Baseline characteristics of patients included in the studies
| Study, date (reference no.) . | Study type . | Selected population . | Median age, y (range) . | No. of patients . | JAK2 mutation (homozygous or heterozygous) . | Population controls . |
|---|---|---|---|---|---|---|
| Rossi et al, 2007 (19) | Retrospective cohort | Patients with idiopathic VTE (absence of: known conditions of inherited or acquired thrombophilia; common acquired risk factors for VTE, malignancy, surgery, pregnancy, estrogen consumption, liver failure, and nephritic syndrome; overt Ph− CMPD). | 48 (5-84) | 139 (F/M 81/58) | 3 of 139 JAK2V617F (lower limb DVT 0 of 61, CVT 0 of 13, RVO 0 of 6, SVT 3 of 6, PE 0 of 53) | — |
| McMahon et al, 2007 (21) | Case-control | Patients with catastrophic intraabdominal venous thrombosis. | 47.5 (18-64) | 24¶ (F/M 10/14) | 5 of 24 JAK2V617F | 30 patients with hereditary pancreatitis (mutation in the PRSS1 gene); 0 of 30 JAK2V617F |
| De Stefano et al, 2007 (22) | Retrospective cohort | Patients with idiopathic SVT or CVT, excluding overt cancer. | — | 139 (94 SVT + 45 CVT) | 37 of 139 JAK2V617F (32 of 94 SVT and 5 of 45 CVT**) (27 of 37 were sequenced | — |
| Regina et al, 2007 (23) | Case-control | Patients with HVT or EHPVO in whom liver cirrhosis, infection, and neoplastic disease were excluded. | 39 (22-76) | 44 (F/M 21/23) | 8 of 44 JAK2V617F | |
| Patients with spontaneous DVT of the lower limbs. | 39 (22-76) | 44 (F/M 21/23) | 0 of 44 JAK2V617F | |||
| Remacha et al, 2007 (25) | Case-control | Patients with thrombosis in common locations (consecutive patients with a first thrombotic event < 70 years, excluding those with neoplastic disease, liver failure, nephrotic syndrome). | 48 ± 14 | 295 (F/M 162/133) | 1 of 295 JAK2V617F | 65 patients with other hematologic non-CMPD; 0 of 65 JAK2V617F |
| Boissinot et al, 2006 (28) | Retrospective cohort | Patients with SVT. | 46.8* | 45 (F/M 21/24) | 14 of 45 JAK2V617F | — |
| Patel et al, 2006 (8) | Case-control | Patients with idiopathic BCS, excluding secondary etiology: adult polycystic liver and renal disease, hepatic vein stenosis, inferior vena cava stenosis, Bechet disease, carcinoid tumor, malignant infiltration, hepatocellular carcinoma, pregnancy, sickle cell disease, ulcerative colitis, PV, hydatid liver disease. | 35.5 ± 13.3* | 41 (F/M 26/15) | 24 of 41 JAK2V617F; during follow-up, 11 of 41 developed CMPD; 10 of 11 JAK2V617F | 27 patients with nonthrombotic liver disease (autoimmune, acetaminophen overdose, Gilbert syndrome, and Wilson disease); 0 of 27 JAK2V617F |
| Héron et al, 2007 (29) | Retrospective cohort | Patients with a first or recurrent central or brunch RVO, excluding traumatic, inflammatory, or tumor-related local cause of RVO; history of cancer, CMPD, systemic immunoinflammatory disease, and overt organ failure. | 46.1 ± 11.5* (25-58)† | 11 | 0 of 11 JAK2V617F | — |
| Ugo et al, 2007 (32) | Retrospective cohort | Patients with first unprovoked VTE without major acquired risk factor: surgery, plaster cast, pregnancy or delivery in the past 3 months, cancer. | 73 (18-96) | 394 (F/M 226/168) | 6 of 394 JAK2V617F | — |
| Primignani et al, 2006 (33) | Case-control | Consecutive patients with EHPVO or BCS, excluding neoplastic disease and liver cirrhosis. None of the patients had prior history of CMPD. | 38 (13-72) | 93 (20 BCS + 73 EHPVO) (F/M 56/37) | 34 of 93 JAK2V617F (26 heterozygous, 8 homozygous) | 20 healthy subjects; 0 of 20 JAK2V617F |
| Kiladjian et al, 2008 (34) | Retrospective cohort | Patients with EHPVO or BCS, excluding neoplastic disease and liver cirrhosis. | BCS: 36 (27-46) PVT: 42 (30-57) | 241 (104 BCS + 137 EHPVO) (F/M 129/112) | 94 of 241 JAK2V617F (47 of 104; 47 of 137) | — |
| Abel et al, 2008 (35) | Retrospective cohort | Patients with documented venous thrombosis (DVT, PE, SVT), excluding neoplastic disease, CMPD, or HIT within 1 year of thrombosis. | 52 | 1 of 52 JAK2V617F (0 of 45 DVT of PE 1 of 7 SVT) | — | |
| Colaizzo et al, 2007 (38) | Case-control | Patients with SVT, RVO, CVT, or DVT, excluding cirrhosis or hepatocellular carcinoma. | SVT: 47 (10-86) RVO: 51 (20-81) CVT: 40 (13-55) DVT: 49 (12-81) | 139 SVT (F/M 83/56); 93 RVO (F/M 42/51); 45 CVT (F/M 31/14); 110 DVT (F/M 51/59) | 27 of 139 JAK2V617F (0 of 93 RVO, 0 of 45 CVT, 0 of 110 DVT) | 286 healthy subjects (F/M 163/119; median age, 44 years; range, 21-73 years); 0 of 286 JAK2V617F |
| Pardanani et al, 2008 (39) | Retrospective cohort | Patients with non-SVT and non-CMPD. | 56 (17-93)‡ | 303 (114 DVT, 95 PE, 50 DVT and PE, 10 RVO, 7 CVT, 27 other thromboses) | 4 of 303 JAK2V617F (1 of 10 RVO, 1 of 7 CVT and PE, 1 of 50 DVT and PE, 1 of 95 PE) | — |
| Sène et al, 2008 (40) | Retrospective color | Consecutive patients with venous thrombosis (lower limbs, inferior vena cava, arm, pulmonary arteries). | 45.8 ± 18 | 44 (F/M 23/21) | 0 of 44 JAK2V617F | — |
| Bayraktar et al, 2008 (41) | Retrospective color | Patients with chronic noncirrhotic PVT (chronic PVT: partial or total occlusion of the portal system known for > 6 months or as the presence of portal vein cavernous transformation). Patients with acute or subacute PVT (within 3 months), cirrhosis, or liver malignancy were excluded. | 44.9* (24-73) | 25 (F/M 16/9) | 6 of 25 JAK2V617F; all were heterozygous | — |
| Colaizzo et al, 2008 (42) | Retrospective cohort | Consecutive patients with BCS. | 35 (14-66) | 32 (F/M 23/9) | 11 of 32 JAK2V617F | — |
| Bellucci et al, 2008 (43) | Retrospective cohort | Patients with CVT without overt CMPD | 35.4 ± 12.9 | 87 (F/M 68/19) | 1 of 87 JAK2V617F | — |
| Garcés-Eisele et al, 2008 (44) | Retrospective cohort | Patients with at least 1 episode of venous thrombosis confirmed by phlebography or Doppler in the previous 30 days. Patients with overt malignancy, pregnancy, puerperium, oral contraceptives, or other conditions associated with secondary thrombophilia were excluded. | 77 (F/M 51/26) | 0 of 77 JAK2V617F (0 of 4 SV; 0 of 73 DVT) | ||
| Karimi et al, 2008 (45) | Retrospective cohort | Thrombotic IBD patients (22 CD and 26 UC). | 37.5§ | 36 | 0 of 36 JAK2 V617 F (0 of 30 DVT; 0 of 2; 0 of 2 RVO; 0 of 2 SVT) | — |
| Hermans et al, 2008 (46) | Retrospective cohort | Patients with idiopathic RVO. | 51* (20-80) | 31 (F/M 17/14) | 0 of 31 JAK2V617F | — |
| Goulding et al, 2008 (47) | Retrospective cohort | Patients with HVT (10) and PVT (10). Patients with thrombophila, pregnancy, malignancy, sepsis, OC, preexisting cirrhosis, and patients with overt CMPD at the time of diagnosis of thrombosis were excluded. | 41 (24-76) | 19 | 14 of 19 JAK2V617F; all were heterozygous | |
| Xavier et al, 2008 (49) | Retrospective cohort | Consecutive CVT patients without overt CMPD. | 28 (15-65) | 44 (F/M 30/14) | 0 of 44 JAK2V617F | |
| Smalberg et al, 2006 (50) | Retrospective cohort | Patients with BCS. | 26.3 | 17 (F/M 10/7) | 7 of 17 JAK2V617F | — |
| Study, date (reference no.) . | Study type . | Selected population . | Median age, y (range) . | No. of patients . | JAK2 mutation (homozygous or heterozygous) . | Population controls . |
|---|---|---|---|---|---|---|
| Rossi et al, 2007 (19) | Retrospective cohort | Patients with idiopathic VTE (absence of: known conditions of inherited or acquired thrombophilia; common acquired risk factors for VTE, malignancy, surgery, pregnancy, estrogen consumption, liver failure, and nephritic syndrome; overt Ph− CMPD). | 48 (5-84) | 139 (F/M 81/58) | 3 of 139 JAK2V617F (lower limb DVT 0 of 61, CVT 0 of 13, RVO 0 of 6, SVT 3 of 6, PE 0 of 53) | — |
| McMahon et al, 2007 (21) | Case-control | Patients with catastrophic intraabdominal venous thrombosis. | 47.5 (18-64) | 24¶ (F/M 10/14) | 5 of 24 JAK2V617F | 30 patients with hereditary pancreatitis (mutation in the PRSS1 gene); 0 of 30 JAK2V617F |
| De Stefano et al, 2007 (22) | Retrospective cohort | Patients with idiopathic SVT or CVT, excluding overt cancer. | — | 139 (94 SVT + 45 CVT) | 37 of 139 JAK2V617F (32 of 94 SVT and 5 of 45 CVT**) (27 of 37 were sequenced | — |
| Regina et al, 2007 (23) | Case-control | Patients with HVT or EHPVO in whom liver cirrhosis, infection, and neoplastic disease were excluded. | 39 (22-76) | 44 (F/M 21/23) | 8 of 44 JAK2V617F | |
| Patients with spontaneous DVT of the lower limbs. | 39 (22-76) | 44 (F/M 21/23) | 0 of 44 JAK2V617F | |||
| Remacha et al, 2007 (25) | Case-control | Patients with thrombosis in common locations (consecutive patients with a first thrombotic event < 70 years, excluding those with neoplastic disease, liver failure, nephrotic syndrome). | 48 ± 14 | 295 (F/M 162/133) | 1 of 295 JAK2V617F | 65 patients with other hematologic non-CMPD; 0 of 65 JAK2V617F |
| Boissinot et al, 2006 (28) | Retrospective cohort | Patients with SVT. | 46.8* | 45 (F/M 21/24) | 14 of 45 JAK2V617F | — |
| Patel et al, 2006 (8) | Case-control | Patients with idiopathic BCS, excluding secondary etiology: adult polycystic liver and renal disease, hepatic vein stenosis, inferior vena cava stenosis, Bechet disease, carcinoid tumor, malignant infiltration, hepatocellular carcinoma, pregnancy, sickle cell disease, ulcerative colitis, PV, hydatid liver disease. | 35.5 ± 13.3* | 41 (F/M 26/15) | 24 of 41 JAK2V617F; during follow-up, 11 of 41 developed CMPD; 10 of 11 JAK2V617F | 27 patients with nonthrombotic liver disease (autoimmune, acetaminophen overdose, Gilbert syndrome, and Wilson disease); 0 of 27 JAK2V617F |
| Héron et al, 2007 (29) | Retrospective cohort | Patients with a first or recurrent central or brunch RVO, excluding traumatic, inflammatory, or tumor-related local cause of RVO; history of cancer, CMPD, systemic immunoinflammatory disease, and overt organ failure. | 46.1 ± 11.5* (25-58)† | 11 | 0 of 11 JAK2V617F | — |
| Ugo et al, 2007 (32) | Retrospective cohort | Patients with first unprovoked VTE without major acquired risk factor: surgery, plaster cast, pregnancy or delivery in the past 3 months, cancer. | 73 (18-96) | 394 (F/M 226/168) | 6 of 394 JAK2V617F | — |
| Primignani et al, 2006 (33) | Case-control | Consecutive patients with EHPVO or BCS, excluding neoplastic disease and liver cirrhosis. None of the patients had prior history of CMPD. | 38 (13-72) | 93 (20 BCS + 73 EHPVO) (F/M 56/37) | 34 of 93 JAK2V617F (26 heterozygous, 8 homozygous) | 20 healthy subjects; 0 of 20 JAK2V617F |
| Kiladjian et al, 2008 (34) | Retrospective cohort | Patients with EHPVO or BCS, excluding neoplastic disease and liver cirrhosis. | BCS: 36 (27-46) PVT: 42 (30-57) | 241 (104 BCS + 137 EHPVO) (F/M 129/112) | 94 of 241 JAK2V617F (47 of 104; 47 of 137) | — |
| Abel et al, 2008 (35) | Retrospective cohort | Patients with documented venous thrombosis (DVT, PE, SVT), excluding neoplastic disease, CMPD, or HIT within 1 year of thrombosis. | 52 | 1 of 52 JAK2V617F (0 of 45 DVT of PE 1 of 7 SVT) | — | |
| Colaizzo et al, 2007 (38) | Case-control | Patients with SVT, RVO, CVT, or DVT, excluding cirrhosis or hepatocellular carcinoma. | SVT: 47 (10-86) RVO: 51 (20-81) CVT: 40 (13-55) DVT: 49 (12-81) | 139 SVT (F/M 83/56); 93 RVO (F/M 42/51); 45 CVT (F/M 31/14); 110 DVT (F/M 51/59) | 27 of 139 JAK2V617F (0 of 93 RVO, 0 of 45 CVT, 0 of 110 DVT) | 286 healthy subjects (F/M 163/119; median age, 44 years; range, 21-73 years); 0 of 286 JAK2V617F |
| Pardanani et al, 2008 (39) | Retrospective cohort | Patients with non-SVT and non-CMPD. | 56 (17-93)‡ | 303 (114 DVT, 95 PE, 50 DVT and PE, 10 RVO, 7 CVT, 27 other thromboses) | 4 of 303 JAK2V617F (1 of 10 RVO, 1 of 7 CVT and PE, 1 of 50 DVT and PE, 1 of 95 PE) | — |
| Sène et al, 2008 (40) | Retrospective color | Consecutive patients with venous thrombosis (lower limbs, inferior vena cava, arm, pulmonary arteries). | 45.8 ± 18 | 44 (F/M 23/21) | 0 of 44 JAK2V617F | — |
| Bayraktar et al, 2008 (41) | Retrospective color | Patients with chronic noncirrhotic PVT (chronic PVT: partial or total occlusion of the portal system known for > 6 months or as the presence of portal vein cavernous transformation). Patients with acute or subacute PVT (within 3 months), cirrhosis, or liver malignancy were excluded. | 44.9* (24-73) | 25 (F/M 16/9) | 6 of 25 JAK2V617F; all were heterozygous | — |
| Colaizzo et al, 2008 (42) | Retrospective cohort | Consecutive patients with BCS. | 35 (14-66) | 32 (F/M 23/9) | 11 of 32 JAK2V617F | — |
| Bellucci et al, 2008 (43) | Retrospective cohort | Patients with CVT without overt CMPD | 35.4 ± 12.9 | 87 (F/M 68/19) | 1 of 87 JAK2V617F | — |
| Garcés-Eisele et al, 2008 (44) | Retrospective cohort | Patients with at least 1 episode of venous thrombosis confirmed by phlebography or Doppler in the previous 30 days. Patients with overt malignancy, pregnancy, puerperium, oral contraceptives, or other conditions associated with secondary thrombophilia were excluded. | 77 (F/M 51/26) | 0 of 77 JAK2V617F (0 of 4 SV; 0 of 73 DVT) | ||
| Karimi et al, 2008 (45) | Retrospective cohort | Thrombotic IBD patients (22 CD and 26 UC). | 37.5§ | 36 | 0 of 36 JAK2 V617 F (0 of 30 DVT; 0 of 2; 0 of 2 RVO; 0 of 2 SVT) | — |
| Hermans et al, 2008 (46) | Retrospective cohort | Patients with idiopathic RVO. | 51* (20-80) | 31 (F/M 17/14) | 0 of 31 JAK2V617F | — |
| Goulding et al, 2008 (47) | Retrospective cohort | Patients with HVT (10) and PVT (10). Patients with thrombophila, pregnancy, malignancy, sepsis, OC, preexisting cirrhosis, and patients with overt CMPD at the time of diagnosis of thrombosis were excluded. | 41 (24-76) | 19 | 14 of 19 JAK2V617F; all were heterozygous | |
| Xavier et al, 2008 (49) | Retrospective cohort | Consecutive CVT patients without overt CMPD. | 28 (15-65) | 44 (F/M 30/14) | 0 of 44 JAK2V617F | |
| Smalberg et al, 2006 (50) | Retrospective cohort | Patients with BCS. | 26.3 | 17 (F/M 10/7) | 7 of 17 JAK2V617F | — |
SVT indicates splanchnic vein thrombosis; BCS, Budd-Chiari syndrome; EHPVO, extrahepatic portal vein obstruction; CMPD, chronic myeloproliferative disease; PV, polycythemia vera; CVT, cerebral venous thrombosis; HVT, hepatic venous thrombosis; DVT, deep vein thrombosis; MVT, mesenteric vein thrombosis; VTE, venous thromboembolism; PMVT, portal and mesenteric venous thrombosis; RVO, retinal vein occlusion; HIT, heparin-induced thrombocytopenia; US, ultrasonography; CT, computed tomography; MR, magnetic resonance; PE, pulmonary embolism; MF, idiopathic myelofibrosis; CML, chronic myeloid leukemia; PVT, portal vein thrombosis; ET, essential thrombocythemia; IBD, inflammatory bowel disease; CD, Crohn disease; UC, ulcerative colitis; F, female; M, male; and —, not applicable.
Mean or mean ± SD.
Age referred to 12 patients.
Referred to 439 patients.
Data on patients with CVT were supplemented with data of a more recent publication; 6 of 52 patients with CVT were positive for JAK2 V617F mutation (xx).