Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 1.023
Filter
2.
BMC Womens Health ; 24(1): 211, 2024 Apr 02.
Article in English | MEDLINE | ID: mdl-38566064

ABSTRACT

Due to the thrombohemorrhagic potential of essential thrombocythemia, pregnancy complicated by essential thrombocythemia should be recognized as a risk factor for obstetric complications. Here, we report the case of a patient with essential thrombocythemia with two significantly different pregnancy outcomes. Her first pregnancy (at 30 years of age) ended with an uneventful term delivery. However, the patient progressed to cavernous transformation of the portal vein in the period between her two pregnancies and subsequently experienced deep venous thrombosis during the first trimester of her second pregnancy (at 36 years of age). The patient's platelet count during pregnancy was within the normal range, so she ignored previous instances of essential thrombocytosis (at 26 years of age). The patient's main symptom was unrelieved pain in her leg. After that, she was successfully treated with anticoagulant throughout her entire pregnancy, resulting in a term vaginal delivery. This case highlights the importance of assessing pregnant patients with essential thrombocythemia according to their risk stratification. Specifically, risk assessments for potential pregnancy complications should take into account advanced maternal age and a previous history of thrombosis. Patients with essential thrombocythemia should be encouraged to participate in preconception counseling for risk assessment and to initiate prophylactic anticoagulation as soon as possible.


Subject(s)
Pregnancy Complications , Thrombocythemia, Essential , Venous Thromboembolism , Female , Humans , Pregnancy , Portal Vein/diagnostic imaging , Pregnancy Outcome , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/drug therapy , Thrombocythemia, Essential/diagnosis , Venous Thromboembolism/complications , Adult
3.
Blood Coagul Fibrinolysis ; 35(4): 214-216, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38477831

ABSTRACT

Essential thrombocythemia (ET) is a rare clonal stem cell disorder that affects the production of platelets in the bone marrow. This condition causes an overproduction of platelets, which can lead to blood clots and other complications. Potassium, on the other hand, is an essential mineral that plays a vital role in various bodily functions, including nerve impulses and muscle contractions. Here, in this case report, we investigated a case of pseudo-hyperkalemia caused by essential thrombocythemia in a 77-year-old woman with very high platelet counts. Moreover, this case report, which has no similar examples in the literature review, is important for clinicians.


Subject(s)
Thrombocythemia, Essential , Humans , Thrombocythemia, Essential/complications , Female , Aged , Hyperkalemia/etiology , Hyperkalemia/complications , Platelet Count
5.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 32(1): 197-201, 2024 Feb.
Article in Chinese | MEDLINE | ID: mdl-38387921

ABSTRACT

OBJECTIVE: To investigate the relationship between mutated genes and clinical features in patients with essential thrombocythemia (ET). METHODS: The clinical data of 69 patients with ET from October 2018 to March 2022 were retrospectively analyzed. According to driver mutation type, patients were divided into JAK2 group, CALR group and triple-negative group. The sex, age, cardiovascular risk factors, thrombosis, splenomegaly, routine blood test and coagulation status of patients in three groups were analyzed. RESULTS: Among 69 ET patients, 46 cases were associated with JAK2 mutation, 14 cases with CALR mutation, 8 cases with triple-negative mutation, and one with MPL gene mutation. There were no significant differences in age and sex among the three groups (P >0.05). The highest thrombotic rate was 26.09% (12/46) in JAK2 group, then 12.5% (1/8) in triple-negative group, while no thrombotic events occurred in CALR group. The incidence of splenomegaly was the highest in JAK2 group (34.78%), while no splenomegaly occurred in triple-negative group. The white blood cell (WBC) count in JAK2 group was (9.00±4.86)×109/L, which was significantly higher than (6.03±2.32)×109/L in CALR group (P <0.05). The hemoglobin (Hb) and hematocrit (HCT) in JAK2 group were (148.42±18.79) g/L and (0.44±0.06)%, respectively, which were both significantly higher than (131.00±15.17) g/L and (0.39±0.05)% in triple-negative group (P <0.05). The platelet (PLT) in JAK2 group was (584.17±175.77)×109/L, which was significantly lower than (703.07±225.60)×109/L in CALR group (P <0.05). The fibrinogen (Fg) in JAK2 and triple-negative group were (2.64±0.69) g/L and (3.05±0.77) g/L, respectively, which were both significantly higher than (2.24±0.47) g/L in CALR group (P <0.05, P <0.01). The activated partial thromboplastin time (APTT) in triple-negative group was (28.61±1.99) s, which was significantly decreased compared with (31.45±3.35) s in CALR group (P <0.05). CONCLUSIONS: There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations. Among ET patients, JAK2 mutation is most common. Compared with CALR group, the thrombotic rate, WBC and Fg significantly increase in JAK2 group, while PLT decrease. Compared with triple-negative group, the incidence of splenomegaly and HCT significantly increase. Compared with CALR group, Fg significantly increases but APTT decreases in triple-negative group.


Subject(s)
Thrombocythemia, Essential , Thrombosis , Humans , Calreticulin/genetics , Janus Kinase 2/genetics , Mutation , Retrospective Studies , Splenomegaly/complications , Thrombocythemia, Essential/genetics , Thrombocythemia, Essential/complications
6.
Int J Mol Sci ; 25(3)2024 Jan 24.
Article in English | MEDLINE | ID: mdl-38338695

ABSTRACT

Polycythemia vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms (MPN) characterized by clonal erythrocytosis and thrombocytosis, respectively. The main goal of therapy in PV and ET is to prevent thrombohemorrhagic complications. Despite a debated notion that red blood cells (RBCs) play a passive and minor role in thrombosis, there has been increasing evidence over the past decades that RBCs may play a biological and clinical role in PV and ET pathophysiology. This review summarizes the main mechanisms that suggest the involvement of PV and ET RBCs in thrombosis, including quantitative and qualitative RBC abnormalities reported in these pathologies. Among these abnormalities, we discuss increased RBC counts and hematocrit, that modulate blood rheology by increasing viscosity, as well as qualitative changes, such as deformability, aggregation, expression of adhesion proteins and phosphatidylserine and release of extracellular microvesicles. While the direct relationship between a high red cell count and thrombosis is well-known, the intrinsic defects of RBCs from PV and ET patients are new contributors that need to be investigated in depth in order to elucidate their role and pave the way for new therapeutical strategies.


Subject(s)
Polycythemia Vera , Thrombocythemia, Essential , Thrombocytosis , Thrombosis , Humans , Thrombocythemia, Essential/complications , Thrombosis/complications , Thrombocytosis/pathology , Erythrocytes/pathology
7.
Br J Haematol ; 204(5): 1740-1751, 2024 May.
Article in English | MEDLINE | ID: mdl-38351734

ABSTRACT

Thromboembolic events and bleeding are known complications in essential thrombocythaemia (ET) and polycythaemia vera (PV). Using multiple Swedish health care registers, we assessed the rate of arterial and venous events, major bleeding, all-cause stroke and all-cause mortality in ET and PV compared to matched controls. For each patient with ET (n = 3141) and PV (n = 2604), five matched controls were randomly selected. In total, 327 and 405 arterial or venous events were seen in the group of ET and PV patients respectively. Compared to corresponding controls, the rate of venous thromboembolism, major bleeding and all-cause mortality per 100 treatment years was significantly increased among both ET (0.63, 0.79 and 3.70) and PV patients (0.94, 1.20 and 4.80). The PV patients also displayed a significantly higher rate of arterial events and all-cause stroke compared to controls. When dividing the cohort into age groups, we found a significantly higher rate of arterial and venous events in all age groups of PV patients, and the rate of all-cause mortality was significantly higher in both ET and PV patients in all ages above the age of 50. This study confirms that PV and ET are diseases truly marked by thromboembolic complications and bleeding.


Subject(s)
Hemorrhage , Polycythemia Vera , Thrombocythemia, Essential , Thromboembolism , Humans , Thrombocythemia, Essential/mortality , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/epidemiology , Middle Aged , Aged , Male , Female , Hemorrhage/mortality , Hemorrhage/etiology , Hemorrhage/epidemiology , Polycythemia Vera/mortality , Polycythemia Vera/complications , Sweden/epidemiology , Adult , Thromboembolism/mortality , Thromboembolism/epidemiology , Thromboembolism/etiology , Aged, 80 and over , Case-Control Studies , Registries , Young Adult , Adolescent , Stroke/mortality , Stroke/epidemiology , Stroke/etiology
8.
Ann Hematol ; 103(3): 737-747, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38263537

ABSTRACT

To elucidate the role of splanchnic vein thrombosis (SVT) and genomic characteristics in prognosis and survival, we compared patients with polycythemia vera (PV) or essential thrombocythemia (ET) presenting SVT at diagnosis (n = 69, median age 43 years) or during follow-up (n = 21, median age 46 years) to a sex- and age-matched control group of PV/ET without SVT (n = 165, median age 48 years). The majority of patients presenting with SVT at diagnosis were classified as myeloproliferative neoplasm with heterozygous JAK2 mutation (87% of cases vs. 69% in PV/ET control group, p < 0.05), characterized by low JAK2 allele burden and no high-risk mutations. Despite this lower molecular complexity, patients presenting with SVT showed a higher risk of death (HR 3.0, 95% CI 1.5-6.0, p = 0.003) and lower event-free survival (HR 3.0, 95% CI 1.9-4.8, p < 0.001) than age- and sex-matched PV/ET controls. In patients presenting with SVT, molecular high-risk was associated with increased risk of venous re-thrombosis (HR 5.8, 95% CI 1.4-24.0, p = 0.01). Patients developing SVT during follow-up were more frequently allocated in molecular high-risk than those with SVT at diagnosis (52% versus 13%, p < 0.05). In the whole cohort of patients, molecular classification identified PV/ET patients at higher risk of disease progression whereas DNMT3A/TET2/ASXL1 mutations were associated with higher risk of arterial thrombosis. In conclusion, clinical and molecular characteristics are different in PV/ET patients with SVT, depending on whether it occurs at diagnosis or at follow-up. Molecular characterization by NGS is useful for assessing the risk of thrombosis and disease progression in young patients with PV/ET.


Subject(s)
Polycythemia Vera , Thrombocythemia, Essential , Thrombosis , Venous Thrombosis , Humans , Adult , Middle Aged , Polycythemia Vera/complications , Polycythemia Vera/genetics , Polycythemia Vera/diagnosis , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/genetics , Thrombocythemia, Essential/diagnosis , Venous Thrombosis/genetics , Thrombosis/etiology , Thrombosis/genetics , Genomics , Disease Progression , Janus Kinase 2/genetics
10.
Blood ; 143(13): 1310-1314, 2024 Mar 28.
Article in English | MEDLINE | ID: mdl-38252902

ABSTRACT

ABSTRACT: Among 281 patients with essential thrombocythemia and calreticulin (CALR) mutation, we found a variant allele frequency of ≥60% to be associated with significantly shortened myelofibrosis-free survival, mostly apparent with CALR type-1 and CALR type-indeterminate mutations.


Subject(s)
Primary Myelofibrosis , Thrombocythemia, Essential , Humans , Thrombocythemia, Essential/complications , Calreticulin/genetics , Primary Myelofibrosis/complications , Mutation , Janus Kinase 2/genetics
11.
Blood Cancer J ; 14(1): 10, 2024 01 18.
Article in English | MEDLINE | ID: mdl-38238287

ABSTRACT

We describe 1000 patients with essential thrombocythemia seen at the Center Research and Innovation of Myeloproliferative Neoplasms (CRIMM), Florence, Italy, between 1980 and 2023: median age 59 years (18-95), females 65%, JAK2/CALR/MPL-mutated 66%/19%/4%, triple-negative (TN) 11%. Extreme thrombocytosis (ExT, platelets ≥1000 × 109/L) in 16%, leukocytosis (leukocytes >11 × 109/L) in 16%, and at least one cardiovascular risk factor in 52% of cases. JAK2-mutated patients were older (median 62 years) and CALR-mutated and TN (53 years for both) younger (p < 0.001). Female gender clustered with TN (76%) and JAK2 (67%) vs CALR (46%) mutations (p < 0.001). ExT clustered with CALR (type-2 more than type-1), TN and MPL, and leukocytosis with JAK2 mutation (p < 0.001). In multivariable analysis, risk factors for arterial thrombosis-free survival were age ≥60 years (HR 2.0; p < 0.001) and JAK2 mutation (HR 1.3; p = 0.02) with borderline significance for male gender (p = 0.08) and cardiovascular risk factors (p = 0.08); for venous thrombosis-free survival, JAK2 mutation (HR 1.9; p = 0.03) with borderline significance for venous thrombosis history (p = 0.07); for overall survival, older age (p < 0.001), male gender (HR 1.9; p < 0.001), absolute neutrophil count (ANC) ≥ 8 × 109/L (HR 1.8; p = 0.01), absolute lymphocyte count (ALC) < 1.7 × 109/L (HR 1.2; p = 0.03); for myelofibrosis-free survival, CALR mutation (HR 2.7; p < 0.001, particularly for CALR type 1/1-like, HR 3.3) and MPL mutation (HR 3.9; p = 0.001); for leukemia-free survival, older age (p = 0.03). Cytoreductive therapy appeared to mitigate both venous (HR 0.3; p = 0.01) and arterial thrombosis (HR 4; p = 0.04); there was a trend for aspirin in preventing arterial thrombosis recurrence. The current study provides real-world observations in essential thrombocythemia, representing a valid source document for interpreting current literature and planning future studies.


Subject(s)
Myeloproliferative Disorders , Thrombocythemia, Essential , Thrombocytosis , Thrombosis , Humans , Male , Female , Middle Aged , Thrombocythemia, Essential/complications , Leukocytosis/complications , Myeloproliferative Disorders/complications , Thrombocytosis/complications , Thrombosis/etiology , Thrombosis/genetics , Mutation , Janus Kinase 2/genetics , Calreticulin/genetics
12.
Blood Cancer J ; 14(1): 11, 2024 01 18.
Article in English | MEDLINE | ID: mdl-38238303

ABSTRACT

We describe 1000 patients with essential thrombocythemia seen at the Mayo Clinic between 1967 and 2023: median age 58 years (18-90), females 63%, JAK2/CALR/MPL-mutated 62%/27%/3%, triple-negative (TN) 8%, extreme thrombocytosis (ExT; platelets ≥1000 × 109/L) 26%, leukocytosis (leukocyte count >11 × 109/L) 20%, and abnormal karyotype 6%. JAK2-mutated patients were older (median 71 years), and CALR mutated (52 years), and TN (50 years) younger (p < 0.01). Female gender clustered with TN (73%) and JAK2 (69%) vs. CALR/MPL (49%/47%) mutations (p < 0.01). ExT clustered with CALR (type-2 more than type-1) and TN and leukocytosis with JAK2 mutation (p < 0.01). In multivariable analysis, risk factors for overall survival were older age (p < 0.01), male gender (HR 1.8), absolute neutrophil count (ANC) ≥ 8 × 109/L (HR 1.6), absolute lymphocyte count (ALC) < 1.7 × 109/L (HR 1.5), hypertension (HR 1.7), and arterial thrombosis history (HR 1.7); for leukemia-free survival, ExT (HR 2.3) and abnormal karyotype (HR 3.1); for myelofibrosis-free survival, ANC ≥ 8 × 109/L (HR 2.3) and MPL mutation (HR 3.9); for arterial thrombosis-free survival, age ≥60 years (HR 1.9), male gender (HR 1.6), arterial thrombosis history (HR 1.7), hypertension (HR 1.7), and JAK2 mutation (HR 1.8); for venous thrombosis-free survival, male gender (HR 1.8) and venous thrombosis history (HR 3.0). Associations between ExT and leukemic transformation and between ANC and fibrotic progression were limited to JAK2-mutated cases. Aspirin therapy appeared to mitigate both arterial (HR 0.4) and venous (HR 0.4) thrombosis risk. HR-based risk models delineated patients with median survivals ranging from 10 years to not reached and 20-year leukemia/myelofibrosis incidences from 3%/21% to 12.8%/49%. The current study provides both novel and confirmatory observations of essential thrombocythemia.


Subject(s)
Hypertension , Primary Myelofibrosis , Thrombocythemia, Essential , Thrombosis , Humans , Male , Female , Middle Aged , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/genetics , Thrombocythemia, Essential/complications , Leukocytosis/complications , Thrombosis/etiology , Thrombosis/genetics , Mutation , Primary Myelofibrosis/genetics , Abnormal Karyotype , Hypertension/complications , Janus Kinase 2/genetics , Calreticulin/genetics
14.
Ann Hematol ; 103(2): 443-448, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38072850

ABSTRACT

Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an increased risk of thrombotic and hemorrhagic events, that represent the leading causes of mortality and morbidity. Currently, while thrombotic risk is assessed through the IPSET-t and r-IPSET scores, there is no specific prognostic tool used to predict hemorrhagic risk in ET. The aim of the study was to define incidence and risk factors connected to hemorrhagic events by retrospectively analyzing 308 ET patients diagnosed between 1996 and 2022 at the Division of Hematology of Udine and treated according to the current international guidelines. According to molecular status, 193 patients (62.7%) were JAK2 mutated, 66 (21.4%) had a CALR mutation, 14 (4.5%) had a MPL mutation, 21 patients (6.8%) were "triple negative," and 14 patients (4.5%) were not evaluable. According to IPSET-t score, 49.7% patients were at high, 24.3% at intermediate, and 26.0% at low-risk, respectively. Twelve (3.9%) patients experienced bleeding at ET diagnosis, while 24 (7.8%) had at least one hemorrhagic event during follow-up at a median time of 103 months (range: 1-309). Forty hemorrhagic events were totally recorded and defined as minor in 22 cases, moderate in 11 cases, and severe in 7 cases. Cumulative incidence (CI) of hemorrhage at 10 and 20 years was 6.0% and 12.0%, respectively. A statistically significant correlation between hemorrhagic risk and IPSET-t score emerged: 10 years hemorrhage CI was 3.2% for low-risk, 2.9% for intermediate-risk, and 9.8% for high-risk patients, respectively (p=0.002). We found no correlation between hemorrhagic risk and gender or mutational status. Results of our study highlight the validity of IPSET-t score in predicting individual hemorrhagic risk among ET patients, suggesting a possible role of IPSET-t scoring system as a global evaluator for vascular events in ET patients.


Subject(s)
Thrombocythemia, Essential , Thrombosis , Humans , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/genetics , Retrospective Studies , Thrombosis/epidemiology , Risk Factors , Prognosis , Hemorrhage/etiology , Hemorrhage/complications , Mutation , Janus Kinase 2/genetics , Calreticulin/genetics
16.
Ann Hematol ; 103(1): 97-103, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37946031

ABSTRACT

There are few prospective studies on patients with post-essential thrombocythemia myelofibrosis (PET-MF) and post-polycythemia vera myelofibrosis (PPV-MF). Therefore, we conducted a nationwide longitudinal prospective survey to clarify the clinical characteristics of these diseases. A total of 197 PET-MF and 117 PPV-MF patients diagnosed between 2012 and 2021 were analyzed. The median age at diagnosis was 70.0 years for both diseases. The time from diagnosis of ET or PV to that of MF was 9.6 and 10.4 years, respectively, with no significant difference. Patients with PPV-MF had higher hemoglobin levels and white blood cell counts than those with PET-MF, whereas those with PET-MF had higher platelet counts than those with PPV-MF. Although splenomegaly was more frequent in patients with PPV-MF at diagnosis, there was no difference in the frequency of constitutional symptoms. Ruxolitinib was the most common treatment administered to 74.6% and 83.8% of patients with PET-MF and PPV-MF, respectively. Patients with PET-MF and PPV-MF had similar prognoses, with 3-year overall survival (OS) of 0.742 in PET-MF and 0.768 in PPV-MF patients. In both diseases, leukemic transformation was the leading cause of death, followed by infection. The 3-year OS for patients with PET/PPV-MF and primary MF diagnosed during the same period was 0.754 and 0.626, respectively, with no significant difference. This survey provides real-world clinical features and prognostic data on secondary myelofibrosis in the ruxolitinib era.


Subject(s)
Polycythemia Vera , Primary Myelofibrosis , Thrombocythemia, Essential , Humans , Aged , Polycythemia Vera/complications , Polycythemia Vera/diagnosis , Polycythemia Vera/therapy , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/drug therapy , Primary Myelofibrosis/diagnosis , Primary Myelofibrosis/etiology , Primary Myelofibrosis/drug therapy , Prospective Studies
17.
Intern Med ; 63(6): 847-852, 2024 Mar 15.
Article in English | MEDLINE | ID: mdl-37495531

ABSTRACT

Essential thrombocythemia is a myeloproliferative neoplasm. Ischemic stroke is frequently the first manifestation of essential thrombocythemia. We herein report a patient with JAK2V617 mutation-positive essential thrombocythemia who developed recurrent ischemic stroke with rapid development of intracranial artery stenosis and subsequently underwent successful mechanical thrombectomy. The high JAK2V617F allele burden in our patient (58.4%) may have affected the patient's condition. We discuss similar reports in the literature and the possible pathophysiologic mechanism of large artery involvement in these patients.


Subject(s)
Ischemic Stroke , Thrombocythemia, Essential , Humans , Constriction, Pathologic , Thrombocythemia, Essential/complications , Arteries , Cerebral Infarction , Mutation , Thrombectomy , Janus Kinase 2/genetics
18.
Intern Med ; 63(3): 419-423, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-37344430

ABSTRACT

Bilateral adrenal infarction is an extremely rare disease, and it has been reported that some coagulation abnormalities, including essential thrombocythemia (ET), exist in the background. We herein report a 76-year-old patient in whom the platelet count had been in the normal range at the onset of adrenal infarction but subsequently increased to 102×104/µL at 7 months later, leading to the diagnosis of JAK2V617F-positive ET. As the presence of the JAK2V617F mutation increases the risk of thrombosis, Janus kinase 2 (JAK2) genetic testing should be considered in some cases of nonspecific unknown thrombosis, even if there are no obvious hematological findings, such as clonal hematopoiesis of indeterminate potential (CHIP).


Subject(s)
Adrenal Gland Diseases , Thrombocythemia, Essential , Thrombosis , Humans , Aged , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/genetics , Thrombosis/genetics , Platelet Count , Mutation , Infarction/diagnostic imaging , Infarction/etiology , Janus Kinase 2/genetics
19.
Zhonghua Yi Xue Za Zhi ; 103(45): 3603-3607, 2023 Dec 05.
Article in Chinese | MEDLINE | ID: mdl-38018058

ABSTRACT

Classical myeloproliferative neoplasms (MPN), also known as Ph-MPN, includes polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). Secondary myelofibrosis (sMF) and secondary acute myeloid leukemia (sAML) are important disease progressions of MPN. After MPN disease progression, hematopoietic stem cells undergo new clonal evolution, leading to drug resistance, poor treatment effect and poor survival of patients. In recent years, the exploration of the mechanism of disease progression and the precise diagnosis and treatment of MPN have attracted much attention. This article summarizes the research status of MPN disease progression, including the pathogenesis, risk stratification, and precision treatment, in order to provide reference for exploring new diagnosis and treatment methods of MPN disease progression.


Subject(s)
Myeloproliferative Disorders , Polycythemia Vera , Primary Myelofibrosis , Thrombocythemia, Essential , Humans , Myeloproliferative Disorders/complications , Polycythemia Vera/complications , Polycythemia Vera/therapy , Primary Myelofibrosis/diagnosis , Primary Myelofibrosis/etiology , Primary Myelofibrosis/therapy , Thrombocythemia, Essential/complications , Disease Progression , Mutation
20.
Am J Case Rep ; 24: e938547, 2023 Sep 28.
Article in English | MEDLINE | ID: mdl-37766423

ABSTRACT

BACKGROUND Essential thrombocytosis (ET) is a myeloproliferative neoplasm variant that leads to excessive platelet production in the bone marrow. Janus kinase 2 (JAK2) mutation is observed in 60% of ET cases. The risk of thrombosis increases with the presence of this mutation. ET can cause systemic thrombosis, including extra-portal vein thrombosis (EHPVT). In patients with ET-induced EHPVT, varied symptoms generally occur. However, our case was asymptomatic. This condition is relatively rare. CASE REPORT A 49-year-old woman presented to our hospital for a detailed clinical examination 1 month after a health examination, and blood tests revealed microcytic anemia and thrombocytosis. The patient had no current concerns and had no relevant medical or alcohol consumption history. Esophagogastroduodenoscopy demonstrated esophageal varices, with portal hypertension suspected as the underlying cause. Contrast-enhanced computed tomography scans revealed a thrombus in the portal vein, but liver cirrhosis and a tumor were ruled out. JAK2 mutation was positive, which led to myeloproliferative neoplasms being considered as the differential diagnosis. Bone marrow biopsy demonstrated many mature megakaryocytes with large and irregular nuclei and platelet aggregation in the field of view, leading to the diagnosis of ET. CONCLUSIONS This case study describes a patient with EHPVT caused by JAK2-positive ET. This case report emphasizes that physicians should consider myeloproliferative neoplasms as part of their differential diagnosis when presented with EHPVT.


Subject(s)
Bone Marrow Neoplasms , Thrombocythemia, Essential , Thrombocytosis , Thrombosis , Venous Thrombosis , Female , Humans , Middle Aged , Portal Vein , Thrombocythemia, Essential/complications , Thrombocythemia, Essential/diagnosis , Thrombocythemia, Essential/genetics , Venous Thrombosis/diagnosis , Venous Thrombosis/etiology , Thrombosis/complications , Thrombocytosis/diagnosis , Thrombocytosis/etiology , Bone Marrow Neoplasms/pathology
SELECTION OF CITATIONS
SEARCH DETAIL
...