Severe Thrombocytopenia and Platelet Granule Dysfunction Associated with the Combination of Novel Heterozygous Variants in TUBB1 and ITGB3

2019 ◽  
Author(s):  
D. Pillitteri ◽  
S. Sollfrank ◽  
K. Althaus ◽  
S. Heine ◽  
K. Lackner ◽  
...  
2009 ◽  
Vol 37 (05) ◽  
pp. 314-318 ◽  
Author(s):  
L. Keller ◽  
K. Meichner ◽  
S. Unterer ◽  
K. Hartmann ◽  
I. Zenker

Summary Objective: Severe thrombocytopenia is a common sequelae to heat stroke in dogs. So far it has been hypothezised that it is due to disseminated intravascular coagulation. We hypothezised that it is due to immune mediated destruction via antiplatelet antibodies. Material and methods: Prospective evaluation of dogs with heat stroke from May 2005 to August 2008. Dogs that developed severe thrombocytopenia within 5 days of admission were included in the study. All dogs were treated with a standardized treatment protocol. In addition, they received either immunoglobulins or prednisolone. Results: Six dogs were presented with heat stroke during that time period. Four developed a severe thrombocytopenia. All four dogs tested positive for antiplatelet antibodies and did not have elevated D-Dimers at that time. Platelet count in three dogs recovered fully, one dog was euthanized due to liver and renal failure. Conclusion: In those cases thrombocytopenia was due to immune mediated destruction not due to DIC. Clinical rele-vance: Due to the severity of the thrombocytopenia and the high risk for bleeding in those patients, immunosuppressive therapy in addition to DIC prophylaxis should be discussed.


1971 ◽  
Vol 26 (03) ◽  
pp. 488-492 ◽  
Author(s):  
Th B. Tschopp ◽  
H.-R Baumgartner ◽  
A Studer

SummaryIn rabbits and cats Congo red administered intravenously causes severe thrombocytopenia and ultrastructural alterations of platelets and leucocytes, similar to those produced by some fatty acids and endotoxin. Transient leucopenia is followed by leucocytosis. In contrast, incubation of Congo red in citrated blood or platelet rich plasma has no effect. Therefore, an indirect mechanism is postulated to explain the in vivo effect of Congo red.


2018 ◽  
pp. 97-103
Author(s):  
Huu Hoi Vo ◽  
Binh Bao Son Bui

Objective: To determine the relationship between coagulation abnormalities and main clinical features, and hematologic tests. Methods: A descriptive cross-sectional study was conducted in 65 children with sepsis at the PICU, Da Nang Hospital for Women and Children from April 2012 to June 2013. Results: The frequency of internal hemorrhage in septic shock children was significantly higher than in children with sepsis (p < 0.001). The rate of thrombocytopenia was 30.8%, in which 10.8% of the children had severe thrombocytopenia (<50 x 109/l). Hypofibrinogenemia was observed in 30.8% of the patients, in which severe hypofibrinogenemia (≤ 1 g/l) was observed in 16.9% of the children. The frequency of reduced prothrombin ratio was 40%, in which 23.1% of the patients had prothrombin ratio < 50%. 35.4% of the patients had rAPTT > 1.15. Positive D-dimer and DIC were observed in 53.8% and 20% of the patients, respectively. Hemostatic changes showed the significant relationship with hemorrhage and the mortality of sepsis. Conclusion: Children with sepsis, especially septic shock were at high risk of coagulation dysfunction and coagulation abnormalities showed the correlation with hemorrhage and the mortality of sepsis. Key words: coagulation abnormalities, sepsis, children


Author(s):  
Alessandro Squizzato ◽  
Silvia Galliazzo ◽  
Elena Rancan ◽  
Marina Di Pilla ◽  
Giorgia Micucci ◽  
...  

AbstractOptimal management of venous thromboembolism (VTE) in cancer patients with thrombocytopenia is uncertain. We described current management and clinical outcomes of these patients. We retrospectively included a cohort of cancer patients with acute VTE and concomitant mild (platelet count 100,000–150,000/mm3), moderate (50,000–99,000/mm3), or severe thrombocytopenia (< 50,000/mm3). Univariate and multivariate logistic regression analyses explored the association between different therapeutic strategies and thrombocytopenia. The incidence of VTE and bleeding complications was collected at a 3-month follow-up. A total of 194 patients of whom 122 (62.89%) had mild, 51 (26.29%) moderate, and 22 (11.34%) severe thrombocytopenia were involved. At VTE diagnosis, a full therapeutic dose of LMWH was administered in 79.3, 62.8 and 4.6% of patients, respectively. Moderate (OR 0.30; 95% CI 0.12–0.75), severe thrombocytopenia (OR 0.01; 95% CI 0.00–0.08), and the presence of cerebral metastasis (OR 0.06; 95% CI 0.01–0.30) were independently associated with the prescription of subtherapeutic LMWH doses. Symptomatic VTE (OR 4.46; 95% CI 1.85–10.80) and pulmonary embolism (OR 2.76; 95% CI 1.09–6.94) were associated with the prescription of full therapeutic LMWH doses. Three-month incidence of VTE was 3.9% (95% CI 1.3–10.1), 8.5% (95% CI 2.8–21.3), 0% (95% CI 0.0–20.0) in patients with mild, moderate, and severe thrombocytopenia, respectively. The corresponding values for major bleeding and mortality were 1.9% (95% CI 0.3–7.4), 6.4% (95% CI 1.7–18.6), 0% (95% CI 0.0–20.0) and 9.6% (95% CI 5.0–17.4), 48.2% (95% CI 16.1–42.9), 20% (95% CI 6.6–44.3). In the absence of sound evidence, anticoagulation strategy of VTE in cancer patients with thrombocytopenia was tailored on an individual basis, taking into account not only the platelet count but also VTE presentation and the presence of cerebral metastasis.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Michinori Mayama ◽  
Mamoru Morikawa ◽  
Takashi Yamada ◽  
Takeshi Umazume ◽  
Kiwamu Noshiro ◽  
...  

Abstract Background Currently, there is a disagreement between guidelines regarding platelet count cut-off values as a sign of maternal organ damage in pre-eclampsia; the American College of Obstetricians and Gynecologists guidelines state a cut-off value of < 100 × 109/L; however, the International Society for the Study of Hypertension in Pregnancy guidelines specify a cut-off of < 150 × 109/L. We evaluated the effect of mild thrombocytopenia: platelet count < 150 × 109/L and ≥ 100 × 109/L on clinical features of pre-eclampsia to examine whether mild thrombocytopenia reflects maternal organ damage in pre-eclampsia. Methods A total of 264 women were enrolled in this study. Participants were divided into three groups based on platelet count levels at delivery: normal, ≥ 150 × 109/L; mild thrombocytopenia, < 150 × 109/L and ≥ 100 × 109/L; and severe thrombocytopenia, < 100 × 109/L. Risk of severe hypertension, utero-placental dysfunction, maternal organ damage, preterm delivery, and neonatal intensive care unit admission were analyzed based on platelet count levels. Estimated relative risk was calculated with a Poisson regression analysis with a robust error. Results Platelet counts indicated normal levels in 189 patients, mild thrombocytopenia in 51 patients, and severe thrombocytopenia in 24 patients. The estimated relative risks of severe thrombocytopenia were 4.46 [95 % confidence interval, 2.59–7.68] for maternal organ damage except for thrombocytopenia, 1.61 [1.06–2.45] for preterm delivery < 34 gestational weeks, and 1.35 [1.06–1.73] for neonatal intensive care unit admission. On the other hand, the estimated relative risks of mild thrombocytopenia were 0.97 [0.41–2.26] for maternal organ damage except for thrombocytopenia, 0.91 [0.62–1.35] for preterm delivery < 34 gestational weeks, and 0.97 [0.76–1.24] for neonatal intensive care unit admission. Conclusions Mild thrombocytopenia was not associated with severe features of pre-eclampsia and would not be suitable as a sign of maternal organ damage.


2021 ◽  
Vol 32 (3) ◽  
pp. 286-289
Author(s):  
I-Fan Lin ◽  
Jiun-Nong Lin ◽  
Tsung-Heng Tsai ◽  
Chao-Tien Hsu ◽  
Yu-Ying Wu ◽  
...  

Coexistence of multicentric Castleman disease and Kaposi sarcoma is rare and might be missed without an experienced pathologists’ interpretation. A 46-year-old man had been diagnosed with HIV infection and treated with combination antiretroviral therapy of dolutegravir/abacavir/lamivudine (Triumeq) for one year. The latest viral load was 49 copies/mL and CD4 T-cell count was 192 cells/uL. He was admitted due to fever off and on, splenomegaly, general lymphadenopathy, and severe thrombocytopenia for two months. Biopsy of a purplish skin lesion and gastric tissue showed Kaposi sarcoma. The pathology of inguinal lymph nodes revealed coexistence of Kaposi sarcoma and multicentric Castleman disease. The plasma Kaposi sarcoma herpesvirus viral load was 365,000 copies/mL. During hospitalization, progressive pancytopenia and spiking fever persisted, and he died of multi-organ failure before completion of chemotherapeutic treatments with rituximab plus liposomal doxorubicin.


Cardiology ◽  
2020 ◽  
pp. 1-5
Author(s):  
Ang Li ◽  
Dan Yin ◽  
Xupei Huang ◽  
Lixin Zhang ◽  
Tiewei Lv ◽  
...  

<b><i>Background:</i></b> Our aim is to analyze the correlation between severe thrombocytopenia and the diameter of patent ductus arteriosus (PDA) and residual shunt after PDA closure. <b><i>Methods:</i></b> The patients with severe thrombocytopenia (platelet count &#x3c;50 × 10<sup>9</sup>/L) following transcatheter occlusion of a PDA from January 2010 to December 2018 in the Children’s Hospital of Chongqing Medical University were collected. And the high-risk factors, diagnosis, treatment, and prognosis of severe thrombocytopenia were analyzed. <b><i>Results:</i></b> A total of 1,581 children with transcatheter occlusion of a PDA were collected; 22 (1.39%) of the enrolled patients had severe thrombocytopenia. Further data analysis showed that the median diameter of PDA (6.7 [IQR: 1.63]) mm in children with severe thrombocytopenia was significantly larger than that in children without severe thrombocytopenia (3.6 ± 1.7 mm, <i>p</i> &#x3c; 0.001). Furthermore, the incidence of thrombocytopenia in children with residual shunt after operation (10.9%) was significantly higher than that in children without residual shunt (0.2%, <i>p</i> &#x3c; 0.001). The mean time of thrombocytopenia was found to be 2.4 ± 1.3 days after intervention. All patients with thrombocytopenia were treated by methylprednisolone with or without platelet transfusion and recovered without major organ hemorrhage. <b><i>Conclusions:</i></b> Severe thrombocytopenia following transcatheter occlusion of a PDA may be related to the larger diameter of PDA and residual shunt. If early detection of severe thrombocytopenia is obtained, our study supports a good prognosis if appropriate measures are implemented.


2021 ◽  
Author(s):  
Lama AlTawil ◽  
Hind Alshihry ◽  
Huda Faraidi ◽  
Amal Alhashem ◽  
Ahmed Alhumidi ◽  
...  

2021 ◽  
Vol 10 (3) ◽  
pp. 536
Author(s):  
Senthil Sukumar ◽  
Bernhard Lämmle ◽  
Spero R. Cataland

Thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy characterized by microangiopathic hemolytic anemia, severe thrombocytopenia, and ischemic end organ injury due to microvascular platelet-rich thrombi. TTP results from a severe deficiency of the specific von Willebrand factor (VWF)-cleaving protease, ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13). ADAMTS13 deficiency is most commonly acquired due to anti-ADAMTS13 autoantibodies. It can also be inherited in the congenital form as a result of biallelic mutations in the ADAMTS13 gene. In adults, the condition is most often immune-mediated (iTTP) whereas congenital TTP (cTTP) is often detected in childhood or during pregnancy. iTTP occurs more often in women and is potentially lethal without prompt recognition and treatment. Front-line therapy includes daily plasma exchange with fresh frozen plasma replacement and immunosuppression with corticosteroids. Immunosuppression targeting ADAMTS13 autoantibodies with the humanized anti-CD20 monoclonal antibody rituximab is frequently added to the initial therapy. If available, anti-VWF therapy with caplacizumab is also added to the front-line setting. While it is hypothesized that refractory TTP will be less common in the era of caplacizumab, in relapsed or refractory cases cyclosporine A, N-acetylcysteine, bortezomib, cyclophosphamide, vincristine, or splenectomy can be considered. Novel agents, such as recombinant ADAMTS13, are also currently under investigation and show promise for the treatment of TTP. Long-term follow-up after the acute episode is critical to monitor for relapse and to diagnose and manage chronic sequelae of this disease.


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