Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency

Thrombosis and Haemostasis

Volumn 109, Issue 6, 2013, Pages 1051-1059

  Di Minno, Matteo Nicola Dario ^a   Dolce, Alberto ^b   Mariani, Guglielmo ^c  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b ITALIAN NATIONAL INSTITUTE OF STATISTICS   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

Author keywords

Asymptomatic individuals; Factor VII deficiency; Major bleeds; Minor bleeds

Indexed keywords

BLOOD CLOTTING FACTOR 7;

ADOLESCENT; ADULT; ARTICLE; ASYMPTOMATIC DISEASE; BLEEDING; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BRAIN HEMORRHAGE; CHILD; CLINICAL TRIAL (TOPIC); DISEASE FREE SURVIVAL; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GASTROINTESTINAL SYMPTOM; HEMARTHROSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; CLINICAL TRIALS AS TOPIC; FACTOR VII; FACTOR VII DEFICIENCY; FEMALE; HEMORRHAGE; HUMANS; INFANT; INTERNATIONAL COOPERATION; MALE; MIDDLE AGED; MODELS, STATISTICAL; PHENOTYPE; QUALITY CONTROL; REGISTRIES; RETROSPECTIVE STUDIES; RISK; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84878624223     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-10-0740     Document Type: Article

References (29)

1. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-1252.
2. Mariani G, Bernardi F. Factor VII Deficiency. Semin Thromb Hemost 2009; 35: 400-406.
3. Perry DJ. Factor VII Deficiency. Br J Haematol 2002; 118: 689-700.
4. Borhany M, Pahore Z, Ul Qadr Z, et al. Bleeding disorders in the tribe: result of consanguineous in breeding. Orphanet J Rare Dis 2010; 5: 23.
5. Mariani G, Herrmann FH, Dolce A, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005; 93: 481-487.
6. Giansily-Blaizot M, Biron-Andreani C, Aguilar-Martinez P, et al. Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding. Br J Haematol 2002; 117: 172-175.
7. Rodeghiero F, Castaman G, Tosetto A, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost 2005; 3: 2619-2626.
8. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006; 4: 766-773.
9. Mariani G, Dolce A, Batorova A, et al. Recombinant, activated factor VII for surgery in factor VII deficiency: a prospective evaluation - the surgical STER. Br J Haematol 2011; 152: 340-346.
10. Mariani G, Herrmann FH, Bernardi F, et al. Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7). Blood 2000; 96: 374.
11. Mariani G, Herrmann FH, Schulman S, et al. Thrombosis in inherited factor VII deficiency. J Thromb Haemost 2003; 1: 2153-2158.
12. Ingerslev J, Christiansen K, Sorensen B. Inhibitor to factor VII in severe factor VII deficiency: detection and course of the inhibitory response. J Thromb Hae-most 2005; 3: 799-800.
13. Bernardi F, Dolce A, Pinotti M, et al. Major differences in bleeding symptoms between factor VII deficiency and hemophilia B. J Thromb Haemost 2009; 7: 774-779.
14. Bernardi F, Arcieri P, Bertina RM, et al. Contribution of factor VII genotype to activated FVII levels. Differences in genotype frequencies between northern and southern European populations. Arterioscler Thromb Vasc Biol 1997; 17: 2548-2553.
15. Mariani G, Mazzucconi MG, Hermans J, et al. Factor VII deficiency: immuno-logical characterization of genetic variants and detection of carriers. Br J Hae-matol 1981; 48: 7-14.
16. Mariani G, Mazzucconi MG. Factor VII congenital deficiency. Clinical picture and classification of the variants. Haemostasis 1983; 13: 169-177.
17. Roberts HR, Escobar MA. Inherited disorders of prothrombin conversion. In: Hemostasis and Thrombosis: basic principles and clinical practice. Lippincott Williams & Wilkins. Fifth Edition. 2006.
18. Ragni M V, Lewis JH, Spero JA, et al. Factor VII deficiency. Am J Hematol 1981; 10: 79-88.
19. Peyvandi F, Palla R, Menegatti M, et al. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost 2009; 35: 349-355.
20. Peyvandi F, Palla R, Menegatti M, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European network of rare bleeding disorders. J Thromb Haemost 2012; 10: 615-621.
21. Siboni SM, Zanon E, Sottilotta G, et al. Central nervous system bleeding in patients with rare bleeding disorders. Haemophilia 2012; 18: 34-38.
22. Mariani G, Dolce A, Napolitano M, et al. Invasive procedures and minor surgery in factor VII deficiency. Haemophilia 2012; 18: e63-65.
23. Tosetto A, Castaman G, Rodeghiero F. Bleeding scores in inherited bleeding disorders: clinical or research tools? Haemophilia 2008; 14: 415-422.
24. Tosetto A, Castaman G, Rodeghiero F. Evidence-based diagnosis of type 1 von Willebrand disease: a Bayes theorem approach. Blood 2008; 111: 3998-4003.
25. Rodeghiero F, Tosetto A, Abshire T, et al.; ISTH/SSC joint VWF and Perinatal/ Pediatric Hemostasis Subcommittees Working Group. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 2010; 8: 2063-2065.
26. Schulman S, Kearon C; Subcommittee on Control of Anticoagulation of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Definition of major bleeding in clinical investigations of antihemostatic medicinal products in non-surgical patients. J Thromb Haemost 2005; 3: 692-694.
27. Napolitano M, Giansily-Blaizot M, Dolce A, et al. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER). Haematologica 2013; Epub ahead of print.
28. Mariani G, Napolitano M, Dolce A, et al., On behalf of the Seven Treatment Evaluation Registry (STER) and the International Factor VII Deficiency Study Groups. Replacement therapy for bleeding episodes in factor VII deficiency. A prospective evaluation. Thromb Haemost 2013; 109: 238-247.
29. Bernardi F, Marchetti G, Dolce A, et al. How to evaluate phenotype-genotype relationship in rare coagulation haemorrhagic disorders: examples from FVII deficiency. Haemophilia 2004; 10 (Suppl 4): 177-179.