scholarly journals From Budd-Chiari syndrome to acquired von Willebrand syndrome: thrombosis and bleeding complications in the myeloproliferative neoplasms

Blood ◽  
2019 ◽  
Vol 134 (22) ◽  
pp. 1902-1911 ◽  
Author(s):  
Brady L. Stein ◽  
Karlyn Martin
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Bleeding Complications ◽  
Budd Chiari Syndrome ◽  
Acquired Von Willebrand Syndrome ◽  
Chiari Syndrome ◽  
Appropriate Therapy ◽  
Von Willebrand

Stein and Martin provide a review of the thrombotic and bleeding complications of myeloproliferative neoplasms and provide a roadmap for appropriate therapy.

Bleeding complications after arthroscopy in a JAK2V617F-positive patient with essential thrombocythemia and acquired von Willebrand syndrome (AVWS)

2014 ◽  
Vol 101 (4) ◽  
pp. 405-410 ◽  
Author(s):  
Joanna Rupa-Matysek ◽  
Krzysztof Lewandowski ◽  
Maria Lewandowska ◽  
Ewelina Wojtasińska ◽  
Marzena Liliana Wojtaszewska ◽  
...  
Keyword(s):  
Essential Thrombocythemia ◽  
Positive Patient ◽  
Bleeding Complications ◽  
Acquired Von Willebrand Syndrome ◽  
Von Willebrand

Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis

Blood ◽  
2012 ◽  
Vol 120 (25) ◽  
pp. 4921-4928 ◽  
Author(s):  
Jasper H. Smalberg ◽  
Lidia R. Arends ◽  
Dominique C. Valla ◽  
Jean-Jacques Kiladjian ◽  
Harry L. A. Janssen ◽  
...  
Keyword(s):  
Portal Vein ◽  
Portal Vein Thrombosis ◽  
Myeloproliferative Neoplasms ◽  
Meta Analysis ◽  
Random Effects Model ◽  
Budd Chiari Syndrome ◽  
Vein Thrombosis ◽  
High Prevalence ◽  
Diagnostic Role ◽  
Chiari Syndrome

Abstract Myeloproliferative neoplasms (MPNs) are the most common cause of Budd-Chiari syndrome (BCS) and nonmalignant, noncirrhotic portal vein thrombosis (PVT). In this meta-analysis, we determined the prevalence of MPNs and their subtypes as well as JAK2V617F and its diagnostic role in these uncommon disorders. MEDLINE and EMBASE databases were searched. Prevalence of MPNs, JAK2V617F, and MPN subtypes were calculated using a random-effects model. A total of 1062 BCS and 855 PVT patients were included. In BCS, mean prevalence of MPNs and JAK2V617F was 40.9% (95% CI, 32.9%-49.5%) and 41.1% (95% CI, 32.3%-50.6%), respectively. In PVT, mean prevalence of MPNs and JAK2V617F was 31.5% (95% CI, 25.1%-38.8%) and 27.7% (95% CI, 20.8%-35.8%), respectively. JAK2V617F and MPNs were more frequent in BCS compared with PVT (P = .03 and P = .09, respectively). Polycythemia vera was more prevalent in BCS than in PVT (P = .001). JAK2V617F screening in splanchnic vein thrombosis (SVT) patients without typical hematologic MPN features identified MPN in 17.1% and 15.4% of screened BCS and PVT patients, respectively. These results demonstrate a high prevalence of MPNs and JAK2V617F in SVT patients and show differences in underlying etiology between these disorders. Furthermore, these results validate routine inclusion of JAK2V617F in the diagnostic workup of SVT patients.

Long-term outcome of liver transplant patients with Budd-Chiari syndrome secondary to myeloproliferative neoplasms

2015 ◽  
Vol 35 (8) ◽  
pp. 2042-2049 ◽  
Author(s):  
Andrej Potthoff ◽  
Dina Attia ◽  
Sven Pischke ◽  
Ingmar Mederacke ◽  
Gernot Beutel ◽  
...  
Keyword(s):  
Liver Transplant ◽  
Myeloproliferative Neoplasms ◽  
Budd Chiari Syndrome ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Transplant Patients ◽  
Chiari Syndrome

scholarly journals Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Peijin Zhang ◽  
Yanyan Zhang ◽  
Jing Zhang ◽  
Hui Wang ◽  
He Ma ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Recessive Model ◽  
Elevated Risk ◽  
Budd Chiari Syndrome ◽  
Candidate Locus ◽  
Susceptibility Factor ◽  
Chiari Syndrome

Myeloproliferative neoplasms (MPNs) are the leading cause of Budd-Chiari syndrome (BCS), and the C allele of JAK2 rs4495487 was reported to be an additional candidate locus that contributed to MPNs. In the present study, we examined the role of JAK2 rs4495487 in the etiology and clinical presentation of Chinese BCS patients. 300 primary BCS patients and 311 healthy controls were enrolled to evaluate the association between JAK2 rs4495487 polymorphism and risk of BCS. All subjects were detected for JAK2 rs4495487 by real-time PCR.Results. The JAK2 rs4495487 polymorphism was associated with JAK2 V617F-positive BCS patients compared with controls (P<0.01). The CC genotype increased the risk of BCS in patients with JAK2 V617F mutation compared with individuals presenting TT genotype (OR = 13.60, 95% CI = 2.04–90.79) and non-CC genotype (OR = 12.00, 95% CI = 2.07–69.52). We also observed a significantly elevated risk of combined-type BCS associated with CC genotype in the recessive model (OR = 4.44, 95% CI = 1.31–15.12). This study provides statistical evidence that the JAK2 rs4495487 polymorphism is susceptibility factor JAK2 V617F positive BCS and combined BCS in China. Further larger studies are required to confirm these findings.

Bleeding Complications in Patients With Budd-Chiari Syndrome on Anticoagulation

2017 ◽  
Vol 7 ◽  
pp. S99 ◽  
Author(s):  
Abhinav Jain ◽  
Chirag Shah ◽  
Pratin Bhatt ◽  
Megha Meshram ◽  
Shobna Bhatia ◽  
...  
Keyword(s):  
Bleeding Complications ◽  
Budd Chiari Syndrome ◽  
Chiari Syndrome

Polycythemia vera-geïnduceerd syndroom van Budd-Chiari bij een oudere patiënte

2021 ◽  
Author(s):  
S. VAN DESSEL ◽  
W. LALEMAN ◽  
E. GIELEN
Keyword(s):  
Polycythemia Vera ◽  
Myeloproliferative Neoplasms ◽  
Laboratory Data ◽  
Jak2 V617f ◽  
Budd Chiari Syndrome ◽  
Older Patient ◽  
Aged Patients ◽  
Chiari Syndrome ◽  
Hepatic Venous Outflow ◽  
Venous Outflow Obstruction

Polycythemia vera-induced Budd-Chiari syndrome in an older patient The case of a 94-year-old patient with subacute Budd-Chiari syndrome (BCS) caused by a novel diagnosis of polycythemia vera (PV) is reported. BCS is mostly seen in young or middle-aged patients. The presentation in a nonagenarian is rare, making this case exceptional. BCS is defined by a hepatic venous outflow obstruction. Its clinical presentation is variable from fulminant liver failure to an insidious form with symptoms of cirrhosis at the time of the diagnosis. In western countries, primary BCS is mainly seen, which is caused by an endoluminal lesion. A hypercoagulable state provoked by myeloproliferative neoplasms (MPN) is mostly responsible. The patient presented with abdominal distention and anorexia since two months. Physical examination revealed hepatomegaly and ascites. Laboratory data indicated polycythemia and cholestasis. The CT scan of the abdomen was diagnostic for subacute BCS. A JAK2-V617F mutation was found. The therapy consisted of anticoagulation, low-dose acetylsalicylic acid, phlebotomies and supportive care with diuretics and paracentesis.

Spectrum Of The Acquired Von Willebrand Syndrome In a Large Cohort Of Patients Diagnosed In a Single Institution

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 3607-3607 ◽  
Author(s):  
Ulrich Budde ◽  
Rita Dittmer ◽  
Hala El- Abd Müller ◽  
Hanna Schaeper ◽  
Sonja Schneppenheim
Keyword(s):  
Cardiovascular Diseases ◽  
Left Ventricular ◽  
Ventricular Assist Devices ◽  
Bleeding Complications ◽  
Relative Reduction ◽  
Left Ventricular Assist Devices ◽  
Acquired Von Willebrand Syndrome ◽  
Underlying Diseases ◽  
Von Willebrand

Abstract The first description of an apparently acquired form of von Willebrand disease dates back to 1968 in patients with systemic lupus erythematosus. To differentiate between the congenital and acquired forms, the term acquired von Willebrand syndrome (aVWS) is now accepted for these patients. It turned out that there are three predominant underlying diseases that lead to an aVWS in a subset or even in almost all affected patients. More than 9.000 samples reach our laboratory yearly for diagnosis, confirming or (sub-) classification of a possible VWD. In about 15% of these the diagnosis VWD can be confirmed and 30% of these patients suffer from an apparently acquired form. Here we describe our experience in diagnosing aVWS patients over more than 9 years (January 2004 – February 2013). The largest group are patients with cardiovascular diseases (483 = 40%). Since our first patients in 2005, the leading group are patients on non-pulsative left ventricular assist devices (LVADs) with still markedly increasing numbers. Aortic stenosis was the reason for aVWS in 139 patients, usually with less severe symptoms compared to patients on LVAD´s. In 67 patients the underlying diseases were congenital heart diseases. Miscellaneous cardiac defects were causative in 29 patients. Only nine patients were on an extracorporal membrane oxygenator. But all of them suffered from severe bleeding complications with a high mortality (five out of nine). The VWF:Ag was higher than normal (>160%) in all patient groups with the exception of the congenital cases. It seems to be influenced by the highth of the shear stress and the age of the patients. The mean VWF:CB was significantly lower compared to the VWF:Ag. Therefore the ratio between VWF:CB and VWF:Ag was low in all groups, but although our lower limit of a “normal” ratio is higher than usual (0.8), the sensitivity towards a loss of the large multimers is low with 60% in all groups. Thus without using multimer analysis as a first line diagnostic test, in a big part of patients with cardiovascular diseases, the aVWS will be overseen. The acquired VWS in patients with thrombocythemia and the pathophysiology was described in 1984 and 1986. In our 362 patients (30% of the whole group), the large multimers nearly always show an absolute or relative reduction. An aVWS with a phenotype similar to inherited VWD1 is rarely seen. Whether a given patient suffers from thromboembolism or bleedings is strongly dependent from the platelet count. Most patients investigated were not actively bleeding but were tested to confirm the diagnosis or to plan for the best treatment in case of surgery or trauma. The ratio between VWF:CB and VWF:Ag was low in these patients. The sensitivity towards a loss of the large multimers is somewhat better than in cardiovascular cases, but does not exceed 80%. Lymphoproliferative diseases as the underlying disorder associated with aVWS account for a significant portion of patients. We observed 243 patients between January 2004 and February 2013 (20% of the whole group). Typically in cases with a monoclonal IgG (201 patients) there is a relative decrease of the large multimers together with severely decreased or absent proteolytic bands. This is due to the preferential removal of the large multimers together with a too short time left for ADAMTS13 to cleave the molecule. In contrast, the majority of patients with monoclonal gammopathy of the IgM type had aVWS similar to inherited VWD type 1. They show an unmistakable multimeric pattern. This multimeric pattern can be explained by the giant VWF-IgM complexes which destroy the agarose during their passage through the gel and sometimes even leave holes. A brief inspection of the gels is thus sufficient for making correct diagnosis. In 114 patiens (9% of the whole group), the mechanism leading to an enhanced clearance (type 1) or destruction of the VWF structure (type 2) is unknown. Disclosures: No relevant conflicts of interest to declare.

The Acquired Von Willebrand Syndrome in Patients with Monoclonal IgA Proteins Is Rare but May be Clinically Severe

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2830-2830
Author(s):  
Ulrich Budde ◽  
Rita Dittmer ◽  
Sonja Schneppenheim ◽  
Tina Rausch
Keyword(s):  
Conflicts Of Interest ◽  
Lymphoproliferative Disorders ◽  
Von Willebrand Disease ◽  
Bleeding Complications ◽  
Severe Bleeding ◽  
Iliac Crest Biopsy ◽  
Acquired Von Willebrand Syndrome ◽  
Large Patient ◽  
Diagnostic Panel ◽  
Von Willebrand

Abstract During the last 10 years our laboratory diagnosed and typed 5585 different patients with inherited von Willebrand disease (VWS) and acquired von Willebrand syndrome (aVWS). Out of these 21% (1217) suffered from aVWS. With 252 patients lymphoproliferative disorders were number three in frequency (21%) after cardiovascular (43%) and myeloproliferative (27%) disorders. Out of the patients with lymphoproliferative disorders patients with a monoclonal IgA protein comprised only 3.6% (9 patients). Much more abundant were monoclonal IgG´s (71%) and IgM´s (26%). According to our data only one patient was classified as MGUS and the others suffered from myeloma. The most impressive property was the heterogeneity of their laboratory and clinical data with the exception that all patients suffered from severe bleeding complications whenever their hemostatic system was challenged by accidents or invasive procedures (even iliac crest biopsy). The VWF:Ag ranged from 0.06 – 5.60 IU/ml and only one patient had a VWF:Ag <0.5 IU/dl. The functional test (VWF:CB) ranged from 0.06 and 5.48 IU/ml again with only one patient <0.5 IU/dl. The ratio VWF:CB / VWF:Ag was below 0.8 in three patients. Thus more than 50% of the patients would remain undetected if the VWF multimers were not included in the diagnostic panel. Two patients displayed the whole set of multimers, while the others showed a mild (5) or severe (2) absence of the large multimers. The hallmark of the multimic pattern from patients with an IgA monoclonal protein was the presence of a lot of smeary material within the electrophoretic lanes diplayed in all patients. In summary aVWS in the course of lymphoproliferative disorders and monoclonal IgA proteins is clinically severe, although probably not life threatening. It remains undetected with standard VWF tests and might be therefore not as rare as detected in our large patient panel. Disclosures No relevant conflicts of interest to declare.

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