In the pathogenesis of thrombotic events, especially those of unknown origin, the role of the JAK2-V617F mutation have been underestimated so far. commonly, JAK2 mutations are associated with chronic myeloproliferative neoplasms (MPNs). this paper reports the clinical events occurred to a woman positive for JAK2-V617F mutation and no MPNs, who experienced three episodes of thrombosis, without other risk factor. only a few studies have so far described cases of thrombophilia exclusively related to a JAK2 in the absence of MPN, but none of them presented a severe clinical history like that of the patient described here. it is advisable in clinical practice, to search for the JAK2 mutation in all cases of unexplained venous thrombosis. A 46-year-old Caucasian woman was first observed at our clinic in January 2018, after an episode of partial thrombosis of the transverse sigmoid of the venous central axis still under oral treatment with warfarin. After the thrombotic episode, the patient ensured self-sufficiency, but she was unable to drive, had memory disorders and sometimes slight space-time disorientation. The patient reported other episodes of thrombosis occurred in 2000 and in August 2013. the major concern of patients who have undergone numerous thrombotic events is a further recurrence or a new episode. We searched for all thrombophilic mutations and for and for all other indicative parameters of thrombotic predisposition. only one heterozygosity was found for the c677t mutation for MthFR, with homocysteine always in the normal values. Mutation of the JAK2-V617 gene was searched and found present. the anticoagulant therapy was changed by introducing apixaban 5 mg, one tablet twice a day. the general situation gradually improved and after 2 months of treatment, the patient completely recovered their autonomy, was well oriented and started driving again. this patient achieved a stable excellent clinical condition, free of thrombotic events for a two-years follow-up. it is advisable in clinical practice, to search for the JAK2 mutation in all cases of unexplained venous thrombosis, because this mutation can involve a thrombotic risk regardless of the evidence of a concomitant myeloproliferative disease.
Recurrent thrombosis: A case report of young patient JAK2+ without myeloproliferative disease and other risk factors. The role of sport activity
Sagnelli, C;Fiorelli, A;
2020
Abstract
In the pathogenesis of thrombotic events, especially those of unknown origin, the role of the JAK2-V617F mutation have been underestimated so far. commonly, JAK2 mutations are associated with chronic myeloproliferative neoplasms (MPNs). this paper reports the clinical events occurred to a woman positive for JAK2-V617F mutation and no MPNs, who experienced three episodes of thrombosis, without other risk factor. only a few studies have so far described cases of thrombophilia exclusively related to a JAK2 in the absence of MPN, but none of them presented a severe clinical history like that of the patient described here. it is advisable in clinical practice, to search for the JAK2 mutation in all cases of unexplained venous thrombosis. A 46-year-old Caucasian woman was first observed at our clinic in January 2018, after an episode of partial thrombosis of the transverse sigmoid of the venous central axis still under oral treatment with warfarin. After the thrombotic episode, the patient ensured self-sufficiency, but she was unable to drive, had memory disorders and sometimes slight space-time disorientation. The patient reported other episodes of thrombosis occurred in 2000 and in August 2013. the major concern of patients who have undergone numerous thrombotic events is a further recurrence or a new episode. We searched for all thrombophilic mutations and for and for all other indicative parameters of thrombotic predisposition. only one heterozygosity was found for the c677t mutation for MthFR, with homocysteine always in the normal values. Mutation of the JAK2-V617 gene was searched and found present. the anticoagulant therapy was changed by introducing apixaban 5 mg, one tablet twice a day. the general situation gradually improved and after 2 months of treatment, the patient completely recovered their autonomy, was well oriented and started driving again. this patient achieved a stable excellent clinical condition, free of thrombotic events for a two-years follow-up. it is advisable in clinical practice, to search for the JAK2 mutation in all cases of unexplained venous thrombosis, because this mutation can involve a thrombotic risk regardless of the evidence of a concomitant myeloproliferative disease.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
