Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease

Blood Coagulation and Fibrinolysis

Volumn 25, Issue 4, 2014, Pages 401-404

  Pontara, Elena ^a   Gresele, Paolo ^b   Cattini, Maria Grazia ^a   Daidone, Viviana ^a   Barbon, Giovanni ^a   Girolami, Antonio ^a   Zanon, Ezio ^a   Casonato, Alessandra ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSITY OF PERUGIA   (Italy)

Author keywords

Glanzmann thromboasthenia; type 2N von Willebrand disease; von Willebrand factor; von Willebrand factor:FVIIIB

Indexed keywords

VON WILLEBRAND FACTOR;

ADULT; ARTICLE; BLEEDING; CASE REPORT; EPISTAXIS; FEMALE; GENE; GENE MUTATION; GLANZMANN DISEASE; HEMARTHROSIS; HEMOPHILIA; HEMOSTASIS; HETEROZYGOTE; HUMAN; MENORRHAGIA; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCORING SYSTEM; SKIN BRUISING; TOOTH EXTRACTION; TYPE 2N VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE; BLOOD;

FEMALE; HEMARTHROSIS; HUMANS; MIDDLE AGED; THROMBASTHENIA; VON WILLEBRAND DISEASE, TYPE 2;

EID: 84900453917     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0000000000000067     Document Type: Article

References (19)

1. Glanzman n E. Hereditare Hamorrhagische Thromboasthenic. Ein Beitrag zur Pathologie Der Blutplattchen. [Inherited haemorrhagic thrombasthenia]. Jarbuch Der Kinderheikunde 1918; 88:1-42
2. Larrieu MJ, Caen JP, Meyer DO, Vainer H, Sultan Y, Bernard J. Congenital bleeding disorders with long bleeding time and normal platelet count. II. Von Willebrand's disease (report of thirty-seven patients). Am J Med 1968; 45:354-372
3. Phillips DR, Jenkins CS, Luscher EF, Larrieu M. Molecular differences of exposed surface proteins on thrombasthenic platelet plasma membranes. Nature 1975; 257:599-600
4. Ruggeri Z M. Structure of Von Willebrand factor and its function in platelet adhesion and thrombus formation. Best Pract Res Clin Haematol 2001; 14:257-279
5. Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L, et al., Working Party on Von Willebrand Disease Classification. Update on the pathophysiology and classification of Von Willebrand disease: A report of the Subcommittee on Von Willebrand factor. J Thromb Haemost 2006; 4:2103-2114
6. Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A novel Von Willebrand factor (vWF) defect in patient with factor VIII (FVIII) deficiency but with normal levels and m ultimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. Blood 1990; 75:20-26
7. Casonato A, Pontara E, Sartorello F, Gemmati D, Cattini MG, Girolami A. Combined haemophilia A and type 2N Von Willebrand disease: Defect of both factor VIII level and FVIII binding capacity of Von Willebrand fact or. Haematologica 2001; 86:1110-1111
8. George JN, Caen JP, Nurden AT. Glanzmann's thromboasthenia: The spectrum of clinical disease. Blood 1990; 75:1383-1395
9. Casonato A, Pontara E, Zerbinati P, Zucchetto A, Girolami A. The evaluation of FVIII binding activity of Von Willebrand factor by means of an ELISA method: Significance and clinical implications. Am J Clin Pathol 1998; 109:347-352
10. Casonato A, Sartorello F, Cattini MG, Pontara E, Soldera C, Bertomoro A, et al. An Arg760Cys in the consensus sequence of Von Willebrand factor propeptide cleavage site is resp onsible for a new Von Willebrand disease variant. Blood 2003; 101:151-156
11. Bowman M, MundellG, Grabell J, Hopman WM, Rapson D, Lillicrap D, et al. Generation and validation of the Cond ensed MCMDM-1VWD Bleeding Questionnaire for Von Willebrand disease. J Thromb Haemost 2008; 6:2062-2066
12. Lundin B, Babyn P, Doria AS, Kilcoyne R, Ljung R, Miller S, et al. Compatibl e scales for progressive and additive MRI assessments of haemophilic arthropathy. Haemophilia 2005; 6:658-663
13. Doria AS, Babyn S, Lundin B, Kilcoyne RF, Miller S, Rivard GE, et al. Reliability and construct validity of the compatible MRI scoring system for evaluation of haemophilic knees and ankles of haemophilic children. Expert MRI working group of the International Prophylaxis Study Group. Haemophilia 2006; 12:503-513
14. Casonato A, Pontara E, Sartorello F, Cattini MG, Perutelli P, Bertomoro A, et al. Identifying carriers of type 2N Von Willebrand disease: Procedures and significance. Clin Appl Thromb H emost 2007; 13:194-200
15. Klofkorn R, Lightsey A. Hemarthrosis associated with Glanzmann's thromboasthenia. Arthritis Rheum 1979; 22:1390-1393
16. Urakawa H Nishida Y Tsukushi S Katsumi A Ishiguro N. Glanzmann thromboasthenia detected because of knee hemarthrosis: A case report. J Ped Orthop 2010 19 521-523
17. Casonato A, Daidone V, Barb on G, Pontara E, Di Pasquale I, Gallinaro L, et al. A common ancestor more than 10000 years old for patients with R854Q-related type 2N Von Willebrand's disease in Italy. Haematologica 2013; 98:147-152
18. Ahmad F, Kannan M, Kishor K, Saxena R. Coinheritance of severe Von Willebrand disease with Glanzmann thromboasthenia. Clin Appl Thromb/Haemost 2010; 16:529-532
19. Nounou R, Spence D. Glanzmann's thromboasthenia with Von Willebrand's disease. J Clin Pathol 1993; 46:1134-1136.