JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bone marrow biopsy for the diagnosis of myeloproliferative disease.
BACKGROUND
Splanchnic vein thrombosis (SVT) is a severe complication of essential thrombocythemia (ET). No clear explanation has been given for the occurrence of thrombosis in this unusual site in patients with ET, but the existence of a specific association between unexplained SVT and the JAK2 mutation has been reported.


RESULTS
The present study describes SVT (portal and splenic vein thrombosis) in a young woman as the first presenting symptom of latent ET. Extensive screening for thrombophilia was negative. Our patient in fact did not fulfill the WHO diagnostic criteria for myeloproliferative disease (MPD), while she had splenomegaly and developed features suggestive of latent ET during follow-up.


CONCLUSIONS
In these patients with SVT, the detection of JAK2(V617F) mutation is diagnostic for masked MPD as could be documented by bone marrow histopathology. The presence of JAK2(V617F) mutation should be considered per se a prothrombotic state for cerebral, coronary and peripheral microvascular disturbances and for SVT but not for deep vein thrombosis. Anticoagulation is the treatment of choice for all SVT and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2(V617F) mutation.
Allegra
Alessandro
A
Division of Haematology, University of Messina, Via Colapesce 20, Messina, Italy.
Alonci
Andrea
A
Penna
Giuseppa
G
D'Angelo
Arianna
A
Rizzotti
Patricia
P
Granata
Angela
A
Musolino
Caterina
C
D015746:Abdominal Pain / Q000209:etiology; D000074:Acenocoumarol / Q000627:therapeutic use; D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology*; D001856:Bone Marrow Examination; D004827:Epilepsy / Q000150:complications; D005188:False Negative Reactions; D005260:Female; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics* / Q000502:physiology; D011085:Polycystic Ovary Syndrome / Q000150:complications; D011169:Portal Vein; D013162:Splenic Vein; D013163:Splenomegaly / Q000209:etiology; D013920:Thrombocythemia, Essential / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D019851:Thrombophilia / Q000188:drug therapy / Q000209:etiology*; D020246:Venous Thrombosis / Q000188:drug therapy / Q000209:etiology*
D000925:Anticoagulants; D006493:Heparin; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D000074:Acenocoumarol; D006918:Hydroxyurea