Approach to the Patient with an Inherited Bleeding Disorder

Inherited Bleeding Disorders in Women

Volumn , Issue , 2009, Pages 1-11

  Kouides, Peter A ^a   Philipp, Clare ^b  

^a ROCHESTER GENERAL HOSPITAL   (United States)

^b ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

Approach to a female who has a "positive" bleeding history; Approach to patient with inherited bleeding disorder; Bleeding inherited platelet disorders and von Willebrand disease; Bleeding and inherited coagulation factor deficiencies; Bleeding time (BT) and platelet function analyzer 100 closure time (CT); Platelet aggregation and release studies; Testing and oral contraceptive use

Indexed keywords

EID: 84862790209     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444303490.ch1     Document Type: Chapter

References (69)

1. Hoffman M, Monroe DM, III. A cell-based model of hemostasis. Thromb Haemost 2001; 85: 958-965.
2. Hoffman M, Monroe DM. Coagulation 2006: a modern view of hemostasis. Hematol Oncol Clin North Am 2007; 21: 1-11.
3. Tsai HM. Shear stress and von Willebrand factor in health and disease. Semin Thromb Hemost 2003; 29: 479-488.
4. Sadler JE, Budde U, Eikenboom JC, et al. 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.
5. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007; 109: 145-154.
6. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-121.
7. James PD, Paterson AD, Notley C, et al. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost 2006; 4: 783-792.
8. Gill JC, Endres-Brooks J, Bauer PJ, et al. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-1695.
9. Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood 2003; 101: 2089-2093.
10. Sramek A, Eikenboom JC, Briet E, et al. Usefulness of patient interview in bleeding disorders [see comments]. Arch Intern Med 1995; 155: 1409-1415.
11. Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH, et al. Bleeding in carriers of hemophilia. Blood 2006; 108: 52-56.
12. Eikenboom JC, Rosendaal FR, Briet E. Value of the patient interview: all but consensus among haemostasis experts. Haemostasis 1992; 22: 221-223.
13. 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.
14. 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.
15. Rodeghiero F, Tosetto A, Castaman G. How to estimate bleeding risk in mild bleeding disorders. J Thromb Haemost 2007; 5 (Suppl 1): 157-166.
16. Miller CH, Heit J, Kouides PA, et al. Laboratory characteristics of women with menorrhagia participating in a multi-site United States Menorrhagia Management Study [Abstract]. J Thromb Haemost 2007.
17. Kouides PA, Kadir RA. Menorrhagia associated with laboratory abnormalities of hemostasis: epidemiological, diagnostic and therapeutic aspects. J Thromb Haemost 2007; 5 (Suppl 1): 175-182.
18. James AH, Ragni MV, Picozzi VJ. Bleeding disorders in premenopausal women: (another) public health crisis for hematology?. Hematol Am Soc Hematol Educ Program 2006; 474-485.
19. Philipp CS, Faiz A, Dowling N, et al. Development of a screening tool in women presenting with unexplained menorrhagia. Am J Obstet Gynecol 2007; 198: e1-e8.
20. Chi C, Riddell A, Griffioen A, et al. Bleeding score as screening tool for the identification and assessment of von Willebrand disease in women [Abstract]. Thromb Res 2007; 119 (Suppl 1): S101.
21. Philipp CS, Dilley A, Miller CH, et al. Platelet functional defects in women with unexplained menorrhagia. J Thromb Haemost 2003; 1: 477-484.
22. Shankar M, Lee CA, Sabin CA, et al. von Willebrand disease in women with menorrhagia: a systematic review. Br J Obstet Gynaecol 2004; 111: 734-740.
23. von Willebrand EA. Hereditar pseudohemofili. Finska Lakarsallskapets Handl 1926; 67: 7-112.
24. Kouides PA, Burkhart P, Phatak P, et al. Gynecological and obstetrical morbidity in women with Type I von Willebrand disease: results of a patient survey. Haemophilia 2000; 6: 643-648.
25. Kadir RA, Economides DL, Sabin CA, et al. Assessment of menstrual blood loss and gynaecological problems in patients with inherited bleeding disorders. Haemophilia 1999; 5: 40-48.
26. Ragni MV, Bontempo FA, Cortese Hassett A. von Willebrand disease and bleeding in women. Haemophilia 1999; 5: 313-317.
27. Fraser IS, McCarron G, Markham R. A preliminary study of factors influencing perception of menstrual blood loss volume. Am J Obstet Gynecol 1984; 149: 788-793.
28. Warner PE, Critchley HO, Lumsden MA, et al. Menorrhagia I: measured blood loss, clinical features, and outcome in women with heavy periods: a survey with follow-up data. Am J Obstet Gynecol 2004; 190: 1216-1223.
29. Higham JM, O'Brien PM, Shaw RW. Assessment of menstrual blood loss using a pictorial chart. Br J Obstet Gynaecol 1990; 97: 734-739.
30. Hallberg L, Hogdahl AM, Nilsson L, Rybo G. Menstrual blood loss and iron deficiency. Acta Med Scand 1966; 180: 639-650.
31. James AH, Jamison MG. Bleeding events and other complications during pregnancy and childbirth in women with von Willebrand disease. J Thromb Haemost 2007; 5: 1165-1169.
32. Eisen D, Hakim MD. Minocycline-induced pigmentation. Incidence, prevention and management. [Review]. Drug Safety 1998; 18: 431-440.
33. Kirtava A, Drews C, Lally C, et al. Medical, reproductive and psychosocial experiences of women diagnosed with von Willebrand's disease receiving care in haemophilia treatment centres: a case-control study. Haemophilia 2003; 9: 292-297.
34. James AH. More than menorrhagia: a review of the obstetric and gynaecological manifestations of bleeding disorders. Haemophilia 2005; 11: 295-307.
35. Fricke W, Kouides P, Kessler C, et al. A multicenter clinical evaluation of the Clot Signature Analyzer. J Thromb Haemost 2004; 2: 763-768.
36. Montgomery RR, Coller BS. von Willebrand disease. In: Colman RW, Hirsh J, Marder VJ, Salzman EW (eds). Hemostasis and thrombosis: basic principles and practice. Philadelphia, PA: JB Lippincott Co, 1994: 134-168.
37. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-1252.
38. Edlund M, Blomback M, von Schoultz B, Andersson O. On the value of menorrhagia as a predictor for coagulation disorders. Am J Hematol 1996; 53: 234-238.
39. Kadir RA, Economides DL, Sabin CA, et al. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 1998; 351: 485-489.
40. Dilley A, Drews C, Miller C, et al. von Willebrand disease and other inherited bleeding disorders in women with diagnosed menorrhagia. Obstet Gynecol 2001; 97: 630-636.
41. Woo YL, White B, Corbally R, et al. von Willebrand's disease: an important cause of dysfunctional uterine bleeding. Blood Coagul Fibrinolys 2002; 13: 89-93.
42. Federici AB. The factor VIII/von Willebrand factor complex: basic and clinical issues [Review]. Haematologica 2003; 88: EREP02.
43. Lipton RA. Misdiagnosis by milk box. Haemophilia 2003; 9: 235.
44. Bohm M, Taschner S, Kretzschmar E, et al. Cold storage of citrated whole blood induces drastic time dependent losses in factor VIII and von Willebrand factor: potential for misdiagnosis of haemophilia and von Willebrand disease. Blood Coagul Fibrinolys 2006; 17: 39-46.
45. Federici AB. Mild forms of von Willebrand disease: diagnosis and management. Curr Hematol Rep 2003; 2: 373-380.
46. Mandalaki T, Louizou C, Dimitriadou C, Symeonidis P. Variations in factor VIII during the menstrual cycle in normal women [Letter]. N Engl J Med 1980; 302: 1093-1094.
47. Blomback M, Eneroth P, Landgren BM, et al. On the intraindividual and gender variability of haemostatic components. Thromb Haemost 1992; 67: 70-75.
48. Alperin JB. Estrogens and surgery in women with von Willebrand's disease. Am J Med 1982; 73: 367-371.
49. Nitu-Whalley IC, Lee CA, Griffioen A, et al. Type 1 von Willebrand disease -a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history. Br J Haematol 2000; 108: 259-264.
50. Bauduer F, Ducout L. Is the assessment of von Willebrand disease prevalence an achievable challenge?. The example of the French Basque Country where blood group O and factor XI deficiency are highly prevalent. J Thromb Haemost 2004; 2: 1724-1726.
51. Sadler JE. Slippery criteria for von Willebrand disease type 1. J Thromb Haemost 2004; 2: 1720-1723.
52. Nichols WL, Hultin MB, James AH, et al. Von Willebrand Disease Guidelines [Personal communication]. 2007.
53. Coccia MR, Barnes HV. Hypothyroidism and acquired von Willebrand disease. J Adolesc Health 1991; 12: 152-154.
54. Blesing NE, Hambley H, McDonald GA. Acquired von Willebrand's disease and hypothyroidism: report of a case presenting with menorrhagia. Postgrad Med J 1990; 66: 474-476.
55. Michiels JJ, Schroyens W, Berneman Z, Van der Planken M. Acquired von Willebrand syndrome type 1 in hypothyroidism: reversal after treatment with thyroxine. Clin Appl Thromb Hemost 2001; 7: 113-115.
56. Posan E, Nichols WL, McBane RD, et al. Comparison of the PFA-100 testing and the bleeding time for detecting platelet hypofunction and von Willebrand disease. J Thromb Haemost 2003; 90: 483-490.
57. Quiroga T, Goycoolea M, Munoz B, et al. Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages: comparative study in 148 patients. J Thromb Haemost 2004; 2: 892-898.
58. Philipp CS, Miller CH, Faiz A, et al. Screening women with menorrhagia for underlying bleeding disorders: the utility of the platelet function analyser and bleeding time. Haemophilia 2005; 11: 497-503.
59. Koscielny J, von Tempelhoff GF, Ziemer S, et al. A practical concept for preoperative management of patients with impaired primary hemostasis. Clin Appl Thromb Hemost 2004; 10: 155-166.
60. Bick RL. Platelet function defects: a clinical review [Review]. Semin Thromb Hemost 1992; 18: 167-185.
61. DiMichele DM, Hathaway WE. Use of DDAVP in inherited and acquired platelet dysfunction. Am J Hematol 1990; 33: 39-45.
62. Rose SS, Faiz A, Miller CH, et al. Laboratory response to intranasal desmopressin in women with menorrhagia and platelet dysfunction. Haemophilia 2008; 14: 571-578.
63. Smith AA, Jacobson LJ, Miller BI, et al. A new euglobulin clot lysis assay for global fibrinolysis. Thromb Res 2003; 112: 329-337.
64. Hahn L, Cederblad G, Rybo G, et al. Blood coagulation, fibrinolysis and plasma proteins in women with normal and with excessive menstrual blood loss. Br J Obstet Gynaecol 1976; 83: 974-980.
65. Winkler UH. Menstruation: extravascular fibrinolytic activity and reduced fibrinolytic capacity. Ann NY Acad Sci 1992; 667: 289-290.
66. Edlund M, Blomback M, He L. On the correlation between local fibrinolytic activity in menstrual fluid and total blood loss during menstruation and effects of desmopressin. Blood Coagul Fibrin 2003; 14: 593-598.
67. Repine T, Osswald M. Menorrhagia due to a qualitative deficiency of plasminogen activator inhibitor-1: case report and literature review. Clin Appl Thromb Hemost 2004; 10: 293-296.
68. Fay WP, Parker AC, Condrey LR, Shapiro AD. Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. Blood 1997; 90: 204-208.
69. Favier R, Aoki N, de Moerloose P. Congenital alpha(2)- plasmin inhibitor deficiencies: a review. Br J Haematol 2001; 114: 4-10.