Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation

Snjezana Janjetovic; Lennart Beckmann; Katharina Holstein; Christina Rolling; Benjamin Thiele; Philippe Schafhausen; Gerhard Schön; Carsten Bokemeyer; Florian Langer; Minna Voigtlaender

doi:10.1016/j.thromres.2020.11.027

Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation

Standard

Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation. / Janjetovic, Snjezana ; Beckmann, Lennart ; Holstein, Katharina ; Rolling, Christina; Thiele, Benjamin; Schafhausen, Philippe ; Schön, Gerhard ; Bokemeyer, Carsten ; Langer, Florian ; Voigtlaender, Minna.

In: THROMB RES, Vol. 198, 02.2021, p. 55-61.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Janjetovic, S , Beckmann, L , Holstein, K , Rolling, C, Thiele, B, Schafhausen, P , Schön, G , Bokemeyer, C , Langer, F & Voigtlaender, M 2021, 'Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation', THROMB RES, vol. 198, pp. 55-61. https://doi.org/10.1016/j.thromres.2020.11.027

APA

Janjetovic, S., Beckmann, L., Holstein, K., Rolling, C., Thiele, B., Schafhausen, P., Schön, G., Bokemeyer, C., Langer, F., & Voigtlaender, M. (2021). Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation. THROMB RES, 198, 55-61. https://doi.org/10.1016/j.thromres.2020.11.027

Vancouver

Janjetovic S , Beckmann L , Holstein K , Rolling C, Thiele B, Schafhausen P et al. Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation. THROMB RES. 2021 Feb;198:55-61. https://doi.org/10.1016/j.thromres.2020.11.027

Bibtex

@article{d835ee7551394216881d19d52dca5d6e,

title = "Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation",

abstract = "INTRODUCTION: Patients with Philadelphia-negative myeloproliferative neoplasms (MPNs), particularly those carrying the JAK2V617F mutation, are at increased risk of thrombosis. While an association of MPNs with autoimmune disorders has been established, the prevalence of inherited or acquired thrombophilias in JAK2V617F-positive patients remains obscure. We therefore investigated the coincidence of the JAK2V617F mutation with additional thrombogenic risk factors.METHODS: In a retrospective study, we analyzed all patients referred for thrombophilia work-up between 01/2011 and 08/2019, in whom additional JAK2V617F mutation analysis was performed because of thromboembolic events that were recurrent, atypically located and/or associated with abnormal blood counts.RESULTS: Of 472 tested patients, 49 (10.4%) were JAK2V617F-positive. While the frequency of inherited thrombophilias (factor V Leiden and prothrombin G20210A mutation, deficiency of antithrombin, protein C, protein S) was not different between the two groups, the prevalence of definite antiphospholipid syndrome (APS), mostly associated with a moderate- or high-risk antibody profile, was significantly higher in patients with (22.4%) than in those without (8.4%) JAK2V617F mutation (p < 0.01). All evaluable JAK2V617F-positive patients with APS were subsequently diagnosed with MPN. In patients with JAK2V617F mutation, presence of concomitant APS was associated with a significantly younger age (49 ± 14 vs. 60 ± 15 years) at the time of thrombophilia work-up (p < 0.05).CONCLUSION: We found a significant association between JAK2V617F-positive MPN and definite APS. The presence of concomitant APS in patients carrying the JAK2V617F mutation may lead to earlier manifestation of thromboembolic events and may warrant more aggressive antithrombotic treatment strategies to prevent recurrence.",

author = "Snjezana Janjetovic and Lennart Beckmann and Katharina Holstein and Christina Rolling and Benjamin Thiele and Philippe Schafhausen and Gerhard Sch{\"o}n and Carsten Bokemeyer and Florian Langer and Minna Voigtlaender",

year = "2021",

month = feb,

doi = "10.1016/j.thromres.2020.11.027",

language = "English",

volume = "198",

pages = "55--61",

journal = "THROMB RES",

issn = "0049-3848",

publisher = "Elsevier Limited",

}

RIS

TY - JOUR

T1 - Prevalence of definite antiphospholipid syndrome in carriers of the JAK2V617F mutation

AU - Janjetovic, Snjezana

AU - Beckmann, Lennart

AU - Holstein, Katharina

AU - Rolling, Christina

AU - Thiele, Benjamin

AU - Schafhausen, Philippe

AU - Schön, Gerhard

AU - Bokemeyer, Carsten

AU - Langer, Florian

AU - Voigtlaender, Minna

PY - 2021/2

Y1 - 2021/2

N2 - INTRODUCTION: Patients with Philadelphia-negative myeloproliferative neoplasms (MPNs), particularly those carrying the JAK2V617F mutation, are at increased risk of thrombosis. While an association of MPNs with autoimmune disorders has been established, the prevalence of inherited or acquired thrombophilias in JAK2V617F-positive patients remains obscure. We therefore investigated the coincidence of the JAK2V617F mutation with additional thrombogenic risk factors.METHODS: In a retrospective study, we analyzed all patients referred for thrombophilia work-up between 01/2011 and 08/2019, in whom additional JAK2V617F mutation analysis was performed because of thromboembolic events that were recurrent, atypically located and/or associated with abnormal blood counts.RESULTS: Of 472 tested patients, 49 (10.4%) were JAK2V617F-positive. While the frequency of inherited thrombophilias (factor V Leiden and prothrombin G20210A mutation, deficiency of antithrombin, protein C, protein S) was not different between the two groups, the prevalence of definite antiphospholipid syndrome (APS), mostly associated with a moderate- or high-risk antibody profile, was significantly higher in patients with (22.4%) than in those without (8.4%) JAK2V617F mutation (p < 0.01). All evaluable JAK2V617F-positive patients with APS were subsequently diagnosed with MPN. In patients with JAK2V617F mutation, presence of concomitant APS was associated with a significantly younger age (49 ± 14 vs. 60 ± 15 years) at the time of thrombophilia work-up (p < 0.05).CONCLUSION: We found a significant association between JAK2V617F-positive MPN and definite APS. The presence of concomitant APS in patients carrying the JAK2V617F mutation may lead to earlier manifestation of thromboembolic events and may warrant more aggressive antithrombotic treatment strategies to prevent recurrence.

AB - INTRODUCTION: Patients with Philadelphia-negative myeloproliferative neoplasms (MPNs), particularly those carrying the JAK2V617F mutation, are at increased risk of thrombosis. While an association of MPNs with autoimmune disorders has been established, the prevalence of inherited or acquired thrombophilias in JAK2V617F-positive patients remains obscure. We therefore investigated the coincidence of the JAK2V617F mutation with additional thrombogenic risk factors.METHODS: In a retrospective study, we analyzed all patients referred for thrombophilia work-up between 01/2011 and 08/2019, in whom additional JAK2V617F mutation analysis was performed because of thromboembolic events that were recurrent, atypically located and/or associated with abnormal blood counts.RESULTS: Of 472 tested patients, 49 (10.4%) were JAK2V617F-positive. While the frequency of inherited thrombophilias (factor V Leiden and prothrombin G20210A mutation, deficiency of antithrombin, protein C, protein S) was not different between the two groups, the prevalence of definite antiphospholipid syndrome (APS), mostly associated with a moderate- or high-risk antibody profile, was significantly higher in patients with (22.4%) than in those without (8.4%) JAK2V617F mutation (p < 0.01). All evaluable JAK2V617F-positive patients with APS were subsequently diagnosed with MPN. In patients with JAK2V617F mutation, presence of concomitant APS was associated with a significantly younger age (49 ± 14 vs. 60 ± 15 years) at the time of thrombophilia work-up (p < 0.05).CONCLUSION: We found a significant association between JAK2V617F-positive MPN and definite APS. The presence of concomitant APS in patients carrying the JAK2V617F mutation may lead to earlier manifestation of thromboembolic events and may warrant more aggressive antithrombotic treatment strategies to prevent recurrence.

U2 - 10.1016/j.thromres.2020.11.027

DO - 10.1016/j.thromres.2020.11.027

M3 - SCORING: Journal article

C2 - 33290883

VL - 198

SP - 55

EP - 61

JO - THROMB RES

JF - THROMB RES

SN - 0049-3848

ER -