Menorrhagia caused by severe hereditary factor VII deficiency

Ch. Aegerter; D. Friess; L. Alberio

doi:10.1055/s-0037-1619588

Hämostaseologie, Table of Contents

Hamostaseologie 2003; 23(03): 99-102
DOI: 10.1055/s-0037-1619588

Original Article

Schattauer GmbH

Menorrhagia caused by severe hereditary factor VII deficiency

Case 1Menorrhagie infolge eines schweren hereditären Faktor-VII-Mangels

Authors

Ch. Aegerter

¹Central Haematology Laboratory, Inselspital, University Hospital, Bern, Switzerland
D. Friess

¹Central Haematology Laboratory, Inselspital, University Hospital, Bern, Switzerland
L. Alberio

¹Central Haematology Laboratory, Inselspital, University Hospital, Bern, Switzerland

Abstract

Summary

This report describes the clinical history and laboratory findings of three sisters with severe inherited factor VII deficiency. We present current knowledge about factor VII structure and function, and discuss clinical presentation as well as management options for patients affected by factor VII deficiency.

Zusammenfassung

Der Fall von drei Schwestern mit schwerem hereditären Faktor-VII-Mangel wird vorgestellt. An diesem Beispiel werden aktuelle Kenntnisse über Struktur und Funktion des Faktor-VII-Moleküls dargestellt. Wir beschreiben die klinischen Manifestationen und Behandlungsmöglichkeiten von Patienten mit Faktor-VII-Mangel.

Keywords

Menorrhagia - FVII - FVII deficiency

Schlüsselwörter

Menorrhagie - FVII - FVII-Mangel

Full Text

References

References
1 Di Paola J, Nugent D, Young G. Current therapy for rare factor deficiencies. Haemophilia 2001; 7 (Suppl. 01) 16-22.
2 Goodnough LT, Saito H, Ratnoff OD. Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. Medicine 1983; 62: 248-55.
3 Jimenez-Yuste V, Villar A, Morado M, Canales M, Hernandez MC, Sanjurjo MJ, Quintana M, Hernandez-Navarro F. Continuous infusion of recombinant activated factor VII during caesarean section delivery in a patient with congenital factor VII deficiency. Haemophilia 2000; 6: 588-90.
4 Mariani G, Lo Coco L, Bernardi F, Pinotti M. Molecular and clinical aspects of factor VII deficiency. Blood Coagul Fibrinolysis 1998; 9 (Suppl. 01) S83-8.
5 McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. Factor VII deficiency and the factor VII mutation database. Hum Mutat 2001; 17: 3-17.
6 Morrissey JH, Macik BG, Neuenschwander PF, Comp PC. Quantitation of activated factor VII levels in plasma using a tissue factor mutant selectively deficient in promoting factor VII activation. Blood 1993; 81: 734-44.
7 Morrissey JH. Tissue factor and factor VII initiation of coagulation. In: Colman RW, Hirsh J, Marder VJ, Clowes AW, George JN. (eds). Haemostasis and thrombosis: Basic principles and clinical practice. Philadelphia: Lippincott Williams & Wilkins; 2001
8 O’Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci USA 1987; 84: 5158-62.
9 Robertson LE, Wasserstrum N, Banez E, Vasquesz M, Sears DA. Hereditary factor VII deficiency in pregnancy: peripartum treatment with factor VII concentrate. Am J Hematol 1992; 40: 38-41.
10 Zacharski LR, Delprete SA, Kisiel W, Hunt J, Cornell CJ, Marrin CA. Atherosclerosis and coronary bypass surgery in hereditary factor VII deficiency. Am J Med 1988; 84: 955-9.