Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors – a multicentre case–control study

Abstract

The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti‐thrombin (AT), protein C (PC), protein S (PS) and anti‐cardiolipin antibodies were investigated in 65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10), and 100 age‐ and sex‐matched healthy controls. FV G1691A was found in 14 babies (heterozygous: RVT n = 9, PVT n = 4; homozygous HVT n = 1) and five controls, the MTHFR TT677 genotype together with increased HCY in four infants with thrombosis (RVT n = 2; PVT n = 1; HVT n = 1) compared with one control, and the PT G20210A variant was present in one control only. PC type I deficiency was diagnosed in three patients (RVT n = 2; PVT n = 1) and AT deficiency in two patients (RVT n = 1; PVT n = 1). Three neonates with spontaneous thrombosis showed FV G1691A combined with Lp(a) and the FV G1691A was combined with the PT G20210A genotype in two infants. Additional triggering factors were reported in 27 patients (41·5%). The overall odds ratios (ORs) and 95% confidence intervals (CIs) with respect to the different thrombosis locations were: RVT (OR/CI: 10·9/3·85–31·1; P < 0·0001), PVT (5·47/1·7–17·6; P < 0·0007) and HVT (3·3/0·58–18·7; P = 0·18). The data presented here suggest that genetic prothrombotic risk factors also play an important role in abdominal venous thrombosis during infancy.

Thrombosis in the critically ill neonate: incidence, diagnosis, and management

“…Whereas congenital thrombophilia was described not to be associated with UVC thrombosis in one report (Turebylu et al 2007), Heller and colleagues published data from the childhood thrombophilia study group indicating an elevated odds ratio for the presence of congenital thrombophilia in neonates with renal, portal, or hepatic venous thrombosis (Heller et al 2000). A recent study confi rms a high prevalence of inherited thrombophilia in neonatal stroke (Suppiej et al 2007).…”

Unilateral Renal Vein Thrombosis and Adrenal Hemorrhage in A Newborn with Homozygous Factor V Leiden and Heterozygous Of MTHFR-677T, MTHFR-1298C Gene Mutations

“…Table 1 describes studies in the literature (between 2000 and 2013) that had reported cases of neonatal RVT with prothrombotic risk factors The presence of factor V Leiden mutation markedly increases the risk for renal vein thrombosis, particularly in neonates. Homozygosity is much rarer and is clinically associated with more severe thrombotic disease [11].…”

“…Heller et al [11] showed that non catheter-related abdominal thrombosis on neonates has a higher incidence of genetic prothrombotic risk factors. Some of these factors are genetic mutations of methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298), plasminogen activator inhibitor-1 4G/5G polymorphism and factor V Leiden mutation.…”

A study on demographic and clinical profile of children with extra hepatic portal venous obstruction and with special reference to thrombophilic factors

“…25 Uttenreuther-Fischer et al identified 4.3% and Heller et al reported 4.2% pediatric portal vein thrombosis patients with hereditary protein C deficiency. [26][27] Seizes et al did not identify any patient with factor V leiden mutation out of total 20 EHPVO children they have studied. 28 According to Sharma et al factor V leiden and prothrombin gene mutations are infrequent in Indian patients with EHPVO.…”