Essential thrombocythemia is classified as a chronic myeloproliferative disorder characterized by the overproduction of platelets stemming from a megakaryocytic clone. The diagnosis primarily relies on bone marrow bio...Essential thrombocythemia is classified as a chronic myeloproliferative disorder characterized by the overproduction of platelets stemming from a megakaryocytic clone. The diagnosis primarily relies on bone marrow biopsy findings and the detection of the JAK2 V617F mutation, after the exclusion of secondary thrombocytosis due to conditions such as inflammation, hemolysis, infection, and iron deficiency. On the other hand, Ulcerative colitis represents an inflammatory disorder of the colon. The diagnosis of ulcerative colitis is established through clinical assessment, endoscopic examination, and histological criteria, without a discernible alternative etiology. The concomitant occurrence of these two conditions is infrequent. We present the case of an 85-year-old patient with a history of essential thrombocythemia who exhibited gastrointestinal symptoms characterized by alternating episodes of diarrhea and constipation. A subsequent colonoscopy accompanied by a biopsy revealed histological features consistent with ulcerative colitis. The patient was administered cytoreductive therapy in combination with mesalazine, resulting in favorable outcomes. Current literature addressing this association is limited, indicating the need for further investigative studies to elucidate the causal relationships between these two pathologies and to achieve improved therapeutic management strategies.展开更多
BACKGROUND The complexity of immunoglobulin G4(IgG4)-related diseases and their potential connection to hematologic malignancies remains unclear.This article provided a review of the diagnosis and treatment of a patie...BACKGROUND The complexity of immunoglobulin G4(IgG4)-related diseases and their potential connection to hematologic malignancies remains unclear.This article provided a review of the diagnosis and treatment of a patient with IgG4-related sclerosing cholangitis(SC)and essential thrombocythemia(ET),along with an analysis of relevant literature to enhance comprehension of this disease.CASE SUMMARY A 56-year-old male was admitted to two hospitals with deteriorating jaundice and pruritus prior to hospitalization.Beyond our expectations,the patient was first diagnosed with IgG4-SC and ET with the Janus kinase 2 V617F mutation.Interestingly,the administration of acetate prednisone significantly resulted in improvements in both IgG4-SC and ET.Clinicians need to pay attention to immune disorders and inflammation as they contribute to the development of various disease phenotypes.CONCLUSION When IgG4-SC is suspected without histopathological evidence,diagnostic therapy and long-term regular follow-up can lead to positive treatment outcomes.Clinicians should be mindful of the potential presence of concurrent hematologic diseases in patients with immune disorders.展开更多
Medical history summary: Male, 47 years old, was admitted to the hospital due to “dizziness accompanied by chest tightness and pain for more than 8 days”. One week ago, the patient experienced chest tightness, chest...Medical history summary: Male, 47 years old, was admitted to the hospital due to “dizziness accompanied by chest tightness and pain for more than 8 days”. One week ago, the patient experienced chest tightness, chest pain accompanied by profuse sweating for 3 hours and underwent emergency percutaneous coronary intervention (PCI) at a local hospital. The procedure revealed left main stem occlusion with subsequent left main stem to left anterior descending artery percutaneous transluminal coronary angioplasty (PTCA). After the procedure, the patient experienced hemodynamic instability, recurrent ventricular fibrillation, and critical condition, thus transferred to our hospital for further treatment. Symptoms and signs: The patient is in a comatose state, unresponsive to stimuli, with bilateral dilated pupils measuring 2.0 mm, exhibiting reduced sensitivity to light reflex, and recurrent fever. Coarse breath sounds can be heard in both lungs, with audible moist rales. Irregular breathing pattern is observed, and heart sounds vary in intensity. No pathological murmurs are auscultated in any valve auscultation area. Diagnostic methods: Coronary angiography results at the local hospital showed complete occlusion of the left main stem, and left main stem to left anterior descending artery percutaneous transluminal coronary angioplasty (PTCA) was performed. However, the distal guidewire did not pass through. After admission, blood tests showed a Troponin T level of 1.44 ng/ml and a Myoglobin level of 312 ng/ml. The platelet count was 1390 × 10<sup>9</sup>/L. Von Willebrand factor (vWF) activity was measured at 201.9%. Bone marrow aspiration biopsy showed active bone marrow proliferation and platelet clustering. The peripheral blood smear also showed platelet clustering. JAK-2 gene testing was positive, confirming the diagnosis of primary thrombocytosis. Treatment methods: The patient is assisted with mechanical ventilation and intra-aortic balloon counterpulsation to improve coronary blood flow. Electrolyte levels are closely monitored, especially maintaining plasma potassium levels between 4.0 and 4.5 mmol/l. Hydroxyurea 500 mg is administered for platelet reduction. Anticoagulants and antiplatelet agents are used rationally to prevent further infarction or bleeding. Antiarrhythmic, lipid-lowering, gastroprotective, hepatoprotective, and heart failure treatment are also provided. Clinical outcome: The family members chose to withdraw treatment and signed for discharge due to a combination of reasons, including economic constraints and uncertainty about the prognosis due to the long disease course. Acute myocardial infarction has gradually become one of the leading causes of death in our country. As a “green channel” disease, corresponding diagnostic and treatment protocols have been established in China, and significant progress has been made in emergency care. There are strict regulations for the time taken from the catheterization lab to the cardiac intensive care unit, and standardized treatments are provided to patients once they enter the intensive care unit. Research results show that the incidence of acute myocardial infarction in patients with primary thrombocythemia within 10 years is 9.4%. This type of disease is rare and difficult to cure, posing significant challenges to medical and nursing professionals. In order to benefit future patients, we have documented individual cases of treatment and nursing care for these patients. The research results show that these patients exhibit resistance to traditional oral anticoagulant drugs and require alternative anticoagulants. Additionally, there are significant differences in serum and plasma potassium levels among patients. Therefore, when making clinical diagnoses, it is necessary to carefully distinguish between the two. Particularly, nursing personnel should possess dialectical thinking when supplementing potassium levels in patients in order to reduce the incidence of malignant arrhythmias and mortality rates.展开更多
Myelofibrosis (MF) represents the major long-term complication of essential thrombocythemia (ET). There is evidence that leukocytosis at diagnosis is associated with poorer survival in patients with ET. In this study,...Myelofibrosis (MF) represents the major long-term complication of essential thrombocythemia (ET). There is evidence that leukocytosis at diagnosis is associated with poorer survival in patients with ET. In this study, we retrospectively evaluated 143 patients with ET, diagnosed in agreement with WHO criteria, followed in a single centre over >10 years. Nine of them transformed into MF (post-essential thrombocythemia-myelofibrosis PET-MF). We compared PET-MF data at diagnosis with that of the remaining 134 patients (ET-1) and with a selected sub-group of ET-1 (ET-2, 19 pats) sex, age and follow-up duration matched to PET-MF. The PET-MF evolution rate was 4.6 per 1000 person-years;white blood cells count (WBC) count, haemoglobin levels and hematocrit were higher in PET-MF than in ET-1 (P = 0.01) while only WBC was higher than in ET-2 (P = 0.01). With multivariate analysis, only WBC count retained its signifi-cance. Our study highlights the prognostic relevance of leukocytosis on myelofibrotic transformation of ET.展开更多
We report a case of essential thrombocythemia(ET) in a 30-year-old female who exhibited inferior wall ST-elevation acute myocardial infarction(AMI) without significant obstructive coronary artery disease.Right coronar...We report a case of essential thrombocythemia(ET) in a 30-year-old female who exhibited inferior wall ST-elevation acute myocardial infarction(AMI) without significant obstructive coronary artery disease.Right coronary vasospasm was observed after intra-coronary methylergonovine administration and she received verapamil 120 mg/d thereafter and hydroxyurea 1500 mg/d for thrombocythemia.After discontinuation of the hydroxyurea for 9 mo based on the impression of coronary spasm-related instead of coronary thrombosis-related AMI,her platelet count rose but no chest pain was observed.It is suggested that coronary spasm potentially plays a role in patients with ET,AMI and no significant coronary artery stenosis.展开更多
Prospective studies indicate that the risk of microvascular and major thrombosis in untreated thrombocythemia in various myeloproliferative neoplasms(MPN-T) is not age dependent and causally related to platelet-mediat...Prospective studies indicate that the risk of microvascular and major thrombosis in untreated thrombocythemia in various myeloproliferative neoplasms(MPN-T) is not age dependent and causally related to platelet-mediated thrombosis in early, intermediate and advanced stages of thrombocythemia in MPN-T. If left untreated both microvascular and major thrombosis frequently do occur in MPN-T, but can easily be cured and prevented by low dose aspirin as platelet counts are above 350 × 109/L. The thrombotic risk stratification in the retrospective Bergamo study has been performed in 100 essential thrombocythemia(ET) patients not treated with aspirin thereby overlooking the discovery in 1985 of aspirin responsive platelet-mediated arteriolar and arterial thrombotic tendency in MPN-T disease of ET and polycythemia vera(PV) patients. The Bergamo definition of high thrombotic risk and its persistence in the 2012 International Prognostic Score for ET is based on statistic mystification and not applicable for low and intermediate MPN-T disease burden in ET and PV patients on aspirin. With the advent of molecular screening of MPN patients, MPN-T disease associated with significant leukocytosis, thrombocytosis, constitutional symptoms and/or moderate splenomegaly are candidates for low dose peglyated interferon(Pegasys R, 45 mg/m L once per week or every two weeks) as the first line myeloreductive treatment option in JAK2V617 F mutated MPN-T disease in ET and PV patients. If non-responsive to or side effects induced by IFN, hydroxyurea is the second line myelosuppressive treatment option in JAK2V617 F mutated ET and PV patients with increased MPN-T disease burden.展开更多
Essential thrombocythemia(ET) and polycythemia vera(PV) frequently present with erythromelalgia and acrocyanotic complications, migraine-like microvascular cerebral and ocular transient ischemic attacks(MIAs) and/or a...Essential thrombocythemia(ET) and polycythemia vera(PV) frequently present with erythromelalgia and acrocyanotic complications, migraine-like microvascular cerebral and ocular transient ischemic attacks(MIAs) and/or acute coronary disease. The spectrum of MIAs in ET range from poorly localized symptoms of transient unsteadiness, dysarthria and scintillating scotoma to focal symptoms of transient monocular blindness, transient mono- or hemiparesis or both. The attacks all have a sudden onset, occur sequentially rather than simultaneously, last for a few seconds to several minutes and are usually associated with a dull, pulsatile or migraine-like headache. Increased hematocrit and blood viscosity in PV patients aggravate the microvascular ischemic syndrome of thrombocythemia to major arterial and venous thrombotic complications. Phlebotomy to correct hematocrit to normal in PV significantly reduces major arterial and venous thrombotic complications, but fails to prevent the platelet-mediated erythromelalgia and MIAs. Complete long-term relief of the erythromelalgic microvascular disturbances, MIAs and major thrombosis in ET and PV patients can be obtained with low dose aspirin and platelet reduction to normal, but not with anticoagulation. Skin punch biopsies from the erythromelalgic area show fibromuscular intimal proliferation of arterioles complicated by occlusive plateletrich thrombi leading to acrocyanotic ischemia. Symptomatic ET patients with erythromelalgic microvascular disturbances have shortened platelet survival, increased platelet activation markers β-thromboglobulin(β-TG), platelet factor 4(PF4) and thrombomoduline(TM), increased urinary thromboxane B2(TXB2) excretion, and no activation of the coagulation markers thrombin fragments F1+2 and fibrin degradation products. Inhibition of platelet cyclooxygenase(COX1) by aspirin is followed by the disappearance and no recurrence of microvascular disturbances, increase in platelet number, correction of the shortened platelet survival times to normal, and reduction of increased plasma levels of β-TG, PF4, TM and urinary TXB2 excretion to normal. These results indicate that platelet-mediated fibromuscular intimal proliferation and platelet-rich thrombi in the peripheral, cerebral and coronary end-arterial microvasculature are responsible for the erythromelalgic ischemic complica-tions, MIAs and splanchnic vein thrombosis. Baseline platelet P-selectin levels and arachidonic acid induced COX1 mediated platelet activation showed a highly significant increase of platelet P-selectin expression(not seen in ADP and collagen stimulated platelets), which was significantly higher in JAK2V617 F mutated compared to JAK2 wild type ET.展开更多
AIM:To determine the risk of second primary malignancy(SPM)and survival of patients with essential thrombocythemia(ET).METHODS:We identified all patients with ET diagnosed during 2001 to 2011 from the Surveillance,Epi...AIM:To determine the risk of second primary malignancy(SPM)and survival of patients with essential thrombocythemia(ET).METHODS:We identified all patients with ET diagnosed during 2001 to 2011 from the Surveillance,Epidemiology and End Results(SEER)18 database.Actuarial and relative survival methods were used to calculate the survival statistics.We utilized the SEER 13 database to calculate SPM.We used multiple primary standardized incidence ratio(SIR)session of the SEER*Stat software(version 8.1.5)to calculate SIR and excess risk of SPM for ET patients.RESULTS:Age standardized five-year cause-specific survival was greater for patients<50 years vs those≥50 years(99.4%vs 93.5%,P<0.01).Five-year causespecific survival was lower for men vs women(70.2%vs 79.7%).A total of 201 patients(2.46%)developed SPM at a median age of 75 years.SPMs occurred at an observed/expected(O/E)ratio of 1.26(95%CI:1.09-1.45,P=0.002)with an absolute excess risk(AER)of 37.44 per 10000 population.A significantly higher risk was noted for leukemia(O/E 3.78;95%CI:2.20-6.05,P<0.001;AER 11.28/10000).CONCLUSION:ET patients have an excellent causespecific five-year survival but are at an increased risk of SPM,particularly leukemia,which may contribute to excess deaths.展开更多
BACKGROUND Gastroesophageal varices are a rare complication of essential thrombocythemia(ET).ET is a chronic myeloproliferative neoplasm(MPN)characterized by an increased number of blood platelets.CASE SUMMARY A 46-ye...BACKGROUND Gastroesophageal varices are a rare complication of essential thrombocythemia(ET).ET is a chronic myeloproliferative neoplasm(MPN)characterized by an increased number of blood platelets.CASE SUMMARY A 46-year-old woman,who denied a history of liver disease,was admitted to our hospital on presentation of hematemesis.Laboratory examination revealed a hemoglobin level of 83 g/L,and a platelet count of 397×109/L.The appearance of gastric and esophageal varices with red colored signs as displayed by an urgent endoscopy was followed by endoscopic variceal ligation and endoscopic tissue adhesive.Abdominal computed tomography revealed cirrhosis,marked splenomegaly,portal vein thrombosis and portal hypertension.In addition,bone marrow biopsy and evidence of mutated Janus kinase 2,substantiated the onset of ET.The patient was asymptomatic with regular routine blood testing during the 6-mo follow-up period.Therefore,in this case,gastroesophageal varices were induced by ET.CONCLUSION MPN should be given considerable attention when performing differential diagnoses in patients with gastroesophageal varices.An integrated approach such as laboratory tests,radiological examination,and pathological biopsy,should be included to allow optimal decisions and management.展开更多
Essential thrombocythemia with abdominal thrombotic is frequently associated complications including portal cavernoma as a consequence of chronic portal vein thrombosis. Essential thrombocythemia in a latent form is d...Essential thrombocythemia with abdominal thrombotic is frequently associated complications including portal cavernoma as a consequence of chronic portal vein thrombosis. Essential thrombocythemia in a latent form is difficult to identify at onset due to the absence of an overt disease phenotype. In the presented case report, the diagnosis of essential thrombocythemia was initially missed because the typical disease phenotype was masked by bleeding and hypersplenism. The correct diagnosis was only reached when the patient experienced persistent thrombocytosis and pseudohyperkalemia after a shunt operation.展开更多
BACKGROUND Hyperkalemia is one of the most common complications of chronic renal failure.Pseudohyperkalemia is caused by elevated levels of serum potassium in vitro and is usually accompanied by thrombocythemia.Althou...BACKGROUND Hyperkalemia is one of the most common complications of chronic renal failure.Pseudohyperkalemia is caused by elevated levels of serum potassium in vitro and is usually accompanied by thrombocythemia.Although an elevated level of potassium is typically correlated with impaired renal function,pseudohyperkalemia has been rarely reported in patients with chronic renal failure.Here,we conducted a review of the literature to study the case of pseudohyperkalemia caused by the essential thrombocythemia in a patient with chronic renal failure.CASE SUMMARY A 73-year-old woman was admitted to our hospital with complaints of palpitation,dyspnea,and acratia for 2 d and a history of essential thrombocythemia for 1 year.The routine blood test showed platelet count of 1460×10^9/L,and biochemistry tests showed that the patient suffered from hyperkalemia(potassium:7.50 mmol/L)and renal failure(estimated glomerular filtration rate:8.88 mL/min).Initial treatment included medicines to lower her potassium-levels and hemodialysis.However,the therapy did not affect her serum potassium levels.Plasma potassium concentration measurements and a history of essential thrombocythemia established the diagnosis of pseudohyperkalemia.The treatments of the platelet disorder gradually normalized serum potassium levels;however,the treatments had to be discontinued later due to the severe leukopenia,and enhanced levels of serum potassium concentrations were observable in the patient.Since plasma sampling was not permitted,doctors had to use a diuretic just in case.Finally,the patient collapsed into unconsciousness and died due to multiple organ dysfunction and electrolyte disturbance.CONCLUSION We reviewed the literature and suggest that serum and plasma potassium values should both be measured for patients whose platelet counts exceed 500×10^9/L to eliminate chances of pseudohyperkalemia,especially for those with chronic renal failure.An inappropriate treatment for pseudohyperkalemia can aggravate a patient's condition.展开更多
BACKGROUND We report a case of essential thrombocythemia(ET)in a 44-year-old male who exhibited non-ST-segment-elevation myocardial infarction(NSTEMI)as the first manifestation without known cardiovascular risk factor...BACKGROUND We report a case of essential thrombocythemia(ET)in a 44-year-old male who exhibited non-ST-segment-elevation myocardial infarction(NSTEMI)as the first manifestation without known cardiovascular risk factors(CVRFs).For the first time,we reported a left main trifurcation lesion in NSTEMI caused by ET,including continuous stenosis lesions from the left main to the ostial left anterior descending(LAD)artery and an obvious thrombotic lesion in the ostial and proximal left circumflex(LCX)artery.There was 60%diffuse stenosis in the left main(LM)that extended to the ostial LAD,thrombosis of the ostial LAD and proximal LCX,and 90%stenosis in the proximal LCX.During the operation,thrombus aspiration was performed,but no obvious thrombus was aspirated.Performing the kissing balloon technique(KBT)in the LCX and LM unexpectedly increased the narrowness of the LAD.Then,the single-stent crossover technique,final kissing balloon technique and proximal optimization technique(POT)were performed.On the second day after percutaneous coronary intervention(PCI),the number of platelets(PLTs)still increased significantly to as high as 696×10^(9)/L.The bone marrow biopsy done later,together with JAK2(exon 14)V617F mutation,confirms the diagnosis of ET.Hydroxyurea was administered to inhibit bone marrow proliferation to control the number of PLTs.CASE SUMMARY A 44-year-old male patient went to a local hospital for treatment for intermittent chest pain occurring over 8 h.The examination at the local hospital revealed elevated cTnI and significantly elevated platelet.Then,he was diagnosed with acute myocardial infarction and transferred to our hospital for emergency interventional treatment by ambulance.During the operation,thrombus aspiration,the single-stent crossover technique,final kissing balloon technique and POT were performed.Dual antiplatelet therapy comprising aspirin and ticagrelor was used after PCI.Evidence of mutated JAK2 V617F and bone marrow biopsy shown the onset of ET.Together with JAK2(exon 14)V617F mutation,ET was diagnosed according to the World Health Organization(WHO)diagnostic criteria,and the patient was placed on hydroxyurea.During the one-year postoperative period,repeated examinations showed a slight increase in PLTs,but the patient no longer had chest tightness,chest pain or bleeding or developed new thromboembolisms.CONCLUSION Routine physical examinations and screenings are conducive to the early detection of ET,and the risk for thrombosis should be assessed.Then,active antiplatelet therapy and myelosuppression therapy should be used for high-risk ET patients.展开更多
BACKGROUND Chest wall tuberculosis(TB)and triple-negative essential thrombocythemia(TNET)are rare medical conditions,and their combination is extremely rare globally.Only one case of TB peritonitis with thrombocytosis...BACKGROUND Chest wall tuberculosis(TB)and triple-negative essential thrombocythemia(TNET)are rare medical conditions,and their combination is extremely rare globally.Only one case of TB peritonitis with thrombocytosis has been reported,which was identified in 1974.CASE SUMMARY Herein,we report the case of a 23-year-old man with concurrent chest wall mass and TN-ET.The patient presented to a local hospital due to having a headache and low-grade fever for 2 d,with their bodily temperature fluctuating at around 36.8°C.Hematological analysis showed a high platelet count of 1503×109/L.Subsequently,the patient visited our hospital for further investigation.Computed tomography of the chest suggested a submural soft tissue density shadow in the left lower chest wall.After surgical resection,the pathological findings of the swelling were reported as TB with massive caseous necrosis.According to the World Health Organization diagnostic criteria,the patient was diagnosed with TN-ET,as they met the requirement of four main criteria or the first three main criteria and one secondary criterion.The patient was eventually diagnosed with chest wall TB with TN-ET,which is extremely rare.CONCLUSION Chest wall TB is rare.TN-ET diagnosis requires secondary factor exclusion and satisfaction of primary diagnostic criteria.miRNA,combined with the methylation process,could explain suppressor of cytokine signaling(SOCS)1 and SOCS3 downregulation in ET-JAK2V617F-negative patients.The miRNA could participate in JAK2 pathway activation.SOCS3 may be a novel MPN biomarker.展开更多
INTRODUCTION Essential thrombocythemia （ET） belongs to a family of related disorders characterized by uncontrolled cell growth, named myeloprolifer- ative diseases （MPD）, including polycythemia- vera （PV） and p...INTRODUCTION Essential thrombocythemia （ET） belongs to a family of related disorders characterized by uncontrolled cell growth, named myeloprolifer- ative diseases （MPD）, including polycythemia- vera （PV） and primary myelofibrosis （PMF）. The presenting features of ET canrange from being asymptomatic to thrombohemorrhagic complications. Here, we report a case of ET accompanied by acute myocardium infraction （AMI） and gastrointestinal bleeding. The diag- nosis and treatment of ET will also be discussed.展开更多
BACKGROUND Hydroxyurea,an antimetabolite,is frequently prescribed for various hemato-logical disorders,and its common side effects include gastrointestinal problems,cutaneous or mucosal lesions and pyrexia/fever.CASE ...BACKGROUND Hydroxyurea,an antimetabolite,is frequently prescribed for various hemato-logical disorders,and its common side effects include gastrointestinal problems,cutaneous or mucosal lesions and pyrexia/fever.CASE SUMMARY This study reports the case of a 67-year-old woman who developed recurrent abdominal pain after 10 years of continuous hydroxyurea therapy for primary thrombocythemia.Colonoscopy revealed an ileocecal ulcer.After discontinuing hydroxyurea therapy for 6 months,follow-up colonoscopy showed a significant reduction in the ulceration.CONCLUSION We consider cecal ulcers as a rare complication of hydroxyurea therapy which typically resolves upon stopping the drug.展开更多
文摘Essential thrombocythemia is classified as a chronic myeloproliferative disorder characterized by the overproduction of platelets stemming from a megakaryocytic clone. The diagnosis primarily relies on bone marrow biopsy findings and the detection of the JAK2 V617F mutation, after the exclusion of secondary thrombocytosis due to conditions such as inflammation, hemolysis, infection, and iron deficiency. On the other hand, Ulcerative colitis represents an inflammatory disorder of the colon. The diagnosis of ulcerative colitis is established through clinical assessment, endoscopic examination, and histological criteria, without a discernible alternative etiology. The concomitant occurrence of these two conditions is infrequent. We present the case of an 85-year-old patient with a history of essential thrombocythemia who exhibited gastrointestinal symptoms characterized by alternating episodes of diarrhea and constipation. A subsequent colonoscopy accompanied by a biopsy revealed histological features consistent with ulcerative colitis. The patient was administered cytoreductive therapy in combination with mesalazine, resulting in favorable outcomes. Current literature addressing this association is limited, indicating the need for further investigative studies to elucidate the causal relationships between these two pathologies and to achieve improved therapeutic management strategies.
基金Natural Science Foundation of Hebei Province,No.H2023206042。
文摘BACKGROUND The complexity of immunoglobulin G4(IgG4)-related diseases and their potential connection to hematologic malignancies remains unclear.This article provided a review of the diagnosis and treatment of a patient with IgG4-related sclerosing cholangitis(SC)and essential thrombocythemia(ET),along with an analysis of relevant literature to enhance comprehension of this disease.CASE SUMMARY A 56-year-old male was admitted to two hospitals with deteriorating jaundice and pruritus prior to hospitalization.Beyond our expectations,the patient was first diagnosed with IgG4-SC and ET with the Janus kinase 2 V617F mutation.Interestingly,the administration of acetate prednisone significantly resulted in improvements in both IgG4-SC and ET.Clinicians need to pay attention to immune disorders and inflammation as they contribute to the development of various disease phenotypes.CONCLUSION When IgG4-SC is suspected without histopathological evidence,diagnostic therapy and long-term regular follow-up can lead to positive treatment outcomes.Clinicians should be mindful of the potential presence of concurrent hematologic diseases in patients with immune disorders.
文摘Medical history summary: Male, 47 years old, was admitted to the hospital due to “dizziness accompanied by chest tightness and pain for more than 8 days”. One week ago, the patient experienced chest tightness, chest pain accompanied by profuse sweating for 3 hours and underwent emergency percutaneous coronary intervention (PCI) at a local hospital. The procedure revealed left main stem occlusion with subsequent left main stem to left anterior descending artery percutaneous transluminal coronary angioplasty (PTCA). After the procedure, the patient experienced hemodynamic instability, recurrent ventricular fibrillation, and critical condition, thus transferred to our hospital for further treatment. Symptoms and signs: The patient is in a comatose state, unresponsive to stimuli, with bilateral dilated pupils measuring 2.0 mm, exhibiting reduced sensitivity to light reflex, and recurrent fever. Coarse breath sounds can be heard in both lungs, with audible moist rales. Irregular breathing pattern is observed, and heart sounds vary in intensity. No pathological murmurs are auscultated in any valve auscultation area. Diagnostic methods: Coronary angiography results at the local hospital showed complete occlusion of the left main stem, and left main stem to left anterior descending artery percutaneous transluminal coronary angioplasty (PTCA) was performed. However, the distal guidewire did not pass through. After admission, blood tests showed a Troponin T level of 1.44 ng/ml and a Myoglobin level of 312 ng/ml. The platelet count was 1390 × 10<sup>9</sup>/L. Von Willebrand factor (vWF) activity was measured at 201.9%. Bone marrow aspiration biopsy showed active bone marrow proliferation and platelet clustering. The peripheral blood smear also showed platelet clustering. JAK-2 gene testing was positive, confirming the diagnosis of primary thrombocytosis. Treatment methods: The patient is assisted with mechanical ventilation and intra-aortic balloon counterpulsation to improve coronary blood flow. Electrolyte levels are closely monitored, especially maintaining plasma potassium levels between 4.0 and 4.5 mmol/l. Hydroxyurea 500 mg is administered for platelet reduction. Anticoagulants and antiplatelet agents are used rationally to prevent further infarction or bleeding. Antiarrhythmic, lipid-lowering, gastroprotective, hepatoprotective, and heart failure treatment are also provided. Clinical outcome: The family members chose to withdraw treatment and signed for discharge due to a combination of reasons, including economic constraints and uncertainty about the prognosis due to the long disease course. Acute myocardial infarction has gradually become one of the leading causes of death in our country. As a “green channel” disease, corresponding diagnostic and treatment protocols have been established in China, and significant progress has been made in emergency care. There are strict regulations for the time taken from the catheterization lab to the cardiac intensive care unit, and standardized treatments are provided to patients once they enter the intensive care unit. Research results show that the incidence of acute myocardial infarction in patients with primary thrombocythemia within 10 years is 9.4%. This type of disease is rare and difficult to cure, posing significant challenges to medical and nursing professionals. In order to benefit future patients, we have documented individual cases of treatment and nursing care for these patients. The research results show that these patients exhibit resistance to traditional oral anticoagulant drugs and require alternative anticoagulants. Additionally, there are significant differences in serum and plasma potassium levels among patients. Therefore, when making clinical diagnoses, it is necessary to carefully distinguish between the two. Particularly, nursing personnel should possess dialectical thinking when supplementing potassium levels in patients in order to reduce the incidence of malignant arrhythmias and mortality rates.
文摘Myelofibrosis (MF) represents the major long-term complication of essential thrombocythemia (ET). There is evidence that leukocytosis at diagnosis is associated with poorer survival in patients with ET. In this study, we retrospectively evaluated 143 patients with ET, diagnosed in agreement with WHO criteria, followed in a single centre over >10 years. Nine of them transformed into MF (post-essential thrombocythemia-myelofibrosis PET-MF). We compared PET-MF data at diagnosis with that of the remaining 134 patients (ET-1) and with a selected sub-group of ET-1 (ET-2, 19 pats) sex, age and follow-up duration matched to PET-MF. The PET-MF evolution rate was 4.6 per 1000 person-years;white blood cells count (WBC) count, haemoglobin levels and hematocrit were higher in PET-MF than in ET-1 (P = 0.01) while only WBC was higher than in ET-2 (P = 0.01). With multivariate analysis, only WBC count retained its signifi-cance. Our study highlights the prognostic relevance of leukocytosis on myelofibrotic transformation of ET.
文摘We report a case of essential thrombocythemia(ET) in a 30-year-old female who exhibited inferior wall ST-elevation acute myocardial infarction(AMI) without significant obstructive coronary artery disease.Right coronary vasospasm was observed after intra-coronary methylergonovine administration and she received verapamil 120 mg/d thereafter and hydroxyurea 1500 mg/d for thrombocythemia.After discontinuation of the hydroxyurea for 9 mo based on the impression of coronary spasm-related instead of coronary thrombosis-related AMI,her platelet count rose but no chest pain was observed.It is suggested that coronary spasm potentially plays a role in patients with ET,AMI and no significant coronary artery stenosis.
文摘Prospective studies indicate that the risk of microvascular and major thrombosis in untreated thrombocythemia in various myeloproliferative neoplasms(MPN-T) is not age dependent and causally related to platelet-mediated thrombosis in early, intermediate and advanced stages of thrombocythemia in MPN-T. If left untreated both microvascular and major thrombosis frequently do occur in MPN-T, but can easily be cured and prevented by low dose aspirin as platelet counts are above 350 × 109/L. The thrombotic risk stratification in the retrospective Bergamo study has been performed in 100 essential thrombocythemia(ET) patients not treated with aspirin thereby overlooking the discovery in 1985 of aspirin responsive platelet-mediated arteriolar and arterial thrombotic tendency in MPN-T disease of ET and polycythemia vera(PV) patients. The Bergamo definition of high thrombotic risk and its persistence in the 2012 International Prognostic Score for ET is based on statistic mystification and not applicable for low and intermediate MPN-T disease burden in ET and PV patients on aspirin. With the advent of molecular screening of MPN patients, MPN-T disease associated with significant leukocytosis, thrombocytosis, constitutional symptoms and/or moderate splenomegaly are candidates for low dose peglyated interferon(Pegasys R, 45 mg/m L once per week or every two weeks) as the first line myeloreductive treatment option in JAK2V617 F mutated MPN-T disease in ET and PV patients. If non-responsive to or side effects induced by IFN, hydroxyurea is the second line myelosuppressive treatment option in JAK2V617 F mutated ET and PV patients with increased MPN-T disease burden.
文摘Essential thrombocythemia(ET) and polycythemia vera(PV) frequently present with erythromelalgia and acrocyanotic complications, migraine-like microvascular cerebral and ocular transient ischemic attacks(MIAs) and/or acute coronary disease. The spectrum of MIAs in ET range from poorly localized symptoms of transient unsteadiness, dysarthria and scintillating scotoma to focal symptoms of transient monocular blindness, transient mono- or hemiparesis or both. The attacks all have a sudden onset, occur sequentially rather than simultaneously, last for a few seconds to several minutes and are usually associated with a dull, pulsatile or migraine-like headache. Increased hematocrit and blood viscosity in PV patients aggravate the microvascular ischemic syndrome of thrombocythemia to major arterial and venous thrombotic complications. Phlebotomy to correct hematocrit to normal in PV significantly reduces major arterial and venous thrombotic complications, but fails to prevent the platelet-mediated erythromelalgia and MIAs. Complete long-term relief of the erythromelalgic microvascular disturbances, MIAs and major thrombosis in ET and PV patients can be obtained with low dose aspirin and platelet reduction to normal, but not with anticoagulation. Skin punch biopsies from the erythromelalgic area show fibromuscular intimal proliferation of arterioles complicated by occlusive plateletrich thrombi leading to acrocyanotic ischemia. Symptomatic ET patients with erythromelalgic microvascular disturbances have shortened platelet survival, increased platelet activation markers β-thromboglobulin(β-TG), platelet factor 4(PF4) and thrombomoduline(TM), increased urinary thromboxane B2(TXB2) excretion, and no activation of the coagulation markers thrombin fragments F1+2 and fibrin degradation products. Inhibition of platelet cyclooxygenase(COX1) by aspirin is followed by the disappearance and no recurrence of microvascular disturbances, increase in platelet number, correction of the shortened platelet survival times to normal, and reduction of increased plasma levels of β-TG, PF4, TM and urinary TXB2 excretion to normal. These results indicate that platelet-mediated fibromuscular intimal proliferation and platelet-rich thrombi in the peripheral, cerebral and coronary end-arterial microvasculature are responsible for the erythromelalgic ischemic complica-tions, MIAs and splanchnic vein thrombosis. Baseline platelet P-selectin levels and arachidonic acid induced COX1 mediated platelet activation showed a highly significant increase of platelet P-selectin expression(not seen in ADP and collagen stimulated platelets), which was significantly higher in JAK2V617 F mutated compared to JAK2 wild type ET.
基金Supported by The University of Nebraska Medical Center,College of Medicine,Physician-Scientist Training Program Grant 2015-2016(to Bhatt VR).
文摘AIM:To determine the risk of second primary malignancy(SPM)and survival of patients with essential thrombocythemia(ET).METHODS:We identified all patients with ET diagnosed during 2001 to 2011 from the Surveillance,Epidemiology and End Results(SEER)18 database.Actuarial and relative survival methods were used to calculate the survival statistics.We utilized the SEER 13 database to calculate SPM.We used multiple primary standardized incidence ratio(SIR)session of the SEER*Stat software(version 8.1.5)to calculate SIR and excess risk of SPM for ET patients.RESULTS:Age standardized five-year cause-specific survival was greater for patients<50 years vs those≥50 years(99.4%vs 93.5%,P<0.01).Five-year causespecific survival was lower for men vs women(70.2%vs 79.7%).A total of 201 patients(2.46%)developed SPM at a median age of 75 years.SPMs occurred at an observed/expected(O/E)ratio of 1.26(95%CI:1.09-1.45,P=0.002)with an absolute excess risk(AER)of 37.44 per 10000 population.A significantly higher risk was noted for leukemia(O/E 3.78;95%CI:2.20-6.05,P<0.001;AER 11.28/10000).CONCLUSION:ET patients have an excellent causespecific five-year survival but are at an increased risk of SPM,particularly leukemia,which may contribute to excess deaths.
文摘BACKGROUND Gastroesophageal varices are a rare complication of essential thrombocythemia(ET).ET is a chronic myeloproliferative neoplasm(MPN)characterized by an increased number of blood platelets.CASE SUMMARY A 46-year-old woman,who denied a history of liver disease,was admitted to our hospital on presentation of hematemesis.Laboratory examination revealed a hemoglobin level of 83 g/L,and a platelet count of 397×109/L.The appearance of gastric and esophageal varices with red colored signs as displayed by an urgent endoscopy was followed by endoscopic variceal ligation and endoscopic tissue adhesive.Abdominal computed tomography revealed cirrhosis,marked splenomegaly,portal vein thrombosis and portal hypertension.In addition,bone marrow biopsy and evidence of mutated Janus kinase 2,substantiated the onset of ET.The patient was asymptomatic with regular routine blood testing during the 6-mo follow-up period.Therefore,in this case,gastroesophageal varices were induced by ET.CONCLUSION MPN should be given considerable attention when performing differential diagnoses in patients with gastroesophageal varices.An integrated approach such as laboratory tests,radiological examination,and pathological biopsy,should be included to allow optimal decisions and management.
文摘Essential thrombocythemia with abdominal thrombotic is frequently associated complications including portal cavernoma as a consequence of chronic portal vein thrombosis. Essential thrombocythemia in a latent form is difficult to identify at onset due to the absence of an overt disease phenotype. In the presented case report, the diagnosis of essential thrombocythemia was initially missed because the typical disease phenotype was masked by bleeding and hypersplenism. The correct diagnosis was only reached when the patient experienced persistent thrombocytosis and pseudohyperkalemia after a shunt operation.
文摘BACKGROUND Hyperkalemia is one of the most common complications of chronic renal failure.Pseudohyperkalemia is caused by elevated levels of serum potassium in vitro and is usually accompanied by thrombocythemia.Although an elevated level of potassium is typically correlated with impaired renal function,pseudohyperkalemia has been rarely reported in patients with chronic renal failure.Here,we conducted a review of the literature to study the case of pseudohyperkalemia caused by the essential thrombocythemia in a patient with chronic renal failure.CASE SUMMARY A 73-year-old woman was admitted to our hospital with complaints of palpitation,dyspnea,and acratia for 2 d and a history of essential thrombocythemia for 1 year.The routine blood test showed platelet count of 1460×10^9/L,and biochemistry tests showed that the patient suffered from hyperkalemia(potassium:7.50 mmol/L)and renal failure(estimated glomerular filtration rate:8.88 mL/min).Initial treatment included medicines to lower her potassium-levels and hemodialysis.However,the therapy did not affect her serum potassium levels.Plasma potassium concentration measurements and a history of essential thrombocythemia established the diagnosis of pseudohyperkalemia.The treatments of the platelet disorder gradually normalized serum potassium levels;however,the treatments had to be discontinued later due to the severe leukopenia,and enhanced levels of serum potassium concentrations were observable in the patient.Since plasma sampling was not permitted,doctors had to use a diuretic just in case.Finally,the patient collapsed into unconsciousness and died due to multiple organ dysfunction and electrolyte disturbance.CONCLUSION We reviewed the literature and suggest that serum and plasma potassium values should both be measured for patients whose platelet counts exceed 500×10^9/L to eliminate chances of pseudohyperkalemia,especially for those with chronic renal failure.An inappropriate treatment for pseudohyperkalemia can aggravate a patient's condition.
文摘BACKGROUND We report a case of essential thrombocythemia(ET)in a 44-year-old male who exhibited non-ST-segment-elevation myocardial infarction(NSTEMI)as the first manifestation without known cardiovascular risk factors(CVRFs).For the first time,we reported a left main trifurcation lesion in NSTEMI caused by ET,including continuous stenosis lesions from the left main to the ostial left anterior descending(LAD)artery and an obvious thrombotic lesion in the ostial and proximal left circumflex(LCX)artery.There was 60%diffuse stenosis in the left main(LM)that extended to the ostial LAD,thrombosis of the ostial LAD and proximal LCX,and 90%stenosis in the proximal LCX.During the operation,thrombus aspiration was performed,but no obvious thrombus was aspirated.Performing the kissing balloon technique(KBT)in the LCX and LM unexpectedly increased the narrowness of the LAD.Then,the single-stent crossover technique,final kissing balloon technique and proximal optimization technique(POT)were performed.On the second day after percutaneous coronary intervention(PCI),the number of platelets(PLTs)still increased significantly to as high as 696×10^(9)/L.The bone marrow biopsy done later,together with JAK2(exon 14)V617F mutation,confirms the diagnosis of ET.Hydroxyurea was administered to inhibit bone marrow proliferation to control the number of PLTs.CASE SUMMARY A 44-year-old male patient went to a local hospital for treatment for intermittent chest pain occurring over 8 h.The examination at the local hospital revealed elevated cTnI and significantly elevated platelet.Then,he was diagnosed with acute myocardial infarction and transferred to our hospital for emergency interventional treatment by ambulance.During the operation,thrombus aspiration,the single-stent crossover technique,final kissing balloon technique and POT were performed.Dual antiplatelet therapy comprising aspirin and ticagrelor was used after PCI.Evidence of mutated JAK2 V617F and bone marrow biopsy shown the onset of ET.Together with JAK2(exon 14)V617F mutation,ET was diagnosed according to the World Health Organization(WHO)diagnostic criteria,and the patient was placed on hydroxyurea.During the one-year postoperative period,repeated examinations showed a slight increase in PLTs,but the patient no longer had chest tightness,chest pain or bleeding or developed new thromboembolisms.CONCLUSION Routine physical examinations and screenings are conducive to the early detection of ET,and the risk for thrombosis should be assessed.Then,active antiplatelet therapy and myelosuppression therapy should be used for high-risk ET patients.
文摘BACKGROUND Chest wall tuberculosis(TB)and triple-negative essential thrombocythemia(TNET)are rare medical conditions,and their combination is extremely rare globally.Only one case of TB peritonitis with thrombocytosis has been reported,which was identified in 1974.CASE SUMMARY Herein,we report the case of a 23-year-old man with concurrent chest wall mass and TN-ET.The patient presented to a local hospital due to having a headache and low-grade fever for 2 d,with their bodily temperature fluctuating at around 36.8°C.Hematological analysis showed a high platelet count of 1503×109/L.Subsequently,the patient visited our hospital for further investigation.Computed tomography of the chest suggested a submural soft tissue density shadow in the left lower chest wall.After surgical resection,the pathological findings of the swelling were reported as TB with massive caseous necrosis.According to the World Health Organization diagnostic criteria,the patient was diagnosed with TN-ET,as they met the requirement of four main criteria or the first three main criteria and one secondary criterion.The patient was eventually diagnosed with chest wall TB with TN-ET,which is extremely rare.CONCLUSION Chest wall TB is rare.TN-ET diagnosis requires secondary factor exclusion and satisfaction of primary diagnostic criteria.miRNA,combined with the methylation process,could explain suppressor of cytokine signaling(SOCS)1 and SOCS3 downregulation in ET-JAK2V617F-negative patients.The miRNA could participate in JAK2 pathway activation.SOCS3 may be a novel MPN biomarker.
基金supported by Guangdong Provincial Science and Technology Project(No.2013B031800024)
文摘INTRODUCTION Essential thrombocythemia （ET） belongs to a family of related disorders characterized by uncontrolled cell growth, named myeloprolifer- ative diseases （MPD）, including polycythemia- vera （PV） and primary myelofibrosis （PMF）. The presenting features of ET canrange from being asymptomatic to thrombohemorrhagic complications. Here, we report a case of ET accompanied by acute myocardium infraction （AMI） and gastrointestinal bleeding. The diag- nosis and treatment of ET will also be discussed.
基金Supported by National Natural Science Foundation of China,No.82370604Major Science and Technology innovation Project of Fujian Province,No.2023Y9269Natural Science Foundation of Fujian Province,China,No.2023J01239.
文摘BACKGROUND Hydroxyurea,an antimetabolite,is frequently prescribed for various hemato-logical disorders,and its common side effects include gastrointestinal problems,cutaneous or mucosal lesions and pyrexia/fever.CASE SUMMARY This study reports the case of a 67-year-old woman who developed recurrent abdominal pain after 10 years of continuous hydroxyurea therapy for primary thrombocythemia.Colonoscopy revealed an ileocecal ulcer.After discontinuing hydroxyurea therapy for 6 months,follow-up colonoscopy showed a significant reduction in the ulceration.CONCLUSION We consider cecal ulcers as a rare complication of hydroxyurea therapy which typically resolves upon stopping the drug.
