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Primary myelofibrosis with thrombophilia as first symptom combined with thalassemia and Gilbert syndrome:A case report

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World Journal of Clinical Cases 2022年第13期10卷 4161-4170页

作者： Guzailinuer Wufuer Kaisaer Wufuer Tu Ba Tao Cui Ling Tao Ling Fu Ming Mao Ming-Hui Duan Department of Hematology People's Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Thoracic Surgery The Eighth Affiliated Hospital of Xinjiang Medical UniversityUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Pathology People's Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Radiology People's Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Hematology Peking Union Medical College HospitalBeijing 100730China

BACKGROUND A 46-year-old Han man first had sigmoid sinus and transverse sinus venous thrombosis at the age of *** the age of 44,he once again developed *** testing showed heterozygous SERPINC1 mutation,bone marrow biopsy showed fibrosis grade 1(MF-1),and JAK2 V617F mutation was positive,accompanied by UGT1A1 mutation andβ-thalassemia gene *** SUMMARY A 46-year-old Han man was first found to have sigmoid sinus and transverse sinus venous thrombosis at the age of 42 but had no individual or family thrombosis history,and he had been regularly taking warfarin anticoagulant therapy for a long period of *** the age of 44,venous thrombosis reappeared in parts of the intrahepatic vein,main portal vein,splenic vein,and superior mesenteric vein,and his spleen was obviously *** had a history of jaundice for many years,and genetic testing revealed that he carried a heterozygous SERPINC1 *** marrow biopsy showed multifocal fibrous tissue hyperplasia among trabeculae and focal *** was positive for the JAK2 V617F *** the same time,UGT1A1 andβ-thalassemia gene mutations existed,and a SERPINC1 mutation and UGT1A1 mutation were both found in his *** The patient in this case had thrombophilia as the primary symptom,JAK2V617-positive myeloproliferative neoplasm(MPN)was the main potential cause,and hereditary AT-III deficiency may have been one of multiple secondary *** remains to be determined whether UGT1A1 andβ-thalassemia gene mutations are related to ***,the clinical features of MPN in this patient were hidden,and the relevant clinical features of coexisting thalassemia and hereditary Gilbert syndrome,reported here for the first time domestically and abroad,were complicating factors,causing great difficulties for a clear ***,when thrombophilia has been determined,it is necessary to screen the relevant latent problems *** the clinical features cannot be perfect

关键词： thrombophilia Prefibrotic myelofibrosis Negative family thrombosis history Case report

Prevention of thromboembolic events after radical prostatectomy in patients with hereditary thrombophilia due to a factor V Leiden mutation by multidisciplinary coagulation management

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Asian Journal of Urology 2024年第1期11卷 42-47页

作者： Randi M.Pose Sophie Knipper Jonas Ekrutt Mara Kölker Pierre Tennstedt Hans Heinzer Derya Tilki Florian Langer Markus Graefen Martini-Klinik Prostate Cancer Centre University Hospital Hamburg-EppendorfGermany Department of Urology University Hospital Hamburg-EppendorfGermany Department of Hematology and Oncology University Medical Centre Hamburg-EppendorfHamburgGermany

Objective:To examine the perioperative impact of factor V Leiden mutation on thromboembolic events'risk in radical prostatectomy(RP)*** an incidence of about 5%,factor V Leiden mutation is the most common hereditary hypercoagulability among Caucasians and rarer in *** increased risk of thromboembolic events is three-to seven-fold in heterozygous and to 80-fold in homozygous ***:Within our prospectively collected database,we analysed 33006 prostate cancer patients treated with RP between December 2001 and December *** those,patients with factor V Leiden mutation were *** patients received individualised recommendation of haemostaseologists for perioperative *** complications(deep vein thrombosis and pulmonary embolism)were assessed during hospital stay,as well as according to patient reported outcomes within the first 3 months after ***:Overall,85(0.3%)patients with known factor V Leiden mutation were *** age was 65(interquartile range:61-68)*** was at least one thrombosis in 53(62.4%)patients and 31(36.5%)patients had at least one embolic event in their medical history before *** all 85 patients with factor V Leiden mutation,we experienced no thromboembolic complications within the first 3 months after ***:In our cohort of patients with factor V Leiden mutation,no thromboembolic events were observed after RP with an individualised perioperative coagulation management *** may reassure patients with this hereditary condition who are counselled for RP.

关键词： Prostatecancer Prostatectomy Factor V Leiden mutation Thromboembolism thrombophilia

Inherited thrombophilia and Early Recurrent Pregnancy Loss among Egyptian Women

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Open Journal of Obstetrics and Gynecology 2015年第5期5卷 251-258页

作者： Omneya M. Osman Nelly N. Abulata Department of Obstetrics and Gynecology Kasr Al-Ainy Faculty of Medicine Cairo University Cairo Egypt Department of Clinical and Chemical Pathology Kasr Al-Ainy Faculty of Medicine Cairo University Cairo Egypt

Inherited thrombophilia has been implicated as a possible cause of recurrent pregnancy loss. Although numerous studies are available in literature, thrombophilia rate seems to vary fromstudy to another. The aim of our study was to determine the frequency of FII Prothrombin(G20210A), Factor V Leiden (G1691A), as well as methyl tetrahydrofolate reductase (MTHFR?C677T) polymorphisms, protein C, protein S and antithrombin III deficiency in a series of patients with unexplained RPL compared to control. Patients and Methods: 100 patients of unexplained RPL and 43 age-matched healthy controls were investigated for inherited thrombophilia. Results: MTHFR and Factor V Leiden were the commonest gene defects among cases studied (63%, 60% respectively) and control groups (41.9%, 41.9% respectively) (p = 0.019, p = 0.046 respectively). The least common deficiencies were protein S and protein C deficiency in cases (3%, 2% respectively) as well as in controls (1%, 0% respectively). 4 cases were homozygous for MTHFR and 2 cases homozygous for Factor V Leiden mutation. Odds ratio for MTHFR and Factor V mutation was 2.36 and 2.08 respectively (CI 95%). Combined defects were seen in cases and controls (p thrombophilia in cases of recurrent pregnancy loss.

关键词： thrombophilia Recurrent Pregnancy Loss Genetic Mutations MTHFR

Aspirin responsive platelet thrombophilia in essential thrombocythemia and polycythemia vera

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World Journal of Hematology 2013年第2期2卷 20-43页

作者： Jan Jacques Michiels Fibo WJ Ten Kate Peter J Koudstaal Perry JJ Van Genderen Department of Medicine Erasmus Medical Center Erasmus University Rotterdam 3015 GE RotterdamThe Netherlands Department of Hematology University Hospital Antwerp B-2650 Edgem Antwerp Belgium European Working Group on Myelopro-liferative Neoplasms Goodheart Institute and Foundation 3069 AT Rotterdam The Netherlands Department of Pathology Erasmus Medical Center Erasmus University Rotterdam 3015 GE Rotterdam The Netherlands Department of Neurology Erasmus Medical Center Rotterdam Erasmus University Rotterdam 3015 GE Rotterdam The Netherlands Department of Internal Medicine Haven Hospital 3011 TD RotterdamThe Netherlands Erasmus Medical Center Rotterdam3015 GE Rotterdam The Netherlands

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 shor

关键词： Erythromelalgia Migraine-like cerebral transient ischemic attacks Platelets β-thromboglobulin Thrombomoduline Thrombosis Aspirin Anticoagulation Arterial platelet thrombophilia Essential thrombocythemia Polycythemia vera

Arterial and Venous Thrombosis following Vaccination against COVID-19 with Astra-Zeneca Vaccine Revealing thrombophilia

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World Journal of Cardiovascular Diseases 2023年第4期13卷 198-204页

作者： Bah Mamadou Bassirou Doumbouya Amadou Dioulde Balde Mamadou Aliou Balde Thierno Hamidou Sylla Ibrahima Sory Balde Elhadj Yaya Kone Alpha Barry Ibrahima Sory Samoura Sana Beavogui Mariam Diakité Souleymane Balde Mamadou Dadhi Cardiology Department Ignace Deen Hospital Conakry Guinea Imaging Department Ignace Deen Hospital Conakry Guinea

Vaccination against COVID-19 is the most recognised means of containing the pandemic. Vaccines are not without side effects, particularly vascular thrombosis. But before blaming the vaccines, a thorough assessment of thrombotic risk factors is necessary. We report a case of arterial and venous thrombosis after vaccination with AstraZeneca revealing an exaggeration of factor VIII in a 37-year-old female patient. The angioscanner showed a venous thrombosis of the right subclavian, a pulmonary embolism and the presence of a thrombus in the aorta. The biology was in favour of a high level of factor VIII. The patient was treated with an antivitamin K, and the clinical evolution was favourable.

关键词： thrombophilia Thrombosis Vaccine AstraZeneca

Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient:A case report

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World Journal of Clinical Cases 2025年第10期13卷 35-39页

作者： Yan-Feng Wu Yan Huang Bao-Hui Weng Shan Deng Li-Ya Pan Zhen Li Department of Neurology Liuzhou Worker’s HospitalLiuzhou 545007Guangxi Zhuang Autonomous RegionChina Department of Neurology Tianjin Medical University General HospitalTianjin 300052China

BACKGROUND thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or *** thrombophilia may arise from various gene mutations,some of which have not even been adequately reported or poorly *** studies reported a rare and novel missense mutation in the prothrombin gene(***596Gln),known as prothrombin *** mechanisms and therapeutic strategies associated with prothrombin Belgrade mutation have not been fully *** SUMMARY We present the case of a 26-year-old woman with recurrent systemic thrombosis induced by prothrombin Belgrade *** patient suffered from cerebral venous sinus thrombosis that rapidly progressed to systemic thrombosis,alongside a family history of cerebral thrombosis,and no traditional risk factors or abnormal coagulation ***-genome sequencing detected a novel and rare heterozygous prothrombin missense mutation,c.1787G>T(***596Gln),which was responsible for the major etiology of the systemic *** This case strengthens our understanding about hereditary basis of thrombophilia and provokes considerations for therapeutic options on prothrombin Belgrade mutation.

关键词： Arg596Gln Belgrade mutation thrombophilia Prothrombin Case report

Changing spectrum of Budd-Chiari syndrome in India with special reference to non-surgical treatment

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World Journal of Gastroenterology 2008年第2期14卷 278-285页

作者： Deepak N Amarapurkar Sundeep J Punamiya Nikhil D Patel Department of Gastroenterology Bombay Hospital and Medical Research Centre Mumbai India Department of Interventional Radiology Bombay Hospital and Medical Research Centre Mumbai India

AIM： To evaluate patterns of obstruction, etiological spectrum and non-surgical treatment in patients with Budd-Chiari syndrome in India. METHODS： Forty-nine consecutive cases of Budd- Chiari syndrome （BCS） were prospectively evaluated. All patients with refractory ascites or deteriorating liver function were, depending on morphology of inferior vena cava （IVC） and/or hepatic vein （HV） obstruction, triaged for radiological intervention, in addition to anticoagulation therapy. Asymptomatic patients, patients with diuretic-responsive ascites and stable liver function, and patients unwilling for surgical intervention were treated symptomatically with anticoagulation. RESULTS： Mean duration of symptoms was 41.5 ± 11.2 （range = 1-240） too. HV thrombosis （HVT） was present in 29 （59.1%）, IVC thrombosis in eight （16.3%）, membranous obstruction of IVC in two （4%） and both IVC-HV thrombosis in 10 （20.4%） cases. Of 35 cases tested for hypercoagulability, 27 （77.1%） were positive for one or more hypercoagulable states. Radiological intervention was technically successful in 37/38 （97.3%）： IVC stenting in seven （18.9%）, IVC balloon angioplasty in two （5.4%）, combined IVC-HV stenting in two （5.4%）, HV stenting in 11 （29.7%）, transjugular intrahepatic portosystemic shunt （TIPS） in 13 （35.1%） and combined TIPS-IVC stenting in two （5.4%）. Complications encountered in follow-up： death in five, re-stenosis of the stent in five （17.1%）, hepatic encephalopathy in two and hepatocellular carcinoma in one patient. Of nine patients treated medically, two showed complete resolution of HVT. CONCLUSION： IN our series, HVT was the predominant cause of BCS. In the last five years with the availability of sophisticated tests for hypercoagulability, etiologies were defined in 85.7% of cases. Non-surgical management was successful in most cases.

关键词： Budd-Chiari syndrome Interventional radiology Ascites Hepatic vein thrombosis Percutaneoustransluminal angioplasty Stent Transjugular intrahepatic portosystemic shunt thrombophilia

Etiology and consequences of thrombosis in abdominal vessels

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World Journal of Gastroenterology 2006年第8期12卷 1165-1174页

作者： Yusuf Bayraktar Ozgur Harmanci Hacettepe University Faculty of Medicine Department of Gastroenterology06100 SihhiyeAnkaraTurkey

The thrombophilia which can be either congenital or acquired in adult life has major implications in the abdominal vessels. The resulting portal vein thrombosis, Budd-Chiari syndrome and mesenteric vein thrombosis have a variety of consequences ranging from acute abdomen to chronic hepatomegaly and even totally asymp- tomatic patient in whom the only finding is pancytopenia. The complications like esophageal varices, portal gastropathy, ascites, severe hypersplenism, liver failure requiring liver transplantation are well known. Interesting features of collateral venous circulation showing itself as pseudocholangiocarcinoma sign and its possible clinical reflection as cholestasis are also known from a long time. The management strategies for these complications of intraabdominal vessel thrombosis are not different from their counterpart which is cirrhotic portal hypertension, but the prognosis is unquestionably better in former cases. In this review we presented and discussed the abdominal venous thrombosis, etiology and the resulting clinical pictures. There are controversial issues both in nomenclature, and management including anticoagulation problems and follow up strategies. In light of the current knowledge, we discussed some controversial issues in literature and presented our experience and our proposals about this group of patients.

关键词： Portal vein thrombosis Pseudocholangiocarcinoma sign thrombophilia Budd-Chiari syndrome Mesenteric vein thrombosis

Recurrent thrombotic occlusion of a transjugular intrahepatic portosystemic stent-shunt due to activated protein C resistance

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World Journal of Gastroenterology 2005年第32期11卷 5064-5067页

作者： Elmar Siewert Jan Salzmann Edmund Purucker Karl Schürmann Siegfried Matern Department of Internal Medicine ⅢAachen University AachenGermany Department of Diagnostic RadiologyAachen University AachenGermany

The transjugular intrahepatic portosystemic stent-shunt (TIPS) has successfully been used in the management of refractory variceal bleeding and ascites in patients with portal hypertension. Major drawbacks are the induction of hepatic encephalopathy and shunt dysfunction. We present a 59-year-old woman with alcoholic liver cirrhosis who received a TIPS because of recurrent bleeding from esophageal varices. Stent occlusion occurred 4 mo after placement of the TIPS. Laboratory testing revealed resistance to activated protein C (APC). Combination therapy with low-dose enoxaparin and clopidogrel could not prevent her recurrent stent occlusion. Finally, therapy with high-dose enoxaparin was sufficient to prevent further shunt complications up to now (follow-up period of 1 year). In conclusion, early occlusion of a TIPS warrants testing for thrombophilia. If risk factors are confirmed,anticoagulation should be intensified. There are currently no evidence-based recommendations regarding the best available anticoagulant therapy and surveillance protocol for patients with TIPS.

关键词： Transjugular intrahepatic portosystemic stentshunt Resistance to activated protein C Factor V-Leiden thrombophilia Thrombosis