Extrahepatic portal vein thrombosis in children and adolescents: Influence of genetic thrombophilic disorders

Table 1 Characteristics of the patients (mean ± SD)

	Controls	Patients
Age	6 yr 9 mo	7 yr 8 mo
Sex	15 males	20 males
INR (%)	1.05 ± 0.09	1.35 ± 0.21
ALT (UI/L)	31.15 ± 13.83	25.45 ± 14.71
AST (UI/L)	37.23 ± 11.86	31.42 ± 11.90
GGT (UI/L)	16.46 ± 16.89	17.68 ± 18.40
Albumin (g/dL)	4.16 ± 0.48	3.88 ± 0.37
Bil/tot (mg/dL)	0.78 ± 0.13	0.81 ± 0.27
Bil/dir (mg/dL)	0.12 ± 0.11	0.18 ± 0.14
ALP (UI/L)	404.09 ± 154.90	515.97 ± 180.44

INR: International normalized ratio; ALT: Aspartate aminotransferase; AST: Alanine aminotransferase; GGT: γ-glutamyl transpeptidase; Bil/tot: Bilirubin/total; Bil/dir: Bilirubin/direct; ALP: Alkaline phosphatase.

Table 2 Distribution of type and prevalence of mutations in study subjects n (%)

Type of mutations	Prevalence of mutations
	Control (26)	Case (31)	Total (57)
Normal	20 (76.9)	10 (32.3)	30 (52.6)
Abnormal MTHFRC677T
Heterozygous	6 (23.1)	17 (54.8)	23 (40.4)
Homozygous	0 (0)	4 (12.9)	4 (7.0)

P = 0.001. MTHFR: Methylenetetrahydrofolate reductase.

Table 3 Frequency of inherited thrombophilic abnormalities n (%)

Any thrombophilic factor	Control	Case	Total
No	25 (96.2)	21 (67.7)	46 (80.7)
Yes	1 (3.8)	10 (32.3)	11 (19.3)
Total	26 (100)	31 (100)	57 (100)

P = 0.008 (Fisher’s exact test).

Table 4 Frequency of thrombophilic disorders in children and adolescents with portal vein thrombosis n (%)

Study	Coagulation inhibitor protein deficit		Gene mutations
	PC	PS	FVL	PTHR	MTHFR
Dubuisson et al[13] (n = 20)	9 (45)	13 (65)	NP	NP	NP
Uttenreuther-Fischer et al[2] (n = 23)	NP	NP	2 (9)	NP	NP
Heller et al[1] (n = 24)	NP	NP	4 (17)	0	1 (4)
Pinto et al[12] (n = 14)	6 (43)	3 (21)	0	1 (7)	3 (21)
Current study (n = 31)	4 (13)	4 (13)	2 (6.5)	3 (9.7)	16 (67.7)

PC: Protein C; PS: Protein S; FVL: Factor V Leiden; PTHR: Prothrombin; MTHFR: Methylenetetrahydrofolate reductase; NP: Not provided.