Splanchnic venous thrombosis driven by a constitutively activated JAK2 V617F philadelphia-negative myeloproliferative neoplasm: A case report

Musa Waiswa; Emmanuel Seremba; Ponsiana Ocama; Henry Ddungu; Keneth Opio; Clement Okello; Timothy O’shea; Madeleine Verhovsek; Richard Mutyabule

doi:10.4314/ahs.v14i4.39

Splanchnic venous thrombosis driven by a constitutively activated JAK2 V617F philadelphia-negative myeloproliferative neoplasm: A case report

Musa Waiswa, Emmanuel Seremba, Ponsiana Ocama, Henry Ddungu, Keneth Opio, Clement Okello, Timothy O’shea, Madeleine Verhovsek, Richard Mutyabule

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

Introduction: Splanchnic venous thrombosis (SVT) has varied etiology with Philadelphia- negative myeloproliferative neoplasms (MPNs) being the most frequent underlying prothrombotic factor. Hematological indices often remain within normal range because of portal hypertension and its sequelae, causing diagnostic challenges. The high frequency of JAK2 mutation among patients with SVT reinforces the diagnostic utility of JAK2V617F testing.

Case report: We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT- portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm.

Conclusion: A high index of suspicion for an underlying prothrombotic factor is critical for patients presenting with thrombosis in unusual sites. This is useful in prognostic stratification and patient outcomes. JAK2 mutation screening is now part of the standard diagnostic workup in SVT.

Original language	English
Pages (from-to)	1069-1073
Number of pages	5
Journal	African Health Sciences
Volume	14
Issue number	4
DOIs	https://doi.org/10.4314/ahs.v14i4.39
Publication status	Published - 2014
Externally published	Yes

Keywords

Myeloproliferative neoplasm
Venous thrombosis

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title = "Splanchnic venous thrombosis driven by a constitutively activated JAK2 V617F philadelphia-negative myeloproliferative neoplasm: A case report",

abstract = "Introduction: Splanchnic venous thrombosis (SVT) has varied etiology with Philadelphia- negative myeloproliferative neoplasms (MPNs) being the most frequent underlying prothrombotic factor. Hematological indices often remain within normal range because of portal hypertension and its sequelae, causing diagnostic challenges. The high frequency of JAK2 mutation among patients with SVT reinforces the diagnostic utility of JAK2V617F testing.Case report: We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT- portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm.Conclusion: A high index of suspicion for an underlying prothrombotic factor is critical for patients presenting with thrombosis in unusual sites. This is useful in prognostic stratification and patient outcomes. JAK2 mutation screening is now part of the standard diagnostic workup in SVT.",

keywords = "Myeloproliferative neoplasm, Venous thrombosis",

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doi = "10.4314/ahs.v14i4.39",

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T1 - Splanchnic venous thrombosis driven by a constitutively activated JAK2 V617F philadelphia-negative myeloproliferative neoplasm

T2 - A case report

AU - Waiswa, Musa

AU - Seremba, Emmanuel

AU - Ocama, Ponsiana

AU - Ddungu, Henry

AU - Opio, Keneth

AU - Okello, Clement

AU - O’shea, Timothy

AU - Verhovsek, Madeleine

AU - Mutyabule, Richard

PY - 2014

Y1 - 2014

N2 - Introduction: Splanchnic venous thrombosis (SVT) has varied etiology with Philadelphia- negative myeloproliferative neoplasms (MPNs) being the most frequent underlying prothrombotic factor. Hematological indices often remain within normal range because of portal hypertension and its sequelae, causing diagnostic challenges. The high frequency of JAK2 mutation among patients with SVT reinforces the diagnostic utility of JAK2V617F testing.Case report: We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT- portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm.Conclusion: A high index of suspicion for an underlying prothrombotic factor is critical for patients presenting with thrombosis in unusual sites. This is useful in prognostic stratification and patient outcomes. JAK2 mutation screening is now part of the standard diagnostic workup in SVT.

AB - Introduction: Splanchnic venous thrombosis (SVT) has varied etiology with Philadelphia- negative myeloproliferative neoplasms (MPNs) being the most frequent underlying prothrombotic factor. Hematological indices often remain within normal range because of portal hypertension and its sequelae, causing diagnostic challenges. The high frequency of JAK2 mutation among patients with SVT reinforces the diagnostic utility of JAK2V617F testing.Case report: We report a case of a 62-year-old black man with progressive abdominal swelling and features of decompensated chronic liver disease found to have SVT- portal vein thrombosis and how JAK2 V617F was useful in unmasking an underlying myeloproliferative neoplasm.Conclusion: A high index of suspicion for an underlying prothrombotic factor is critical for patients presenting with thrombosis in unusual sites. This is useful in prognostic stratification and patient outcomes. JAK2 mutation screening is now part of the standard diagnostic workup in SVT.

KW - Myeloproliferative neoplasm

KW - Venous thrombosis

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JF - African Health Sciences

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ER -

Splanchnic venous thrombosis driven by a constitutively activated JAK2 V617F philadelphia-negative myeloproliferative neoplasm: A case report

Abstract

Keywords

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