Epidemiological aspects of Budd-Chiari in Egyptian patients: A single-center study

Table 1 Relevant clinical data on patients with Budd-Chiari syndrome (n = 94)

Symptom	n (%)
Abdominal enlargement	84 (89.4)
Abdominal pain	78 (83)
History of previous thrombosis	26 (27.7)
Recurrent abortion (females; 58)	14 (24.1)
Gastrointestinal bleeding	15 (15.9)
Recurrent oral and/or genital ulcers	13 (13.8)
Signs
Ascites	80 (85.1)
Hepatomegaly	78 (83)
Splenomegaly	48 (51.1)
Lower limb edema	46 (48.9)
Dilated abdominal veins	39 (41.5)
Jaundice	36 (38.3)
Abdominal tenderness	34 (36.2)
Encephalopathy	29 (30.9)

Table 2 The primary etiologies of Budd-Chiari syndrome (n = 94)

Etiology		n (%)
FVLM (64 tested)	Homozygous	10 (15.6)
	Heterozygous	24 (37.5)
MTHFR (60 tested)	Homozygous	8 (13.3)
	Heterozygous	23 (38.3)
PGM (60 tested)	Homozygous	1 (1.7)
	Heterozygous	2 (3.3)
JAK2 (MPD) (62 tested)	+	18 (29)
Primary APA	+	16 (17)
Secondary APA	+	11 (11.7)
Behçet’s disease	+	12 (12.8)
Protein C deficiency	+	4 (4.3)
Antithrombin III deficiency	+	4 (4.3)
Protein S deficiency	+	1 (1.1)
PNH	+	2 (2.1)
Hormonal therapy (58 females)	+	9 (15.5)
Pregnancy-related (58 females)	+	10 (17.2)

FVLM: Factor V Leiden mutation; MTHFR: Methylene tetrahydrofolate reductase; PGM: Prothrombin gene mutation; JAK2: Janus tyrosine kinase-2; MPD: Myeloproliferative disorder; APA: Antiphospholipid antibody syndrome; PNH: Paroxysmal nocturnal hemoglobinuria.

Table 3 Relationship between gender and etiology in patients with Budd-Chiari syndrome (n = 94)

Etiology		Gender n (%)		χ²	P value	Sig
		Male	Female
PC deficiency	+	1 (2.90)	3 (5.20)		1	NS
PS deficiency	+	1 (2.90)	0 (0.00)		0.38	NS
AT III deficiency	+	2 (5.70)	2 (3.40)		0.63	NS
FVLM	Homozygous	5 (20.80)	5 (12.50)	1.77	0.18	NS
	Heterozygous	6 (25.00)	18 (45.00)
PGM	Homozygous	0 (0.00)	1 (2.60)	1.54	0.21	NS
	Heterozygous	0 (0.00)	2 (5.10)
MTHFR	Homozygous	6 (28.60)	2 (5.10)	8.41	0.01	HS
	Heterozygous	9 (42.90)	14 (35.90)
JAK2 (MPD)	+	6 (28.60)	12 (29.30)	0.003	0.95	NS
Primary APA	+	5 (13.90)	11 (19.00)	0.4	0.52	NS
Secondary APA	+	1 (2.80)	10 (17.20)		0.05 S
Behçet’s disease	+	11 (30.60)	1 (1.70)	< 0.001 VHS
PNH	+	1 (2.80)	1 (1.70)		1 NS

Sig: Significance; NS: Not significant; S: Significant; HS: Highly significant; VHS: Very highly significant; PC: Protein C; PS: Protein S; AT: Antithrombin; FVLM: Factor V Leiden mutation; PGM: Prothrombin gene mutation; MTHFR: Methylene tetrahydrofolate reductase; JAK2: Janus tyrosine kinase-2; MPD: Myeloproliferative disorder; APA: Antiphospholipid antibody syndrome; PNH: Paroxysmal nocturnal hemoglobinuria.

Table 4 Duplex ultrasound findings in patients with Budd-Chiari syndrome (n = 94)

Ultrasound finding		Patients n (%)
Hepatomegaly		78 (83)
Splenomegaly		48 (51.1)
No. of instances of occluded HV	0	3 (3.2)
	1	2 (2.1)
	2	12 (12.8)
	3	77 (81.9)
RHV occlusion		85 (90.4)
MHV occlusion		91 (96.8)
LHV occlusion		87 (92.6)
IVC occlusion		22 (23.4)
PV occlusion		5 (5.3)
Anatomical localization of thrombosis at presentation	Isolated HV	70 (74.5)
	Combined HV and IVC	16 (17)
	Isolated IVC	3 (3.2)
	Associated PV thrombosis	5 (5.3)

HV: Hepatic vein; RHV: Right hepatic vein; LHV: Left hepatic vein; MHV: Middle hepatic vein; PV: Portal vein; IVC: Inferior vena cava.

Table 5 Relationship between etiology and radiological findings [occluded vein(s)] in patients with Budd-Chiari syndrome

Etiology		Anatomical localization of thrombosis at presentation n (%)
		HV only	HV and PV	HV, PV and IVC	HV and IVC	IVC	χ2	P value	Sig
PC deficiency	+	3 (4.3)	0 (0.0)	0 (0.0)	1 (6.3)	0 (0.0)	0.001	0.99	NS
PS deficiency	+	1 (1.4)	0 (0.0)	0 (0.0)	0 (0.0)	0 (0.0)	0.32	0.58	NS
AT III Deficiency	+	3 (4.3)	0 (0.0)	0 (0.0)	1 (6.3)	0 (0.0)	0.001	0.99	NS
FVLM	Homo	9 (17.0)	0 (0.0)	1 (12.5)	0 (0.0)	9 (17.0)	0.03	0.85	NS
	Hetero	19 (35.8)	2 (100.0)	3 (37.5)	0 (0.0)	19 (35.8)
PGM	Homo	1 (2.0)	0 (0.0)	0 (0.0)	0 (0.0)	1 (2.0)	0.52	0.47	NS
	Hetero	2 (4.0)	0 (0.0)	0 (0.0)	0 (0.0)	2 (4.0)
MTHFR	Homo	7 (14.0)	0 (0.0)	1 (14.3)	0 (0.0)	7 (14.0)	0.29	0.59	NS
	Hetero	19 (38.0)	0 (0.0)	3 (42.9)	1 (10.0)	19 (38.0)
JAK2 (MPD)	+	16 (31.4)	2 (100.0)	0 (0.0)	0 (0.0)	0 (0.0)	2.08	0.15	NS
Primary APA	+	9 (12.9)	0 (0.0)	1 (33.3)	6 (37.5)	0 (0.0)	2.58	0.11	NS
Secondary APA	+	9 (12.9)	0 (0.0)	0 (0.0)	1 (6.3)	1 (33.3)	0.02	0.88	NS
Behçet’s disease	+	2 (2.9)	0 (0.0)	2 (66.7)	7 (43.8)	1 (33.3)	21.25	< 0.0001	HS
PNH	+	2 (2.9)	0 (0.0)	0 (0.0)	0 (0.0)	0 (0.0)	0.62	0.43	NS

Sig: Significance; NS: Not significant; HS: Highly significant; HV: Hepatic vein; PV: Portal vein; IVC: Inferior vena cava; PC: Protein C; PS: Protein S; AT: Antithrombin; FVLM: Factor V Leiden mutation; PGM: Prothrombin gene mutation; MTHFR: Methylene tetrahydrofolate reductase; JAK2: Janus tyrosine kinase-2; MPD: Myeloproliferative disorder; APA: Antiphospholipid antibody syndrome; PNH: Paroxysmal nocturnal hemoglobinuria.

Table 6 Etiologies of Budd-Chiari syndrome described in previous studies and in the current work

Etiology		Reported rate1	Rate in current study
PC deficiency		20%	4.30%
PS deficiency		7%	1.10%
AT III deficiency		5%	4.30%
FVLM	Homozygous	NA	15.60%
	Heterozygous	20%	37.50%
PGM	Homozygous	NA	1.70%
	Heterozygous	7%	3.30%
MTHFR	Homozygous	NA	13.30%
	Heterozygous	NA	38.30%
JAK2-positive (MPD)		50%	29%
Primary APA		10%	17%
Secondary APA			11.70%
Behçet’s disease		5%	12.80%
PNH		2%	2.10%
Hormonal therapy (58 females)		50%	15.50%
Non-identified etiology		5%	8.50%

NA: Not available; PC: Protein C; PS: Protein S; AT: Antithrombin; FVLM: Factor V Leiden mutation; PGM: Prothrombin gene mutation; MTHFR: Methylene tetrahydrofolate reductase; JAK2: Janus tyrosine kinase-2; MPD: Myeloproliferative disorder; APA: Antiphospholipid antibody syndrome; PNH: Paroxysmal nocturnal hemoglobinuria.

¹Reported by Valla in 2009[1] according to Primignani et al[12,14], Patel et al[15], Colaizzo et al[16], and Kiladjian et al[17].