Læknablaðið - 15.07.1997, Blaðsíða 25
LÆKNABLAÐIÐ 1997; 83
491
meðferð með getnaðarvarnartöflum. Ekki
liggja fyrir framskyggnar rannsóknir sem sanna
hvort slík rannsókn eigi rétt á sér en að áliti
höfunda þessarar greinar ber að skima fyrir
stökkbreytingunni ef saga er um segamyndun
hjá viðkomandi einstaklingi eða ef ættarsaga er
um segamyndun (26). Skimun getur ýmist
verið gerð með mælingu á aPC-viðnámi eða
arfgerðargreiningu (27). Það er einnig álit höf-
unda að fyrirbyggjandi blóðþynning sé æskileg
fyrir meiriháttar skurðaðgerðir hjá arfhreinum
einstaklingum svo og arfblendnum einstakling-
um sem hafa sögu um bláæðasega.
Þakkir
Vísindasjóður Sjúkrahúss Reykjavíkur fær
þakkir fyrir fjárhagslegan stuðning. Starfsfólk
Blóðbanka íslands fær einnig þakkir fyrir að-
stoð við söfnun sýna.
HEIMILDIR
1. Goldhaber SZ. Epidemiology of pulmonary embolism
and deep vein thrombosis. In: Bloom AL, Forbes CD,
Thomas DP, Tuddenham EGD, eds. Haemostasis and
Thrombosis. Edinburgh: Churchill Livingstone, 1994:
1327-33.
2. Furie B, Furie BC. The molecular basis of blood coag-
ulation. Cell 1988; 33: 505-18.
3. Davie EW, Fujikawa K. Kisiel W. The coagulation cas-
cade: initiation, maintenance, and regulation. Biochem-
istry 1991; 30: 10363-70.
4. Esmon CT. The roles of protein C and thrombomodulin
in the regulation of blood coagulation. J Biol Chem
1989; 264: 4743-6.
5. Dahlback B, Stenflo J. The protein C anticoagulation
system. In: Stamatoyanopoulos G, Nienhuis AW, Maje-
rus PW, Varmus H. eds. The molecular basis of blood
diseases. 2nd ed. Philadelphia: WB Saunders 1994: 599-
627.
6. Dahlback B, Carlsson M, Svensson PJ. Familial throm-
bophilia due to a previously unrecognized mechanism
characterized by poor anticoagulant response to activa-
ted protein C: prediction of a cofactor to activated pro-
tein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
7. Svensson PJ. Dahlback B. Resistance to activated pro-
tein C as a basis for venous thrombosis. New Engl J Med
1994: 330: 517-22.
8. Dahlback B, Hildebrand B. Inherited resistance to acti-
vated protein C is corrected by anticoagulation cofactor
activity found to be a property of factor V. Proc Natl
Acad Sci USA 1994; 91: 1396-400.
9. Zöller B. Dahlback B. Linkage between inherited resist-
ance to activated protein C and factor V gene mutation
in venous thrombosis. Lancet 1994; 343: 1536-8.
10. Bertina RM, Koeleman BPC, KosterT, Rosendaal FR,
Dirven RJ, de Ronde H, et al. Mutation in blood coag-
ulation factor V associated with resistance to activated
protein C. Nature 1994; 369: 64-7.
11. Heeb MJ, Kojima Y, Greengard JS, Griffin JH. Activa-
ted protein C resistance: molecular mechanisms based
on studies using purified Gln 506-factor V. Blood 1995;
85: 3405-11.
12. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A
common genetic variation in the 3’- untranslated region
of the protrombin gene is associated with elavated plas-
ma prothrombin levels and an increase in venous throm-
bosis. Blood 1996; 88: 3698-703.
13. Rees DR, Cox M, CleggJB. World distribution offactor
V Leiden.Lancet 1995; 346: 1133—4.
14. Bell GI, Karam JH, Rutter WJ. Polymorphic DNA
region adjacent to the 5’ end of the human insulin gene.
Proc Natl Acad Sci USA 1981; 78: 5759-63.
15. Zöller B, Svensson PJ, He X, Dahlback B. Identifica-
tion of the same factor V mutation in 47 out of 50
thrombosis-prone families with inherited resistance to
activated protein C. J Clin Invest 1994; 94: 2521-4.
16. Dahlback B. Inherited thrombophilia: resistance of acti-
vated protein C as a pathogenic factor of venous throm-
boemboiism. Blood 1995; 85: 607-14.
17. Roosendaal FR, Koster T, Vandenbroucke JP, Reitsma
PH. High risk of thrombosis in patients homozygous for
factor V Leiden (activated protein C resistance). Blood
1995; 85: 1504-8.
18. Ridker P, Miletich JP, Stampfer MJ, Goldhaber SZ,
Lindpaintner K, Hannekens CH. Factor V Leiden and
risks of recurrent idiopathic venous thromboembolism.
Circulation 1995; 92: 2800-2.
19. Vandenbroucke JP, Koster T, Briet E, Reitsma PH,
Bertina RM, Rosendaal FR. Increased risk of venous
thrombosis in oral-contraceptive users who are carriers
of factor V Leiden mutation. Lancet 1994; 344:1453-7.
20. Cook G, Walker ID, McCall F, Conkie JA, Greer IA.
Familial thrombophilia and activated protein C resist-
ance: thrombotic risk in pregnancy. Br J Haematol 1994;
87: 873-5.
21. Bloemenkamp kKWM. Rosendaal FR, Helmerhorst
FM, Buller HR, Vandenbroucke JP. Enhancement by
factor V Leiden mutation of risk of deep-vein thrombo-
sis associated with oral contraceptives containing a third
generation progestagen. Lancet 1995; 346: 1593-6.
22. Ridker PM. Hennekens CH, Lindpainter K, Stampfer
MJ, Eisenberg PR, Miletich JP. Mutation in the gene
coding for coagulation factor V and the risk of myocar-
dial infarction, stroke and venous thrombosis in appa-
ranty healthy men. New Engl J Med 1995; 332: 912-7.
23. Simioni P, Prandoni P, Lensing AWA, Scudeller A,
Sardella C, Prins MH, et al. The risk of recurrent venous
thromboembolism in patients with an arg!“ —> Gln mu-
tation in the gene for factor V (factor V Leiden). New
Engl J Med 1997; 336: 399-403.
24. Holm J, Zöller B, Svensson PJ, Berntorp E, Erhardt L,
Dahlback B. Myocardial infarction associated with ho-
mozygous resistance to activated protein C. Lancet 1994;
344: 952-3.
25. Beuchamp NJ, Daly ME. Hampton KK, Cooper PC,
Preston FE, Peake IR. High prevalence of a mutation in
the factor V gene within the U.K. population: relation-
ship to activated protein C resistance and familial throm-
bosis. Br J Haematol 1994; 88: 219-22.
26. Dalback B. Are we ready for factor V Leiden screening?
Lancet 1996; 347:1346-7.
27. Tripodi A, Negri B, Bertina RM, Mannucci PM.
Screening for the FV:Q506 mutation - evaluation of
thirteen plasma-based methods for their diagnostic effi-
cacy in comparison with DNA analysis. Thromb Hae-
mostasis 1997; 77: 436-9.