One Case of Primary Thrombocythemia with Concealed Hypokalemia Complicated by Acute Myocardial Infarction

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 × 109/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.

IgG4-related sclerosing cholangitis associated with essential thrombocythemia:A case report

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.

JAK2、CALR、MPL共表达原发性血小板增多症1例并文献复习

目的探讨1例CALR、JAK2及MPL 3个驱动基因突变阳性的原发性血小板增多症(ET)病人的临床及实验室特征,以提示临床医生在本病的诊断过程中对相关驱动基因突变进行更为精确的检测。方法2022年2月17日收集临沂市中心医院原发性血小板增多症病人骨髓液送检济南金域医学检验中心,采用二代测序技术检测本例ET病人的JAK2、CALR和MPL基因突变,并结合文献分析JAK2、CALR、MPL 3个驱动基因突变均表达的临床及实验室特征。结果病人检测到JAK2、CALR及MPL 3个驱动基因突变阳性,表现为血小板增高、红细胞计数和血红蛋白正常。结论为了进一步提高对ET乃至骨髓增殖性肿瘤的认识,需要在诊断过程中尽可能使用更为精确的二代测序对其基因突变进行检测。

Hydroxyurea-related ileocecal region ulcers as a rare complication:A case report

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.

Coronary spasm-related acute myocardial infarction in a patient with essential thrombocythemia

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.

Myeloproliferative and thrombotic burden and treatment outcome of thrombocythemia and polycythemia patients

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.

Risk of second primary malignancies in a population-based study of adult patients with essential thrombocythemia

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.

Aspirin responsive platelet thrombophilia in essential thrombocythemia and polycythemia vera

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.

Gastroesophageal varices in a patient presenting with essential thrombocythemia:A case report

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.

Leukocytosis at Diagnosis in Patients with Essential Thrombocythemia Is a Risk Factor for Transformation into Myelofibrosis

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.

A latent form of essential thrombocythemia presenting as portal cavernoma

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.

Pseudohyperkalemia caused by essential thrombocythemia in a patient with chronic renal failure: A case report

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.

Essential thrombocythemia with non-ST-segment elevation myocardial infarction as the first manifestation:A case report

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.

Individual with concurrent chest wall tuberculosis and triplenegative essential thrombocythemia:A case report

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.

骨髓形态学对早期原发性骨髓纤维化与原发性血小板增多症的诊断价值

目的探讨骨髓巨核细胞病理特征、临床特征及基因突变在早期原发性骨髓纤维化(pre-PMF)及原发性血小板增多症(ET)鉴别诊断中的价值。方法收集2010年1月至2020年12月68例既往根据2008版世界卫生组织(WHO)骨髓增生性肿瘤(MPN)诊断标准初诊为原发性骨髓纤维化(PMF)及ET的患者,依据2016年版WHO诊断标准对患者骨髓活检组织切片进行重新评估,并收集其实验室检查、临床特征、诊断分型及基因突变检测等结果进行统计分析。结果依据更新诊断标准重新分型后,ET患者23例,PMF患者45例,其中pre-PMF 22例(占PMF的49%),明显期原发性骨髓纤维化(overt-PMF)23例(占PMF的51%)。男性35例(51%)、女性33例(49%),年龄≥65岁患者24例(35%),白细胞增多35例(51%),贫血17例(25%),血小板降低10例(15%),脾肿大25例(37%)。pre-PMF组Ⅰ型、Ⅱ型、Ⅲ型、Ⅴ型巨核细胞百分比均高于ET组(P均<0.01),ET组Ⅳ型巨核细胞百分比高于pre-PMF组(P<0.01)。ET、pre-PMF和overt-PMF组的JAK2V617F、CALR、MPL驱动基因突变差异均无统计学意义(P>0.05)。结论ET和pre-PMF患者骨髓巨核细胞病理改变不同,结合JAK2V617F、CALR、MPL驱动基因突变及纤维增生分级及临床特征对于pre-PMF和ET具有鉴别诊断价值。

JAK2V617F突变性原发性血小板增多症并缺血性卒中10例临床特征分析

目的分析JAK2V617F突变性原发性血小板增多症(ET)并缺血性卒中的临床特征。方法回顾性分析2013年7月至2021年5月福建省立医院收治的7例及武平县医院收治的3例JAK2V617F突变性ET合并缺血性卒中患者的临床资料,分析患者临床特征(临床表现、实验室检测、骨髓细胞学)、影像学及治疗转归情况。结果10例JAK2V617F突变性ET合并缺血性卒中患者中,多发性脑梗死7例,单发性脑梗死2例,短暂性脑缺血发作1例。MRI显示3例患者病灶存在出血转化。9例脑梗死患者行血管评估,7例存在大动脉中重度狭窄或者闭塞。1例超急性期就诊者给予阿替普酶静脉溶栓后症状好转。二级预防:6例使用抗血小板、联合骨髓增生抑制剂,病情改善;3例起初仅用抗血小板治疗,病情反复,加用羟基脲治疗后2例病情改善。结论JAK2V617F突变性ET常引起大动脉粥样硬化狭窄性、多发性脑梗死且病灶较易出血,在抗血小板的基础上加用骨髓增生抑制剂可能有利于预防病情复发。

原发性血小板增多症患者中JAK2、CALR及三阴性驱动突变的临床特征比较

目的:探讨原发性血小板增多症(ET)患者的突变基因与临床特征的关系。方法:对2018年10月至2022年3月69例ET患者的临床资料进行回顾性分析。将患者按突变的驱动基因类型分为JAK2组、CALR组与三阴性组,对3组患者的性别、年龄、心血管危险因素、血栓、脾肿大、血常规、凝血状态进行分析。结果:69例ET患者中,46例伴随JAK2基因突变,14例伴随CALR基因突变,8例为三阴性,1例伴随MPL基因突变。3组患者的年龄、性别无显著差异(P>0.05)。JAK2组血栓率最高,为26.09%(12/46),三阴性组为12.5%(1/8),CALR组无血栓事件。JAK2组伴随脾肿大发生率最高,为34.78%(16/46),而三阴性组无脾肿大发生。JAK2组的白细胞数为(9.00±4.86)×10^(9)/L,显著高于CALR组的(6.03±2.32)×10^(9)/L(P<0.05)。JAK2组的血红蛋白含量为(148.43±18.79)g/L,显著高于三阴性组的(131.00±15.17)g/L(P<0.05)。JAK2组的红细胞压积为(0.44±0.06)%,亦显著高于三阴性组的(0.39±0.05)%(P<0.05)。JAK2组血小板数为(584.17±175.77)×10^(9)/L,显著低于CALR组的(703.07±225.60)×10^(9)/L(P<0.05)。JAK2组和三阴性组纤维蛋白原含量分别为(2.64±0.69)g/L和(3.05±0.77)g/L,均显著高于CALR组的(2.24±0.47)g/L(P<0.05,P<0.01)。三阴性组活化部分凝血活酶时间为(28.61±1.99)s,较CALR组的(31.45±3.35)s显著降低(P<0.05)。结论:不同驱动基因突变ET患者的血细胞计数与凝血状态存在差异。与CALR组相比,JAK2组血栓率、白细胞数和纤维蛋白原含量均显著升高,而血小板数显著降低;与三阴性组相比,JAK2组脾大发生率和红细胞压积显著升高;与CALR组相比,三阴性组的纤维蛋白原含量显著升高、活化部分凝血活酶时间显著降低。

应用仲景下瘀血法治疗原发性血小板增多症探讨

原发性血小板增多症的病理机制主要是骨髓中巨核细胞过度增殖,导致血小板计数升高,进而积聚成瘀。对于瘀血导致的疾病,医圣张仲景应用下瘀血法进行治疗,本文对仲景所创下瘀血诸方进行辨析,总结方剂各自的组方用药特点、临床应用指征,联系到原发性血小板增多症的治疗中,从疾病分期以及不同证候灵活运用下瘀血法,为现代中医治疗原发性血小板增多症提供些许思路。

龙柴降血方对原发性血小板增多症患者凝血功能及血小板活化蛋白的影响

目的观察龙柴降血方对原发性血小板增多症(ET)患者凝血功能及血小板活化蛋白的影响。方法选取2020年1月—2021年10月中国中医科学院西苑医院收治的ET患者22例,给予龙柴降血方治疗4个月,观察治疗前后血栓弹力图指标[凝血时间(R)、凝血速率(K)、纤维蛋白功能(Angle)、血栓最大振幅(MA)、血栓最大振幅时间(TMA)、即时振幅(A)、30 min振幅(A30)、从血样开始检测到曲线分叉所需时间(SP)、血凝块溶解时间(CLT)]、高凝状态发生率和积分变化。选取其中15例ET患者,采用平行反应监测(PRM)技术检测患者治疗前后血小板活化蛋白[血小板膜糖蛋白Ibα(GPIbα)、糖蛋白VI(GPVI)、选择素-P(SELP)]表达水平,分析比较血小板聚集改善患者和血小板聚集增强患者上述各蛋白表达水平的差异;取5例健康者和10例ET患者治疗前后血清,采用Western blot法检测血清GPIbα表达情况;分析15例ET患者MA与血清GPIbα表达水平的相关性。结果与治疗前比较,龙柴降血方治疗后MA、CLT、高凝状态发生率、高凝状态积分和血清GPIbα、GPVI表达水平均明显降低(P均<0.05),血清SELP表达水平无明显变化(P>0.05)。治疗后血小板聚集改善患者血清GPIbα表达水平明显低于血小板聚集增强患者(P<0.05),GPVI表达水平无明显变化(P>0.05)。与健康人相比,10例ET患者治疗前血清GPIbα相对表达量明显增高(P<0.05);10例ET患者治疗后血清GPIbα相对表达量较治疗前明显降低(P<0.05)。龙柴降血方治疗后MA下降与GPIbα表达下调呈正相关(r=0.6986,P<0.05)。结论龙柴降血方能够抑制ET患者血小板聚集,改善高凝状态,其机制可能与抑制GPIbα蛋白介导的血小板活化信号通路有关。

27例原发性血小板增多症骨髓的临床病理分析

目的探讨原发性血小板增多症(ET)骨髓病理特征、免疫表型、诊断及鉴别诊断。方法回顾性分析北京海思特医学检验实验室收检的27例ET患者的骨髓活检、网银染色、免疫组织化学、血清EPO、分子检测JAK2 V617F突变、CALR 9号外显子突变、MPL 10号外显子突变及BCR/ABL1融合基因检测结果。结果男15例,女12例。27例骨髓活检造血组织容量在35VOL%~80VOL%之间,92.6%(25/27)表现为巨核细胞大而多,散在分布,胞质丰富而成熟,核呈深分叶或过度分叶,疏松的集簇少见,网银染色MF⁃0级。7.4%(2/27)表现为骨髓广泛纤维化,巨核细胞大而多,网银染色MF⁃2级,属于ET后期骨髓纤维化(Post⁃ET myelofibrosis,Post⁃ET MF)。免疫组织化学证实粒系、红系及巨核三系分布情况,分子检测JAK2 V617F突变、CALR 9号外显子及MPL 10号外显子突变,92.6%(25/27)突变阳性。结论ET易与Pre⁃PMF、CML及PV多血前期混淆,诊断需结合临床表现、病理组织学特点、免疫组化及相关基因检测综合诊断。