Very low activated factor VII and reduced factor VII antigen in familial abetalipoproteinaemia.
Abetalipoproteinaemia is a rare disorder of apolipoprotein B metabolism associated with extremely low plasma concentrations of triglyceride. 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 micromol/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.
Medical Research Council Epidemiology and Medical Care Unit, London, England. g.miller@mdr.qmw.ac.uk
G J
GJ
Miller
K A
KA
Mitropoulos
M N
MN
Nanjee
D J
DJ
Howarth
J C
JC
Martin
M P
MP
Esnouf
B E
BE
Reeves
N E
NE
Miller
J A
JA
Cooper
D000012:Abetalipoproteinemia / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D000328:Adult; D000941:Antigens / Q000097:blood*; D001779:Blood Coagulation Factors / Q000378:metabolism; D016022:Case-Control Studies; D005167:Factor VII / Q000276:immunology*; D015942:Factor VIIa / Q000378:metabolism*; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male
D000941:Antigens; D001779:Blood Coagulation Factors; D005230:Fatty Acids, Nonesterified; D005167:Factor VII; D015942:Factor VIIa