scholarly journals Pregnancy onset congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) mimicking HELLP syndrome: a case report

2021 ◽  
Vol 29 (3) ◽  
pp. 270-273
Author(s):  
Başak Ergin ◽  
Berna Buse Kobal ◽  
Zeynep Yazıcı ◽  
Ali Hakan Kaya ◽  
Sezin Canbek ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Hellp Syndrome ◽  
Epigastric Pain ◽  
Novel Mutation ◽  
Adamts13 Activity ◽  
Thrombotic Microangiopathies ◽  
Thrombocytopenic Purpura ◽  
Uremic Syndrome ◽  
Congenital Thrombotic Thrombocytopenic Purpura ◽  
Low Platelet Count

Objective Thrombotic thrombocytopenic purpura is a thrombotic microangiopathic condition characterized by hemolytic anemia, thrombocytopenia, neurologic abnormalities, fever and renal dysfunction. Thrombotic microangiopathies such as preeclampsia and HELLP syndrome are pregnancy-specific, whereas others such as thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome are not. In this report, we present a case at which we identified a novel mutation which led to a significant reduction of ADAMTS13 activity. Case(s) A nulliparous pregnant woman of 32-year-old presenting with epigastric pain, hypertension and low platelet count was first suspected of HELLP syndrome, but was diagnosed with congenital TTP after delivery. Conclusion HELLP syndrome co-existed with undiagnosed TTP in this case. We strive to have sufficient awareness in order to distinguish these two pathologies from each other on an antenatal basis, because the causes of the managements are entirely different.

von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome

Blood ◽  
2002 ◽  
Vol 100 (3) ◽  
pp. 778-785 ◽  
Author(s):  
Giuseppe Remuzzi ◽  
Miriam Galbusera ◽  
Marina Noris ◽  
Maria Teresa Canciani ◽  
Erica Daina ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Thrombotic Thrombocytopenic Purpura ◽  
Acute Phase ◽  
Von Willebrand Factor ◽  
Adamts13 Activity ◽  
Thrombocytopenic Purpura ◽  
Uremic Syndrome ◽  
Adamts13 Deficiency ◽  
Von Willebrand ◽  
Willebrand Factor

Abstract Whether measurement of ADAMTS13 activity may enable physicians to distinguish thrombotic thrombocytopenic purpura (TTP) from hemolytic uremic syndrome (HUS) is still a controversial issue. Our aim was to clarify whether patients with normal or deficient ADAMTS13 activity could be distinguished in terms of disease manifestations and multimeric patterns of plasma von Willebrand factor (VWF). ADAMTS13 activity, VWF antigen, and multimeric pattern were evaluated in patients with recurrent and familial TTP (n = 20) and HUS (n = 29). Results of the collagen-binding assay of ADAMTS13 activity were confirmed in selected samples by testing the capacity of plasma to cleave recombinant VWF A1-A2-A3. Most patients with TTP had complete or partial deficiency of ADAMTS13 activity during the acute phase, and in some the defect persisted at remission. However, complete ADAMTS13 deficiency was also found in 5 of 9 patients with HUS during the acute phase and in 5 patients during remission. HUS patients with ADAMTS13 deficiency could not be distinguished clinically from those with normal ADAMTS13. In a subgroup of patients with TTP or HUS, the ADAMTS13 defect was inherited, as documented by half-normal levels of ADAMTS13 in their asymptomatic parents, consistent with the heterozygous carrier state. In patients with TTP and HUS there was indirect evidence of increased VWF fragmentation, and this occurred also in patients with ADAMTS13 deficiency. In conclusion, deficient ADAMTS13 activity does not distinguish TTP from HUS, at least in the recurrent and familial forms, and it is not the only determinant of VWF abnormalities in these conditions.

scholarly journals Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy

2016 ◽  
Vol 91 (6) ◽  
pp. 644-646 ◽  
Author(s):  
Narendranath Epperla ◽  
Kathleen Hemauer ◽  
Kenneth D. Friedman ◽  
James N. George ◽  
Patrick Foy
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Novel Mutation ◽  
Thrombocytopenic Purpura ◽  
Congenital Thrombotic Thrombocytopenic Purpura

scholarly journals Diagnostic relevance of ADAMTS13 activity: Evaluation of 28 patients with thrombotic thrombocytopenic purpura - hemolytic uremic syndrome clinical diagnosis

2013 ◽  
Vol 141 (7-8) ◽  
pp. 466-474
Author(s):  
Dragica Vucelic ◽  
Danijela Mikovic ◽  
Zoran Rajic ◽  
Nebojsa Savic ◽  
Zivko Budisin ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Thrombotic Thrombocytopenic Purpura ◽  
Binding Activity ◽  
Adamts13 Activity ◽  
Activity Assay ◽  
Thrombocytopenic Purpura ◽  
Uremic Syndrome ◽  
Adamts13 Deficiency ◽  
A Disintegrin And Metalloproteinase ◽  
Thrombospondin Motif

Introduction. The significance of ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin motif-13) activity for diagnosis and therapy of thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS) is still a controversial issue. Objective. The aim of this report was to analyze the value of ADAMTS13 measurements in the diagnosis of TTP and HUS. Methods. At presentation, we analyzed patients with idiopathic TTP (n=18), secondary TTP (n=4), diarrhea positive HUS (n=3) and diarrhea negative HUS (n=3) treated in Belgrade, Serbia from 2004 to 2010. ADAMTS13 activity from acute phase samples was measured using the residual collagen binding activity assay at the Haemophilia and Thrombosis Centre, Milan, Italy. Results. There was a significant correlation between reduced ADAMTS13 activity and idiopathic TTP diagnosis (p=0.000) as well as between lower ADAMTS13 activities and higher reticulocytes (p=0.017) and lactate dehydrogenase levels (p=0.027). Significant correlation was also found between higher protease activity and diagnosis of HUS (p=0.000). There was a statistically significant correlation between higher ADAMTS13 activities and higher platelets count (p=0.002), blood urea nitrogen (p=0.000), and creatinine level (p=0.000). Conclusion. Severe ADAMTS13 deficiency points at the diagnosis of idiopathic TTP and it is present in the secondary TTP but not in HUS.

scholarly journals Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura

Blood ◽  
2012 ◽  
Vol 120 (2) ◽  
pp. 440-448 ◽  
Author(s):  
Luca A. Lotta ◽  
Haifeng M. Wu ◽  
Ian J. Mackie ◽  
Marina Noris ◽  
Agnes Veyradier ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Limit Of Detection ◽  
Clinical Phenotype ◽  
Characteristic Curve ◽  
Activity Levels ◽  
Dependent Manner ◽  
Adamts13 Activity ◽  
Thrombocytopenic Purpura ◽  
Plasma Infusion ◽  
Congenital Thrombotic Thrombocytopenic Purpura

Abstract The quantification of residual plasmatic ADAMTS13 activity in congenital thrombotic thrombocytopenic purpura (TTP) patients is constrained by limitations in sensitivity and reproducibility of commonly used assays at low levels of ADAMTS13 activity, blunting efforts to establish genotype-phenotype correlations. In the present study, the residual plasmatic activity of ADAMTS13 was measured centrally by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (limit of detection = 0.5%) in 29 congenital TTP patients. The results were used to study correlations among ADAMTS13 genotype, residual plasmatic activity, and clinical phenotype severity. An ADAMTS13 activity above 0.5% was measured in 26 (90%) patients and lower levels of activity were associated with earlier age at first TTP episode requiring plasma infusion, more frequent recurrences, and prescription of fresh-frozen plasma prophylaxis. Receiver operating characteristic curve analysis showed that activity levels of less than 2.74% and 1.61% were discriminative of age at first TTP episode requiring plasma infusion < 18 years, annual rate of TTP episodes > 1, and use of prophylaxis. Mutations affecting the highly conserved N-terminal domains of the protein were associated with lower residual ADAMTS13 activity and a more severe phenotype in an allelic-dose dependent manner. The results of the present study show that residual ADAMTS13 activity is associated with the severity of clinical phenotype in congenital TTP and provide insights into genotype-phenotype correlations.

scholarly journals Etiology and Outcomes of Thrombotic Microangiopathies

2019 ◽  
Vol 14 (4) ◽  
pp. 557-566 ◽  
Author(s):  
Guillaume Bayer ◽  
Florent von Tokarski ◽  
Benjamin Thoreau ◽  
Adeline Bauvois ◽  
Christelle Barbet ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Thrombotic Microangiopathy ◽  
Cardiovascular Events ◽  
Cardiac Complications ◽  
Neurologic Complications ◽  
Thrombotic Microangiopathies ◽  
Thrombocytopenic Purpura ◽  
Coronary Syndrome ◽  
Major Cardiovascular Events ◽  
Uremic Syndrome

Background and objectivesThrombotic microangiopathies constitute a diagnostic and therapeutic challenge. Secondary thrombotic microangiopathies are less characterized than primary thrombotic microangiopathies (thrombotic thrombocytopenic purpura and atypical hemolytic and uremic syndrome). The relative frequencies and outcomes of secondary and primary thrombotic microangiopathies are unknown.Design, setting, participants, & measurementsWe conducted a retrospective study in a four-hospital institution in 564 consecutive patients with adjudicated thrombotic microangiopathies during the 2009–2016 period. We estimated the incidence of primary and secondary thrombotic microangiopathies, thrombotic microangiopathy causes, and major outcomes during hospitalization (death, dialysis, major cardiovascular events [acute coronary syndrome and/or acute heart failure], and neurologic complications [stroke, cognitive impairment, or epilepsy]).ResultsWe identified primary thrombotic microangiopathies in 33 of 564 patients (6%; thrombotic thrombocytopenic purpura: 18 of 564 [3%]; atypical hemolytic and uremic syndrome: 18 of 564 [3%]). Secondary thrombotic microangiopathies were found in 531 of 564 patients (94%). A cause was identified in 500 of 564 (94%): pregnancy (35%; 11 of 1000 pregnancies), malignancies (19%), infections (33%), drugs (26%), transplantations (17%), autoimmune diseases (9%), shiga toxin due to Escherichia coli (6%), and malignant hypertension (4%). In the 31 of 531 patients (6%) with other secondary thrombotic microangiopathies, 23% of patients had sickle cell disease, 10% had glucose-6-phosphate dehydrogenase deficiency, and 44% had folate deficiency. Multiple causes of thrombotic microangiopathies were more frequent in secondary than primary thrombotic microangiopathies (57% versus 19%; P<0.001), and they were mostly infections, drugs, transplantation, and malignancies. Significant differences in clinical and biologic differences were observed among thrombotic microangiopathy causes. During the hospitalization, 84 of 564 patients (15%) were treated with dialysis, 64 of 564 patients (11%) experienced major cardiovascular events, and 25 of 564 patients (4%) had neurologic complications; 58 of 564 patients (10%) died, but the rates of complications and death varied widely by the cause of thrombotic microangiopathies.ConclusionsSecondary thrombotic microangiopathies represent the majority of thrombotic microangiopathies. Multiple thrombotic microangiopathies causes are present in one half of secondary thrombotic microangiopathies. The risks of dialysis, neurologic and cardiac complications, and death vary by the cause of thrombotic microangiopathies.

Is factor V Leiden a risk factor for thrombotic microangiopathies without severe ADAMTS13 deficiency?

2005 ◽  
Vol 94 (12) ◽  
pp. 1186-1189 ◽  
Author(s):  
Soraya Krieg ◽  
Jan-Dirk Studt ◽  
Irmela Sulzer ◽  
Bernhard Lämmle ◽  
Johanna A. Kremer Hovinga
Keyword(s):  
Risk Factor ◽  
Case Series ◽  
Factor V Leiden ◽  
Factor V ◽  
Adamts13 Activity ◽  
Thrombotic Microangiopathies ◽  
Thrombocytopenic Purpura ◽  
Uremic Syndrome ◽  
Adamts13 Deficiency

SummaryAbout 60% of patients diagnosed with acute thrombotic thrombocytopenic purpura (TTP) display a severe ADAMTS13 deficiency. Recently, Raife et al. concluded from a small case series, that factor V Leiden (FVL) might constitute a risk factor for acute thrombotic microangiopathy (TMA) without severe ADAMTS13 deficiency. Therefore, we determined ADAMTS13 activity and FVL carrier-ship in 256 consecutive patients presenting with various forms of acute TMA, including patients diagnosed with TTP or hemolytic-uremic syndrome (HUS). The overall prevalence of FVL was 8.2% (6.25% among patients diagnosed with TTP, and 9% among those with HUS) concordant with the FVL prevalence reported in Europe. FVL was present in 9.9% of patients with ADAMTS13 activity <10% and in 9.7% of those with normal ADAMTS13 activity (>50%). We conclude that FVL is not more prevalent inTMA patients without as compared to those with severe ADAMTS13 deficiency. The prevalence of FVL carriers in certain HUS subgroups (HUS with ADAMTS13 activity >50%) reaching 12.3% suggests that a contributory role of FVL in the pathogenesis of defined forms of HUS needs further study.

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