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Ryoikibetsu Shokogun Shirizu 1998
Review
Topics: Amino Acid Sequence; Blood Platelet Disorders; Genes, Dominant; Humans; Molecular Sequence Data; Receptors, Thromboxane; Thromboxane A2
PubMed: 9833515
DOI: No ID Found -
Current Opinion in Hematology Sep 2003Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this... (Review)
Review
Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used in clinical practice to manage these conditions.
Topics: Blood Coagulation Disorders, Inherited; Blood Platelet Disorders; Female; Humans; Male; Thrombocytopenia
PubMed: 12913791
DOI: 10.1097/00062752-200309000-00007 -
Haemophilia : the Official Journal of... Jul 2012Inherited diseases of the megakaryocyte lineage give rise to bleeding when platelets fail to fulfill their hemostatic function upon vessel injury. Platelet defects... (Review)
Review
Inherited diseases of the megakaryocyte lineage give rise to bleeding when platelets fail to fulfill their hemostatic function upon vessel injury. Platelet defects extend from the absence or malfunctioning of adhesion (GPIb-IX-V, Bernard-Soulier syndrome) or aggregation receptors (integrin αIIbβ3, Glanzmann thrombasthenia) to defects of primary receptors for soluble agonists, secretion from storage organelles, activation pathways and the generation of procoagulant activity. In disorders such as the Chediak-Higashi, Hermansky-Pudlak, Wiskott-Aldrich and Scott syndromes the molecular lesion extends to other cells. In familial thrombocytopenia (FT), platelets are produced in insufficient numbers to assure hemostasis. Some FT affect platelet morphology and give rise to the 'giant platelet' syndromes (e.g. MYH9-related diseases) with changes in megakaryocyte maturation within the bone marrow and premature release of platelets. Diseases of platelet production may also affect other cells and in some cases interfere with development and/or functioning of major organs. Diagnosis of platelet disorders requires platelet function testing, studies often aided by the quantitative analysis of receptors by flow cytometry and fluorescence and electron microscopy. New generation DNA-based procedures including whole exome sequencing offer an exciting new perspective. Transfusion of platelets remains the most common treatment of severe bleeding, management with desmopressin is often used for mild disorders. Substitute therapies are available including rFVIIa and the potential use of thrombopoietin analogues for FT. Stem cell or bone marrow transplantation has been successful for several diseases while gene therapy shows promise in the Wiskott-Aldrich syndrome.
Topics: Blood Coagulation Disorders, Inherited; Blood Platelet Disorders; Humans; Platelet Membrane Glycoproteins; Signal Transduction
PubMed: 22726100
DOI: 10.1111/j.1365-2516.2012.02856.x -
Hematology (Amsterdam, Netherlands) Jul 2013The sticky platelets syndrome (SPS) is a procoagulant condition based on either arterial, venous, or capillary thrombi caused by hyperesponsive and hyperaggregable... (Review)
Review
The sticky platelets syndrome (SPS) is a procoagulant condition based on either arterial, venous, or capillary thrombi caused by hyperesponsive and hyperaggregable platelets. This is a frequent disease, which often remains clinically inapparent, until stressful events or combination with other factors increase the risk of developing SPS. The condition is due to a congenital platelet defect with autosomal dominant characteristics, leading to the increased platelet aggregability when they are challenged with epinephrine and adenosine diphosphate. Nowadays classification of this disorder is based on platelet reactivity to both ADP and epinephrine (SPS type 1), epinephrine alone (SPS type 2), and ADP alone (SPS type 3). The diagnoses of the syndrome depend on the functional aggregometer assay. This condition should be taken into account whenever a patient with thrombophilia is considered.
Topics: Blood Platelet Disorders; Blood Platelets; Humans; Platelet Aggregation; Syndrome; Thrombophilia
PubMed: 23433500
DOI: 10.1179/1607845412Y.0000000068 -
Hamostaseologie Dec 2021Inherited platelet disorders (IPDs) are a group of rare conditions featured by reduced circulating platelets and/or impaired platelet function causing variable bleeding... (Review)
Review
Inherited platelet disorders (IPDs) are a group of rare conditions featured by reduced circulating platelets and/or impaired platelet function causing variable bleeding tendency. Additional hematological or non hematological features, which can be congenital or acquired, distinctively mark the clinical picture of a subgroup of patients. Recognizing an IPD is challenging, and diagnostic delay or mistakes are frequent. Despite the increasing availability of next-generation sequencing, a careful phenotyping of suspected patients-concerning the general clinical features, platelet morphology, and function-is still demanded. The cornerstones of IPD diagnosis are clinical evaluation, laboratory characterization, and genetic testing. Achieving a diagnosis of IPD is desirable for several reasons, including the possibility of tailored therapeutic strategies and individual follow-up programs. However, detailed investigations can also open complex scenarios raising ethical issues in case of IPDs predisposing to hematological malignancies. This review offers an overview of IPD diagnostic workup, from the interview with the proband to the molecular confirmation of the suspected disorder. The main implications of an IPD diagnosis are also discussed.
Topics: Blood Platelet Disorders; Blood Platelets; Delayed Diagnosis; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans
PubMed: 34391210
DOI: 10.1055/a-1515-0813 -
The Veterinary Clinics of North... Jan 1988Thrombocytopenia may be caused by abnormal platelet production, accelerated removal owing to immunologic or nonimmunologic reasons, or sequestration of platelets in the... (Review)
Review
Thrombocytopenia may be caused by abnormal platelet production, accelerated removal owing to immunologic or nonimmunologic reasons, or sequestration of platelets in the spleen. Bleeding associated with thrombocytopenia usually presents as petechial or ecchymotic hemorrhages or epistaxis. Immunologic and nonimmunologic cases of thrombocytopenia may be diagnosed with routine hematology, bone marrow cytology, and platelet specific tests. Thrombocythemia may also be associated with platelet functional abnormalities, contrasting the normal platelet function noted in reactive thrombocytosis.
Topics: Animals; Blood Platelet Disorders; Blood Platelets; Cat Diseases; Cats; Dog Diseases; Dogs; Hematopoiesis; Platelet Count; Platelet Function Tests; Thrombocythemia, Essential; Thrombocytopenia; Thrombocytosis
PubMed: 3282383
DOI: 10.1016/s0195-5616(88)50005-0 -
Blood Reviews Mar 1988Congenital platelet disorders include thrombocytopathies and thrombocytopenias, which often occur in association. Thrombocytopathies constitute a model for exploring... (Review)
Review
Congenital platelet disorders include thrombocytopathies and thrombocytopenias, which often occur in association. Thrombocytopathies constitute a model for exploring platelet physiology at the molecular level: adhesion, activation, release phenomena, aggregation. Further advances in understanding thrombocytopenias now require studies of medullary physiology. A better knowledge of these disorders is necessary to improve their management.
Topics: Blood Platelet Disorders; Humans
PubMed: 3289650
DOI: 10.1016/0268-960x(88)90004-5 -
Acta Haematologica 1983
Topics: Amiodarone; Benzofurans; Blood Platelet Disorders; Humans; Male; Middle Aged; Platelet Aggregation
PubMed: 6408870
DOI: 10.1159/000206692 -
Transfusion Aug 2022
Review
Topics: Blood Platelet Disorders; Blood Platelets; Hemostasis; Humans; Platelet Transfusion
PubMed: 35748694
DOI: 10.1111/trf.16971 -
Pediatric Clinics of North America Jun 2018Mucocutaneous bleeding symptoms and/or persistent thrombocytopenia occur in individuals with congenital disorders of platelet function and number. Apart from bleeding,... (Review)
Review
Mucocutaneous bleeding symptoms and/or persistent thrombocytopenia occur in individuals with congenital disorders of platelet function and number. Apart from bleeding, these disorders are often associated with additional hematologic and clinical manifestations, including auditory, immunologic, and oncologic disease. Autosomal recessive, dominant, and X-linked inheritance patterns have been demonstrated. Precise delineation of the molecular cause of the platelet disorder can aid the pediatrician in the detection and prevention of specific disorder-associated manifestations and guide appropriate treatment and anticipatory care for the patient and family.
Topics: Blood Coagulation Disorders, Inherited; Blood Platelet Disorders; Humans; Thrombocytopenia
PubMed: 29803283
DOI: 10.1016/j.pcl.2018.02.009