Budd-Chiari syndrome in children: Challenges and outcome

Table 1 Summary of various pediatric studies (national) of thrombophilia profile in children with Budd-Chiari syndrome

Ref.	Country	No. of cases	Age group	Disease under evaluation	Proportion of cases with prothrombotic work-up	Yield of prothrombotic work-up, n (%)	Conditions detected
Nagral et al[12]	India	16	4 yr (2-11 yr)	Primary BCS	15/16	4/15 (27)	Protein C deficiency 2; APLA syndrome 1; Antithrombin III deficiency 1
Kathuria et al[13]	India	45	10 yr (2-16 yr)	Primary BCS	12/45 children	8/12 (67)	PNH 1; APLA 4; Protein C deficiency 5; Protein S deficiency 3; Hyperhomocystinemia 2 (60% multiple prothrombotic conditions)
Sharma et al[14]	India	32	9 yr (5-15.5 yr)	Primary BCS	Not available
Alam et al[11]	India	13	9 yr (5-13.5 yr)	Primary BCS	13/13	10/13 (77)	MTHFR mutation 5; Factor V mutation 1; Celiac disease 1
Malik et al[31]	India	11	10 yr (3-16 yr)	Primary BCS	11/11	4/11 (37)	APLA 2; PNH 1; JAK2 1
Shukla et al[32]	India	36	1-10 yr	Primary BCS	36/36	15/36 (41.7)	JAK 2V617F 0; Protein C deficiency 2; Protein S deficiency 2; Antithrombin III deficiency 3; APLA 4; Factor V Leiden 4; High homocysteine level 0; Multiple conditions 0
Shukla et al[32]	India	43	10-19 yr	Primary BCS	43/43	16/43 (37)	JAK 2V617F 5; Protein C deficiency 1; Protein S deficiency 1; Antithrombin III deficiency 3; APLA 4; Factor V Leiden 1; High homocysteine level 4; Multiple conditions 4
Zhou et al[33]	China	35	22 yr (10-25 yr)	Primary BCS	35/35	22/35 (63)	Hyperhomocyteinemia14; APLA 5; JAK2 V617F 1; IBD 1; Behcet disease 1
Dobre et al[34]	England	7	7 yr (4-14 yr)	Primary BCS	7/7	7/7 (100)	JAK2 V617F 2; Protein C deficiency 3; Antithrombin III deficiency 2; PNH 1; Factor V Leiden 1; APLA syndrome 2
Revil-Vilk et al[35]	Canada	171 BCS -31 cases	3.5 yr (2-13 yr)	Venous thrombosis of different sites	171/171	23/171 (13.4)	Factor V Leiden 8; Prothrombin gene mutation 4; Protein S deficiency 2; Protein S deficiency 1; High lipoprotein a 8

PNH: Paroxysmal nocturnal haemoglobinuria; APLA: Anti phospholipid antibody; IBD: Inflammatory bowel disease; JAK: Janus kinase; MTHFR: Methyl tetrahydro folate reductase.