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INVESTIGATION OF
THROMBOPHILIA
悋愃悋惆 悋 愃惘 悋惘愕
OBJECTIVES :
 How to pick the patient who need to investigate .
General investigation in thrombophilia
Specific investigation in thrombophilia
How to approach the patient with thrombophilia
WHO TO INVESTIGATE ?
Recurrent venous thrombosis
Venous thrombosis for the first time under age 40 years
An unusual venous thrombosis such as mesenteric
 Unexplained neonatal thrombosis
 Recurrent miscarriages
WHO TO INVESTIGATE ?
BACKGROUND
GENERAL
INVESTIGATIONS :
- plasma levels of D-dimers
- Full blood count
SPECIFIC INVESTIGATION :
Assays for naturally occurring anticoagulants such as :
-Anti thrombin
- protein C
- protein S
SPECIFIC INVESTIGATION :
molecular testing for factor V Leiden
single nucleotide substitution (Arg506Gln) in factor V
SPECIFIC INVESTIGATION :
Screen for a coagulation factor inhibitor including
-lupus anticoagulant is it for lupus ?
-anticardiolipin antibodies
SPECIFIC INVESTIGATION :
Arterial or venous
thrombus
Specific
investigation
General
investigations
Recurrent venous thrombosis
under age 40 years
An unusual venous thrombosis
Unexplained neonatal thrombosis
Recurrent miscarriages
Genetic testing Plasma levels
- Factor V Leiden
- JAK-2 V617F mutation
- Antithrombin
- Protein C
- Protein S (free)
- Antiphospholipid
antibodies
plasma levels of D-
dimers
Full blood
count
erythrocytosis
thrombocytosis
Go for farther
investigation for
ongoing thrombus
Yes
one
Yes
SUMMARY :
 How to pick the patient who need to investigate .
General investigation in thrombophilia
Specific investigation in thrombophilia
How to approach the patient with thrombophilia
REFERENCES :
Davidsons Principles and
Practice of Medicine 23rd edition
, page 923
Kumar & Clarks Kumar &
Clarks Clinical Medicine Eighth
Edition , pages 416-425

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Investigation of thrombophilia