The PFA-100 Does Not Predict Delta-Granule Platelet Storage Pool Deficiencies

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 2518-2518
Author(s):  
Jonathan L Sladky ◽  
Jennifer Klima ◽  
Linda Grooms ◽  
Bryce A Kerlin ◽  
Sarah H O'Brien
Keyword(s):  
Electron Microscopy ◽  
Family History ◽  
Platelet Function ◽  
Screening Test ◽  
P Value ◽  
Storage Pool ◽  
Platelet Storage ◽  
Platelet Function Disorders ◽  
History Of ◽  
The Relationship

Abstract Abstract 2518 Background: Although delta-granule platelet storage pool deficiencies (δ-PSPDs) are common disorders of platelet function, they are relatively poorly studied and described. One unknown is the relationship between δ-PSPDs and the PFA-100, a screening test originally developed for von Willebrand's disease but now widely used as a general screening test for coagulopathies. Previous studies have suggested that the PFA-100 is less effective in detecting mild platelet function disorders (which include δ-PSPDs) than more severe platelet function disorders. These studies, however, were limited by small numbers of patients with a variety of different platelet function defects. We examined PFA-100 results in a larger pediatric patient population diagnosed specifically with δ-PSPD, and determined the relationship between PFA-100 results and platelet electron microscopy (the standard for diagnosis of δ-PSPDs). Methods: This study is a retrospective medical record review of patients 0 to 18 years of age diagnosed with δ-PSPD at Nationwide Children's Hospital between January 1, 2008 and July 31, 2010. We defined δ-PSPD as patients with an average of fewer than 3.68 delta granules per platelet. We obtained demographic data including age, sex, and family history of bleeding. Lab data was also extracted, including PFA-100 and platelet electron microscopy. We determined the percentage of δ-PSPD patients with an abnormal PFA-100. To examine the correlation between the PFA-100 results and the average number of granules per platelet we used Spearman's Rho as our non-parametric measure of dependence. Results: A total of 88 patients diagnosed with δ-PSPD were included in this study. Of our patient population, 35% were male, and 61% had a first degree family history of easy bruising or bleeding, while only 15% had a family history that was positive specifically for platelet function disorders. The most common symptoms on presentation were easy bruising (56%), epistaxis (39%), oral cavity bleeding (35%) and menorrhagia (30%). Eighty-one of these patients underwent PFA-100 testing, of which 41% had an abnormal CEPI value, 17% had an abnormal CADP value, and 14% had abnormal results for both PFA cartridges. We found no statistical correlation between CEPI closure time and the average number of granules per platelet (rho = 0.0315, p value = 0.7798), nor between CADP closure time and the average number of granules (rho = -0.0095, p value = 0.9328)(Figure). Additionally, the number of bleeding symptoms in each patient was not statistically correlated with CEPI closure times, CADP closure times or platelet EM. Discussion: The PFA-100, which is widely used as a screening test for suspected bleeding disorders, was abnormal in fewer than half of pediatric patients diagnosed with δ-PSPD. We found that PFA-100 results did not correlate with presence or severity of delta-granule platelet storage pool deficiencies as determined by platelet electron microscopy. When evaluating patients with suspected bleeding disorders, PFA-100 testing alone cannot be used to rule out the presence of a δ-PSPD. Disclosures: No relevant conflicts of interest to declare.

Platelet Delta Storage Pool Deficiency In Children : A Case Series

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4747-4747
Author(s):  
Shirley M. Abraham ◽  
Koh Boayue ◽  
Ibrahim Ahmed
Keyword(s):  
Electron Microscopy ◽  
Platelet Aggregation ◽  
Family History ◽  
Platelet Function ◽  
Dense Granule ◽  
Antifibrinolytic Agents ◽  
Presenting Symptoms ◽  
Storage Pool ◽  
Mucocutaneous Bleeding ◽  
Platelet Transfusions

Introduction Delta storage pool deficiency (δ-SPD) is a rare group of platelet disorders characterized by a reduction in the number or content of dense granules. δ-SPD causes a mild to moderate bleeding diathesis characterized mainly by mucocutaneous bleeding. A suspected case of δ-SPD can be diagnosed by the patient’s presentation, a family history and suggestive clinical bleeding or preliminary laboratory results such as a typical platelet aggregation pattern, characterized by normal aggregation with ristocetin and lack of second wave of aggregation with ADP or epinephrine. However not all patients have a typical presentation. This is a review of 6 pediatric patients with δ-SPD at our institution. Results We have 3 male and 3 female children with a confirmed diagnosis of δ-SPD. Their current age ranges from 19 months-17 years. Four of the 6 patients are Hispanic and 2 Caucasian. A positive family history of excessive bleeding was obtained in 4 patients. The youngest patient was 2 weeks at diagnosis. Epistaxis was the most common presenting symptom. The youngest patients in the group presented with subdural hematomas before the age of 2. The 17 year old presented with significant menorrhagia and anemia, requiring red cells and platelet transfusions in addition to antifibrinolytic agents and oral contraceptives. The preliminary work up in all patients included a CBC, PT, PTT and platelet function analysis (PFA).PFA was reported as abnormal in only 1 patient and was not accurate in another patient due to platelet clumping. Platelet aggregation studies and Von Willebrand’s panel were done and reported as normal in 5 patients. Platelet count ranged from 248,000- 552,000/mm3. Electron microscopy ranged from 1.69-3.59 dense granule/platelet (normal 4-6 dense granule/platelet). All of the patients were primarily managed by preventive measures and antifibrinolytic agents. Platelet transfusions have been reserved for life threatening bleeds or surgical procedures. Conclusions The presentation of this rare bleeding disorder is not limited to mucocutaneous bleeding. Presenting symptoms in the very young could be limited to an intracranial hemorrhage. Electron microscopy to diagnose this condition should be pursued despite normal platelet function and aggregation studies, especially in patients with a high index of suspicion based on their clinical presentation or family history. Disclosures: No relevant conflicts of interest to declare.

Platelet storage pool disorder in pregnancy: Utilising thromboelastography to guide a risk-based delivery plan

2021 ◽  
pp. 1753495X2098025
Author(s):  
Timothy AC Snow ◽  
Rezan A Abdul-Kadir ◽  
Keith Gomez ◽  
Adrian England
Keyword(s):  
Platelet Count ◽  
Platelet Function ◽  
Point Of Care ◽  
Major Haemorrhage ◽  
Dense Granules ◽  
Storage Pool ◽  
Platelet Storage ◽  
Platelet Function Disorders ◽  
Multi Disciplinary Team ◽  
In Pregnancy

We present a case of a 33-year-old woman in her third pregnancy diagnosed with platelet storage pool disorder who had previously suffered two postpartum major obstetric haemorrhages. Platelet storage pool disorder is a rare bleeding disorder where the platelet count is normal but platelet function is impaired due to deficiency of dense granules. A peripartum plan devised by an extensive multi-disciplinary team using principles for managing other bleeding and platelet function disorders helped minimise her risk of major haemorrhage. We also describe how point-of-care thromboelastography can help guide management and enable an individualised risk-benefit discussion with the woman about her anaesthetic choices.

scholarly journals Relation Between Hypertension Incidences with Family History of Hypertension to Summarecon Mall Serpong Visitors. Jurnal Kesehatan SCIENTIA Vol. 1 No.1, Juli 2020.

2020 ◽  
Author(s):  
Dwi Ayu Lestari ◽  
Ichsan Trisutrino ◽  
Kustia Anggereni ◽  
Resita Nurbayani
Keyword(s):  
Family History ◽  
Communicable Disease ◽  
Blood Pressure Measurement ◽  
P Value ◽  
Chi Square ◽  
Chi Square Test ◽  
History Of ◽  
Family History Of Hypertension ◽  
The Relationship ◽  
Non Communicable Disease

Hypertension is a non-communicable disease which causes death in the world, including in Indonesia. Increased prevalence of hypertension can be caused by lifestyle, stress and others. The purpose of this study was to determine the relationship between the incidence of hypertension and family history of suffering from hypertension. This study used an analytical survey with aCross-Sectional Study design conducted in August 2019. The research instrument was a questionnaire and blood pressure measurement. A total of 177 Summarecon Mall Serpong visitors were respondents in the study taken by accidental sampling. Data analysis using Chi Square test. The results of this study indicate that respondents who suffer from hypertension with a family history of hypertension by 60% and respondents who do not suffer from hypertension 17.5%, the incidence of hypertension with a family history of hypertension namely (OR = 7.05; 95%; CI 3.54 -14.05; p-value = 0,000). People who have a family history of suffering from hypertension 7x more at risk of developing hypertension. The conclusion of this study is that there is a relationship between the incidence of hypertension with a family history of hypertension in Summarecon Mall Serpong Visitors

A Case Report on Glanzmann’s Thrombasthenia: A Rare Platelet Function Disorder

2018 ◽  
Vol 2 (02) ◽  
pp. 59-60
Author(s):  
Farida Yasmin ◽  
Md. Anwarul Karim ◽  
Chowdhury Yakub Jamal ◽  
Mamtaz Begum ◽  
Ferdousi Begum
Keyword(s):  
Case Report ◽  
Platelet Function ◽  
The Body ◽  
Presenting Symptoms ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Platelet Function Disorders ◽  
Recurrent Epistaxis ◽  
Severe Epistaxis ◽  
History Of

Epistaxis in children is one of the important presenting symptoms for attending emergency department in paediatric patients. Recurrent epistaxis is common in children. Although epistaxis in children usually occurred due to different benign conditions, it may be one of the important presenting symptoms of some inherited bleeding disorder. Whereas most bleeding disorders can be diagnosed through different standard hematologic assessments, diagnosing rare platelet function disorders may be challenging. In this article we describe one case report of platelet function disorders on Glanzmann’s thrombasthenia (GT). Our patient was a 10-year old girl who presented to us with history of recurrent severe epistaxis. She had a bruise on her abdomen and many scattered petechiae in different parts of the body. Her previous investigations revealed no demonstrable haemostatic anomalies. After performing platelet aggregation test, she was diagnosed as GT.

scholarly journals Vitamin D status and risk of type 2 diabetes in the Norwegian HUNT cohort study: does family history or genetic predisposition modify the association?

2021 ◽  
Vol 9 (1) ◽  
pp. e001948
Author(s):  
Marion Denos ◽  
Xiao-Mei Mai ◽  
Bjørn Olav Åsvold ◽  
Elin Pettersen Sørgjerd ◽  
Yue Chen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Genetic Predisposition ◽  
Effect Modification ◽  
P Value ◽  
Family History Of Diabetes ◽  
Increased Risk ◽  
History Of

IntroductionWe sought to investigate the relationship between serum 25-hydroxyvitamin D (25(OH)D) level and the risk of type 2 diabetes mellitus (T2DM) in adults who participated in the Trøndelag Health Study (HUNT), and the possible effect modification by family history and genetic predisposition.Research design and methodsThis prospective study included 3574 diabetes-free adults at baseline who participated in the HUNT2 (1995–1997) and HUNT3 (2006–2008) surveys. Serum 25(OH)D levels were determined at baseline and classified as <50 and ≥50 nmol/L. Family history of diabetes was defined as self-reported diabetes among parents and siblings. A Polygenic Risk Score (PRS) for T2DM based on 166 single-nucleotide polymorphisms was generated. Incident T2DM was defined by self-report and/or non-fasting glucose levels greater than 11 mmol/L and serum glutamic acid decarboxylase antibody level of <0.08 antibody index at the follow-up. Multivariable logistic regression models were applied to calculate adjusted ORs with 95% CIs. Effect modification by family history or PRS was assessed by likelihood ratio test (LRT).ResultsOver 11 years of follow-up, 92 (2.6%) participants developed T2DM. A higher risk of incident T2DM was observed in participants with serum 25(OH)D level of<50 nmol/L compared with those of ≥50 nmol/L (OR 1.72, 95% CI 1.03 to 2.86). Level of 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in adults without family history of diabetes (OR 3.87, 95% CI 1.62 to 9.24) but not in those with a family history (OR 0.72, 95% CI 0.32 to 1.62, p value for LRT=0.003). There was no effect modification by PRS (p value for LRT>0.23).ConclusionSerum 25(OH)D<50 nmol/L was associated with an increased risk of T2DM in Norwegian adults. The inverse association was modified by family history of diabetes but not by genetic predisposition to T2DM.

scholarly journals A Platelet Acquired Storage Pool Disorder Associated with Tamoxifen Therapy

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Lalitha Nayak ◽  
Alvin H. Schmaier
Keyword(s):  
Breast Cancer ◽  
Platelet Function ◽  
Tooth Extraction ◽  
Function Analysis ◽  
Tamoxifen Therapy ◽  
Storage Pool ◽  
Prolonged Bleeding ◽  
Platelet Storage

The antiestrogenic drug tamoxifen, used in patients with breast cancer, is associated with an increase in arterial and venous thrombotic events, the mechanism of which is not clearly understood. We report a case of a lady who presented with new bruising and prolonged bleeding following a tooth extraction 4–6 weeks after starting tamoxifen. Investigations were consistent with an acquired platelet storage pool disorder. Repeat platelet function analysis was normal, performed 3 months after discontinuation of tamoxifen. We present a previously clinically unreported effect of tamoxifen on platelet function.

scholarly journals Immature dense granules in platelets from mice with platelet storage pool disease

Blood ◽  
1987 ◽  
Vol 69 (5) ◽  
pp. 1300-1306 ◽  
Author(s):  
M Reddington ◽  
EK Novak ◽  
E Hurley ◽  
C Medda ◽  
MP McGarry ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Dense Granule ◽  
Mutant Mice ◽  
Normal Numbers ◽  
Group Of Seven ◽  
Dense Granules ◽  
Storage Pool ◽  
Platelet Storage ◽  
Transmission Electron ◽  
Storage Pool Disease

Mepacrine uptake into platelets and bone marrow megakaryocytes was analyzed to further characterize the dense granule defects in a group of seven mouse pigment mutants that have characteristics of platelet storage pool disease (SPD). In contrast to our previous studies using electron microscopy, this method revealed that all mutants had normal numbers of dense granules. However, total mepacrine uptake in all mutant platelets was significantly diminished to less than 50% of normal uptake. Also, the flashing phenomenon observed when normal dense granules are irradiated with ultraviolet light was either greatly diminished or absent when platelets of individual mutants were similarly irradiated. Therefore the principal defect in the mutant platelets is an inability to accumulate dense granule contents rather than an absence of the granules. Mepacrine uptake into megakaryocytes was indistinguishable in normal and mutant mice. This indicates the mutant dense granule defects appear either very late in megakaryocyte development or early in platelet formation in correlation with development of the mature dense granule. By standard transmission electron microscopy we have not been able to detect gross structural or subcellular abnormalities in either platelets or megakaryocytes of mutant mice. It appears all seven mutants produce immature or functionally abnormal dense granules.

scholarly journals Major clinical risk factors for seizures in febrile children aged 6 to 60 months.

2020 ◽  
Vol 27 (05) ◽  
pp. 891-894
Author(s):  
Shahid Ishaq ◽  
Ejaz Mazari ◽  
Fazal ur Rehman
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Febrile Seizures ◽  
Study Groups ◽  
Clinical Risk Factors ◽  
P Value ◽  
Chi Square ◽  
Clinical Risk ◽  
Significant Difference ◽  
History Of

Objectives: Febrile seizures (FS) are the most common type of seizures and typically transpire in children with ages from 6 to 60 months. This study was planned to find out major clinical risk factors for seizures in febrile children who were aged 6 to 60 months. A total of 100 febrile children aged 6 to 60. Study Design: Analytical Study. Setting: Department of Neurology, Children’s Hospital and the Institute of Child Health, Multan. Period: From 1st April 2018 to 31st December 2018. Material & Methods: Group A had 40 children with febrile seizures while group B had 60 febrile children but without seizures. Demographic features along with family history of (H/O) epilepsy as well as family history of febrile seizure, types of seizure and infection diseases were noted and analyzed using SPSS version 20. Odds ratio was calculated for various risk factors. Chi square test was applied and P value < 0.05 was considered as significant. Results: Out of a total of 100 children, there were 54 (54.0%) male and 46 (46.0%) female. There was no statistical difference in terms of gender between the two groups (p value = 0.566). Overall, mean age of the children was 26.02 months with standard deviation of 13.4 months. There were 28 (70.0%) children who reported with simple seizures while complex seizures were found in 12 (30.0%) cases. Statistically significant difference (p value = 0.001) was seen in terms of types of infections between the two study groups. When risk of seizures for various risk factors was calculated, family H/O FS, family H/O epilepsy, and upper RTI were as 14, 7 and 3 times respectively and turned out to be the major risk factors for seizures in febrile children. Conclusions: Family H/O FS, family H/O epilepsy and upper RTIs are the major risk factors related with seizures in febrile children. Measures to prevent these risk factors can decrease the burden of FS in our population.

scholarly journals The relationship between serum hepatitis B core-related antigen and hepatitis B virus DNA in treatment-naïve patients with hepatitis B cirrhosis: A cross-sectional study

2021 ◽  
Author(s):  
Baiguo Xu ◽  
Lian Jia ◽  
Anjing Liu ◽  
Ying Liu ◽  
Tao Han ◽  
...  
Keyword(s):  
Family History ◽  
Hepatitis B ◽  
Hbv Dna ◽  
Hepatic Carcinoma ◽  
Primary Hepatic Carcinoma ◽  
B Virus ◽  
Treatment Naïve ◽  
History Of ◽  
Pugh Class ◽  
The Relationship

Abstract Aims. The relationship between hepatitis B core-related antigen (HBcrAg) and hepatitis B virus (HBV) DNA has already been adequately researched in patients with chronic hepatitis B (CHB) infection, but there are only a few researches yet on the correlations between HBcrAg and HBV DNA in treatment-naïve patients with hepatitis B cirrhosis. Here we explore the correlation between HBcrAg and HBV DNA in this population. Methods. Available data and samples of 98 untreated patients with hepatitis B cirrhosis between October 2018 and October 2019 were analysed. Statistical analyses included baseline characteristics, univariate analysis, stratification analysis, three different analytical models, and a generalized additive model. Results. After adjusting for all recorded confounders (sex, age, diagnosis of primary hepatic carcinoma, total bilirubin（TBIL）, hepatitis B surface antigen (HBsAg), hepatitis B e antigen(HBeAg), Child–Pugh class, family history of HBV infection, family history of hepatocellular carcinoma(HCC), alcohol-related liver disease (ALD), and diabetes mellitus), a linear relationship was detected between HBcrAg and HBV DNA (β=0.59, 95%CI=0.34–0.84, P<0.0001). The variational trend of HBcrAg and HBV DNA in each stratified variable (sex, age, HBeAg, family history of HBV infection, family history of HCC, diabetes mellitus, diagnosis of primary hepatic carcinoma, Child–Pugh class, and ALD) were consistent. Conclusion. There was a linear and positive correlation between HBcrAg and HBV DNA in treatment-naïve patients with hepatitis B cirrhosis.

Sign in / Sign up

Export Citation Format

Share Document