ThrombastheniaD69.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 21.06.2022

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Synonym(s)

familial hemorrhagic thrombasthenia; Glanzmann-Naegeli Syndrome; Glanzmann thrombasthenia; hereditary thrombasthenia; Hereditary thrombasthenia; thrombasthenia; Thrombasthenia familial hemorrhagic

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HistoryThis section has been translated automatically.

Glanzmann, 1918; Naegeli, 1931

DefinitionThis section has been translated automatically.

Hereditary disease with disturbed platelet aggregation at normal platelet count.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive mutations of the integrin alpha-2b gene (ITGA2B gene; gene locus: 17q21.32) and the integrin beta-3 gene (ITGB3 gene; gene locus: 17q21.32) with consecutive deficiency of platelet membrane glycoproteins IIb and IIIa and severe coagulation disorders.

ManifestationThis section has been translated automatically.

Occurring already in early childhood.

Clinical featuresThis section has been translated automatically.

Bleeding and haemorrhaging in various organs is a regular occurrence. Hemorrhages of the skin and mucous membranes, petechiae, sometimes extensive purpura, bleeding from the mouth or nasopharynx, bleeding from the nose and/or gums, melaena or hematuria are particularly common. S.a.u. purpura, idiopathic thrombocytopenic.

LaboratoryThis section has been translated automatically.

Normal platelet count as well as prolonged bleeding time and pathological platelet aggregation. Clotting time is normal. Decreased to suspended retraction.

Differential diagnosisThis section has been translated automatically.

thrombocytopathies as well as diseases with a lack of coagulation factors, e.g. Willebrand v. Jürgens disease; immunodeficiency diseases, e.g. Wiskott-Aldrich syndrome.

Complication(s)This section has been translated automatically.

Iron deficiency anemiamay occur due to chronic blood loss. In case of menorrhagia, estrogen-containing anticonceptives are required. In case of bleeding, rapid hemostasis must be initiated. If necessary, prophylactic, platelet count-adapted applications (e.g. before operations) of platelet concentrates are required.

TherapyThis section has been translated automatically.

Treatment by haematologists. Careful hemostasis in case of injury or surgery, if necessary platelet concentrates. Supportive therapy. Since the risk of bleeding cannot be foreseen, prophylactic measures are not indicated. Hepatitis vaccination.

LiteratureThis section has been translated automatically.

  1. Breddin HK (1985) Congenital thrombocytopathies. Haemostaseology 5: 17-31
  2. Caglar K et al (2003) Use of recombinant factor VIIa for bleeding in children with Glanzmann thrombasthenia. Pediatric Hematol Oncol 20: 435-438
  3. Glanzmann E (1918) Hereditary hamorrhagic thrombasthenia:
  4. A contribution to platelet pathology. J Childrenkr 88: 113-141
  5. Kannan M et al (2003) Type I Glanzmann thrombasthenia: most common subtypes in North Indians. At J Hematol 74: 139-141
  6. Naegeli D (1931) Blood diseases and blood diagnostics. SpringerVerlag, Berlin, Volume 1
  7. Nair S et al (2002) Glanzmann's thrombasthenia: updated. Platelets 13: 387-393
  8. Scharf RE (2003) Congenital and acquired platelet function disorders. Hamostaseology 23: 170-180

Authors

Last updated on: 21.06.2022

Author: Prof. Dr. med. Peter Altmeyer