Very Low Activated Factor VII and Reduced Factor VII Antigen in Familial Abetalipoproteinaemia

G. J. Miller; K. A. Mitropoulos; M. N. Nanjee; D. J. Howarth; J. C. Martin; M. P. Esnouf; B. E. A. Reeves; N. E. Miller; J. A. Cooper

doi:10.1055/s-0037-1615179

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1998; 80(02): 233-238
DOI: 10.1055/s-0037-1615179

Rapid Communication

Schattauer GmbH

Very Low Activated Factor VII and Reduced Factor VII Antigen in Familial Abetalipoproteinaemia

Autor*innen

G. J. Miller

¹Medical Research Council Epidemiology and Medical Care Unit, London, England
K. A. Mitropoulos

¹Medical Research Council Epidemiology and Medical Care Unit, London, England
M. N. Nanjee

²Department of Cardiovascular Biochemistry, St Bartholomew’s and the Royal London School of Medicine and Dentistry, London, England
D. J. Howarth

¹Medical Research Council Epidemiology and Medical Care Unit, London, England
J. C. Martin

¹Medical Research Council Epidemiology and Medical Care Unit, London, England
M. P. Esnouf

³Nuffield Department of Clinical Biochemistry, Radcliffe Infirmary, Oxford, England
B. E. A. Reeves

¹Medical Research Council Epidemiology and Medical Care Unit, London, England
N. E. Miller

²Department of Cardiovascular Biochemistry, St Bartholomew’s and the Royal London School of Medicine and Dentistry, London, England
J. A. Cooper

¹Medical Research Council Epidemiology and Medical Care Unit, London, England

Abstract

Summary

Abetalipoproteinaemia is a rare disorder of apolipoprotein B metabolism associated with extremely low plasma concentrations of triglyce-ride. To discover whether the general positive association between factor VII and triglyceride levels extends to this condition, 5 patients were compared with 18 controls. All patients had a triglyceride below 100 μmol/l. Plasma unesterified fatty acid concentration was normal. Although factor IX activity was only slightly reduced (mean 88% standard) and factor IX antigen was normal, mean activated factor VII in patients was strikingly reduced to 34% of that in controls, a level similar to that found in haemophilia B. The patients’ mean factor VII activity and factor VII antigen were also significantly reduced to 54% and 63% of those in controls, respectively. Mean factor XI activity and tissue factor pathway inhibitor activity were reduced in patients to 70% and 75% of control values respectively, while factor XII, factor XI antigen, factor X, prothrombin and protein C were normal.

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Referenzen

References
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