Investigating people with mucocutaneous bleeding suggestive of primary hemostatic defects: a low likelihood of a definitive diagnosis?

Favaloro, Emmanuel J.

doi:10.3324/haematol.11231

Cited by 22 publications

(14 citation statements)

References 37 publications

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“…In recent reviews of clinical experience at specialty centers, the fraction of patients with a specific diagnosis at the end of the workup was less than 50% and even lower if VWF deficiency is excluded. 40,41 Assessing the Efficacy of Antiplatelet Agents. The widespread use of antiplatelet agents to prevent cardiovascular events has inevitably led to attempts to use platelet function testing to adjust dosing and determine the etiology of "drug resistance."…”

Section: Evaluating Platelet Function In Vitro and In Vivomentioning

confidence: 99%

Understanding and Evaluating Platelet Function

Brass

2010

Hematology

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The contribution of platelets to normal hemostasis and vascular disease is well described. However, recent studies make it clear that much remains to be learned about platelet activation at the single cell and the molecular level, and about the contribution of platelets to inflammation, tumor angiogenesis, and embryonic development. This article is divided into two themes. The first is an overview of current knowledge of the mechanisms that drive platelet function in vivo and a brief summary of some of the emerging ideas that are modifying older views. The second theme is a consideration of the strengths and weaknesses of the tools we have as hematologists to assess platelet function in the clinical setting, identify mechanisms, and evaluate the impact of antiplatelet agents.Although fish, birds, and presumably dinosaurs make do with nucleated thrombocytes as the cellular component of hemostasis, platelets evolved in mammals as a specialized means to seal leaks in a high-pressure, high-flow circulatory system. Many of the most pertinent properties of platelets-including their shape, the contents of their secretory granules, their high density of regulatable adhesion receptors, and their ability to promote thrombin generation-are dictated by the requirements of forming a stable hemostatic plug under high-flow conditions. Circulating platelets must be able to sustain repeated contact with the normal vessel wall without premature activation, recognize the unique features of a damaged wall, cease forward motion upon recognition of damage, adhere despite the forces produced by continued blood flow, and cohere to each other, forming a stable plug of the correct size that can remain in place until it is no longer needed. This brief review considers some of the current ideas about platelet activation and the evaluation of platelet function in the research and clinical settings.

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Section: Evaluating Platelet Function In Vitro and In Vivomentioning

confidence: 99%

Understanding and Evaluating Platelet Function

Brass

2010

Hematology

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“…However, others like umbilical stump bleeding and bleeding from eye and ear are highly suggestive of an underlying bleeding disorder. To confuse the matter further, disorders like VWD may be asymptomatic for most of their life and present for the first time in adulthood 2. Moreover, clotting disorders like hemophilia may occasionally have onset as mucocutaneous bleeds.…”

Section: Discussionmentioning

confidence: 99%

Mild bleeders: Diagnosis is elusive in large number of patients

Kotru

Mutereja

Purohit

et al. 2016

Mediterr J Hematol Infect Dis

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BackgroundBleeding is a common clinical presentation. Even patients with mild bleeding disorders are extensively investigated for ascertaining the cause. The present study was conducted in order to evaluate the extent of the possibility of diagnosis in mild bleeding disorders.Material and MethodsThis was a prospective study of patients referred for work up of mild bleeding for a period of 13 months. A complete blood count, peripheral smear examination, Prothrombin time, Partial Thromboplastin time and Thrombin Time, Platelet Aggregometry test, tests for von Willebrand’s disease and Platelet Factor 3 availability were measured.Results164 patients presented with mild bleeding, in 114 of the patients a single site of bleeding was present. Epistaxis was the most common presentation (39%). Cutaneous bleeding (petechiae and purpura) was the next common site. History of a major bleeding tendency in the family was present only in 11 patients. The investigations showed that VWD (17/164), followed by clotting disorders (CD) mainly mild hemophilia (15/164) were the most common diagnosable cause. There were also 4 cases of hypofibrinogenemia. The disorders of platelets (Platelet function defects/PFD) were the least common (9/164). Rest 123 (75%) patients could not be diagnosed on the basis of these investigations and were labeled as Bleeding disorders – Unclassified (BDC).Conclusionn our study, 75% of the patients with mild bleeding remained undiagnosed even after extensive laboratory workup, thus raising a very pertinent question that is it necessary that all mild bleeders submit to a broad battery of investigations, as the diagnosis continues to be elusive despite extensive workup.

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Section: Discussionmentioning

confidence: 99%

“…Platelet aggregation testing is widely used in routine diagnostic laboratories for the investigation of patients with a bleeding tendency (Storey & Heptinstall, 1999;Nurden & George, 2001;Hayward, 2003;Favaloro, 2007;Quiroga et al, 2007). Unlike most laboratory tests, the quality of aggregation performance cannot be assessed by conventional external assurance programs, because of the short-term viability of the test material (Harrison, 2004;Moffat et al, 2005;Hayward & Eikelboom, 2007).…”

Section: Discussionmentioning

confidence: 99%

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Methodology and outcomes of platelet aggregation testing in Australia, New Zealand and the Asia‐Pacific region: results of a survey from the Royal College of Pathologists of Australasia Haematology Quality Assurance Program

Duncan

Bonar

Rodgers

et al. 2009

Int J Lab Hematology

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Platelet aggregometry is widely used to investigate platelet function but its performance is poorly standardized between laboratories. The aim of this work was to document the platelet aggregation methods used in specialist laboratories enrolled in the Haematology Quality Assurance Program of the Royal College of Pathologists of Australasia. A questionnaire requesting many details of methodology was distributed and from the responses, we determined a consensus view. Consensus was defined here as >70% agreement among respondents in answer to a question and this was seen for a number of aspects of the preanalytical, analytical and interpretive phases. However, for many questions there was a wide variation in responses. Sixteen laboratories provided a breakdown of the types of abnormal results typically seen in a 12-month period. In these laboratories a total of 1400 patients were tested and 390 (27%) had abnormal platelet function. Although it was common to diagnose the cause as aspirin or an aspirin-like defect or a release/storage pool disorder, the range of experience was wide and other rare defects were reported. We conclude that whilst there are a number of points of agreement between laboratories in platelet function testing, standardization could be improved.

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Investigating people with mucocutaneous bleeding suggestive of primary hemostatic defects: a low likelihood of a definitive diagnosis?

Cited by 22 publications

References 37 publications

Understanding and Evaluating Platelet Function

Understanding and Evaluating Platelet Function

Mild bleeders: Diagnosis is elusive in large number of patients

Methodology and outcomes of platelet aggregation testing in Australia, New Zealand and the Asia‐Pacific region: results of a survey from the Royal College of Pathologists of Australasia Haematology Quality Assurance Program

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