In agreement with the article of Albisetti et al [2] which recently appeared in this journal, results of personal and other investigations were not in support of a general Lp(a) screening of patients with venous thromboses in both the children [3] and the adult [4][5][6] settings. On the other hand, other studies identified increased Lp(a) levels in patients with venous thrombosis [7][8][9][10][11] , especially in uncommon and atypical sites, such as the kidney [12] and liver [12] as well as the retinal [13,14] and cerebral veins [15,16] , concluding that Lp(a) may be somehow in-ship cannot be established.…”

Inferior vena cava syndrome in neonates: An evidence‐based systematic review of the literature

“…On the other hand, lipoprotein (a) has been linked to thrombosis in vitro . Lipoprotein (a) levels > 30 mg/dL pose a risk for childhood VTE . However, transplacental transfer of lipoprotein (a) is unlikely based on its large molecular size, and maternal levels are probably not an independent risk factor for neonatal thrombosis.…”

Laboratory Investigation of Thrombophilia / LABORATORIJSKO ISPITIVANJE TROMBOFILIJA

“…However, this committee acknowledged that further clinical studies are needed to substantiate this recommendation (29). In recent years, there have been continuous debates related to unselected and uniform thrombophilia testing in all children with thrombosis (30)(31)(32). It is obvious that further prospective multicentre clinical studies are needed in order to obtain definitive recommendations regarding thrombophilia testing in children with throm bosis.…”