Disease Information for Glanzmann's thrombasthenia

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Clinical Manifestations
Signs & Symptoms
Bleeding/excessive from mild trauma
Bruising/Ecchymosis
Excessive/easy bruising tendency
Bleeding gums
Bleeding/prolonged dental surgery
Blood in mouth/gums/throat
Epistaxis Children
Epistaxis, severe/persistent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Improves with time/growth/development
Course/Prolonged/persistent/Not progressive
Course/Subclinical presentation possible
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Bleeding time prolonged/platelet count normal (Lab)
Clot retraction absent (Lab)
Clot retraction formation/abnormal (Lab)
PFA100 (Platelet Function Assay/?) abnormal
Platelet aggregation failure/Ristocetin clumping normal (Lab)
Platelet aggregation/high ADP abnormal (Lab)
Platelet clumping failure on finger stick (Lab)
Platelet collagen aggregation/abnormality (Lab)
Abnormal Lab Findings - Decreased
Factor IX/PTC (Lab)
Platelet count (Lab)
Abnormal Lab Findings - Increased
Bleeding time, Duke (Lab)
Platelet Closure Time
Prothrombin consumption (Lab)
Thromboplastin generation time (Lab)
Associated Diseases & Rule outs
Rule Outs
Aspirin platelet defect
Bernard-Soulier syndrome
Hemophilia
Associated Disease & Complications
Bleeding complications/Surgery
Bleeding diathesis/hemorrhagic diathesis
Bleeding Tendency
Epistaxis/nosebleed
Glanzmann's thrombasthenia
Menorrhagia
Platelet manifestation/defect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Platelet disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/Glycoprotein complex iib/iiia deficiency/platelet
Pathophysiology/GP iib-iiia complex/platelet deficiency
Pathophysiology/Platelet fibrinogen receptor absence
Pathophysiology/Platelet fibrinogen receptor def/Var
Pathophysiology/Platelet glycoprotein (GP 2b/GP 3a) lack
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Hereditary platelet disorders (ex)
Synonyms
Synonym
GLANZMANN DISEASE, Glanzmann Naegeli disorder, GLANZMANN THROMBASTHENIA, Glanzmann thromboasthenia, Glanzmann's disease, Glanzmann's syndrome, Glanzmann's thrombasthenia, Glanzmann's thrombasthenia (disorder), Glanzmann's thrombosthenin disorder, Glanzsmann's disease, GLYCOPROTEIN COMPLEX IIb IIIa DEFICIENCY OF, Glycoprotein IIb IIIa defect, GP IIb IIIa COMPLEX DEFICIENCY OF, GT, Heredit haemorr thrombasthenia, Hereditary haemorrhagic thrombasthenia, Hereditary hemorrhagic thrombasthenia, Hereditary thrombasthenia, Hereditary thromboasthenia, PLATELET FIBRINOGEN RECEPTOR DEFICIENCY OF, PLATELET GLYCOPROTEIN IIb IIIa DEFICIENCY, THROMBASTHENIA, Thrombasthenia Glanzmann, Thrombasthenia hemorrhagic, Thrombasthenia hereditary, THROMBASTHENIA OF GLANZMANN AND NAEGELI, Thrombasthenias, Thromboasthenia, Thrombocytasthenia, Thrombosthenin disorder, Synonym/Diacyclothrombopathia iib-iiia, Synonym/Glanzmann disease, Synonym/Glanzmann thrombasthenia/type A, Synonym/Glanzmann-Naegeli syndrome, Synonym/GTA, Synonym/Thrombasthenia
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction; Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX)----------------------------------Glanzmann Thrombasthenia; Diacyclothrombopathia IIb-IIIa; GP IIb-IIIa Complex, Deficiency of; GTA;

Glanzmann Disease; Glanzmann Thrombasthenia; Glanzmann Thrombasthenia, Type A; Glanzmann-Naegeli Syndrome;

Glycoprotein Complex IIb/IIIa, Deficiency of; Platelet Fibrinogen Receptor Deficiency; Thrombasthenia;

Thrombasthenia of Glanzmann and Naegeli;

Glanzmann thrombasthenia (GT) is a rare inherited blood clotting (coagulation) disorder characterized by the impaired function of specialized red blood cells (platelets) that are essential for proper blood clotting; Symptoms of this disorder may include abnormal bleeding and/or hemorrhage; The symptoms are not progressive, however, prolonged untreated or unsuccessfully treated hemorrhaging associated with Glanzmann thrombasthenia may be life threatening [NORD 2005]--------------------------------------------Glanzmann"s thrombastenia

Nägeli syndrome II; Révol"s syndrome; Athrombocytopenic purpura; congenital hemorrhagic thrombocytic dystrophy; diacyclothrombopathy, glycoprotein IIb (GP IIb-III) complex deficiency; hemorrhagic thrombasthenia; hereditary thrombasthenia; hereditary thrombocytopenic purpura; platelet fibrinogen receptor deficiency; platelet glycoprotein IIb-III deficiency; thrombasthenia; thrombocytasthenia; thrombocytopathic purpura;

A rare congenital abnormality of blood platelets, characterized by easy bruising and excessive bleeding after trauma and epistaxis; The platelet membrane lacks specific glycoproteins Iib and IIIa which are the receptor of fibrinogen; Bleeding is prologed, clot retraction is diminished, and platelets do not aggregate during blood coagulation or after addition of ADP (adenosine diphosphate); Inheritance is mostly autosomal recessive, but some cases are known to be transmitted as an autosomal dominant trait; An acquired form is seen particularly in malignant systemic diseases and uraemia; Both sexes affected; onset from birth; May be asymptomatic until trauma or surgical procedures make condition evident;--------------------[whonamedit_com 2005]---------

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NEJM (The New England Journal of Medicine)
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