Nine Kindreds of Familial Sticky Platelet Syndrome Phenotype

Šimonová, Radoslava; Bartošová, Lenka; Chudý, Peter; Staško, Ján; Rumanová, Stanislava; Sokol, Juraj; Peter, Kubisz

doi:10.1177/1076029612439340

Cited by 16 publications

(17 citation statements)

References 21 publications

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“…In the past decade, more case reports and case series, providing an ever increasing evidence on the clinical picture, 29-35,37-49 treatment 50 or familial occurrence and autosomal trait of inheritance, 36,51 were published. The presented clinical data provided further support for the previous observations but add no new characteristics or treatment strategies with the exception of the manuscripts written by El-Amm et al, 34 Mühlfeld et al, 40 Yagmur et al, 45 Lewerenz et al, 33 Moncada et al, 49 and Velázquez-Sánchezde-Cima et al 50 El-Amm et al, Mühlfeld et al, and Yagmur et al described platelet hyperaggregability in a new clinical setting-in the patients undergoing hemodialysis or renal transplant recipients with thrombotic complications or impaired function of the graft.…”

Section: The Discovery Of Sps: From Its Initial Description To Full Cmentioning

confidence: 99%

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Sticky Platelet Syndrome: History and Future Perspectives

Kubisz

Ruíz‐Argüelles

Staško

et al. 2014

Semin Thromb Hemost

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The sticky platelet syndrome (SPS) is a thrombophilic qualitative platelet disorder with familial occurrence and autosomal dominant trait, characterized by increased in vitro platelet aggregation after low concentrations of adenosine diphosphate and/or epinephrine. Its clinical manifestation includes arterial thrombosis, pregnancy complications (fetal growth retardation and fetal loss), and less often venous thromboembolism. SPS was considered to be a rare thrombophilic disorder, but it can be found relatively often as a cause of unexplained thrombosis, particularly among patients with arterial thrombosis such as stroke. The syndrome was recognized as a distinct disorder in 1983 by Holiday and further characterized in the 1980s and 1990s, with Mammen and Bick providing the key findings. Although recognized for more than 30 years, significant issues, namely the syndrome's etiology, inheritance, and epidemiology, remain unclear. The aim of the first part of this review is to summarize the previous 35 years of the research into, and to provide a brief historical account of, SPS. The history section is focused particularly on the work of two most prominent investigators: Eberhard F. Mammen and Rodger L. Bick. The second part summarizes the present understanding of the syndrome and outlines unresolved issues and the trends in which the future research is likely to continue.

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Section: The Discovery Of Sps: From Its Initial Description To Full Cmentioning

confidence: 99%

“…Second, in several published family pedigrees, the same type of the syndrome may not be present in all members and generations within the affected family. 51 Third, additional affected relatives or descendants were not identified for all patients diagnosed with SPS and on occasion the family history might be completely negative.…”

Section: Pathophysiologymentioning

confidence: 99%

Sticky Platelet Syndrome: History and Future Perspectives

Kubisz

Ruíz‐Argüelles

Staško

et al. 2014

Semin Thromb Hemost

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“…Whilst SPS phenotype, including familiar occurrence, is clearly defined, the exact genetic cause is still not sufficiently explained [17,35].…”

Section: Sticky Platelet Syndrome (Sps) and Single-nucleotide Polymormentioning

confidence: 99%

“…Muhlfed et al [14] and El -Amm et al [15] ascribed to the syndrome a possible role for thrombotic complications and impaired functions of the graft in kidney transplantation respectively. Also, two recent family studies providing evidence for the familiar occurrence and the possible genetic background of the syndrome were reported [16,17]. During past years, several studies focused on etiology and pathogenesis of the SPS, but they failed to fully reveal the genetic basis underlying this syndrome [18][19][20][21][22][23][24].…”

Section: Introductionmentioning

confidence: 99%

Sticky Platelet Syndrome and the Role of Glycoprotein Receptors: A Review of Literature

Santimone¹

2013

J Blood Disord Transfus

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“…According to the inducer causing platelet hyperaggregation, 3 main types of SPS can be detected. The etiology of SPS remains unclear, but several gene polymorphisms have been recently studied [3,4] and an autosomal dominant heredity is suspected [5,6]. Although SPS is traditionally connected with arterial thrombosis, several cases have been reported in which SPS was a cause of venous thromboembolism [1,7–9].…”

Section: Introductionmentioning

confidence: 99%

Sticky platelets syndrome in a young patient with massive pulmonary embolism

et al. 2013

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Patient:Female, 51Final Diagnosis:Sticky platelets syndromeSymptoms:Pulmonary embolismMedication:—Clinical Procedure:ThrombolysisSpecialty:HematologyObjective:Disease of unknown ethiologyBackground:Sticky platelets syndrome (SPS) is an inherited thrombophilia characterized by platelet hyperaggregability, which can lead to the higher risk of thrombosis. The etiology of SPS remains unclear, but several gene polymorphisms have been recently studied and autosomal dominant heredity is suspected. Although SPS is traditionally connected with arterial thrombosis, several cases of SPS as a cause of venous thromboembolism have been described.Case Report:We report the case of a 51-year-old apparently healthy woman with massive pulmonary embolism, who required thrombolytic therapy. In this patient SPS was identified as the only condition leading to higher risk of developing thromboembolic disease.Conclusions:Although at present few physicians have practical experience with SPS, this syndrome may lead to serious health problems or even death. The presented case points to the benefit of SPS diagnostics in standard screening of inherited thrombophilia for effective prophylaxis and treatment in patients with venous thromboembolism.

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Nine Kindreds of Familial Sticky Platelet Syndrome Phenotype

Abstract: The exact pathogenesis of SPS is not sufficiently explained. Our findings seem to support the idea that SPS might have an autosomal dominant hereditary fashion.

Cited by 16 publications

References 21 publications

Sticky Platelet Syndrome: History and Future Perspectives

Sticky Platelet Syndrome: History and Future Perspectives

Sticky Platelet Syndrome and the Role of Glycoprotein Receptors: A Review of Literature

Sticky platelets syndrome in a young patient with massive pulmonary embolism

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