This document outlines guidelines for investigating thrombophilia. Patients who should be investigated include those with recurrent venous thrombosis, a first venous thrombosis under age 40, an unusual venous thrombosis, unexplained neonatal thrombosis, or recurrent miscarriages. General investigations include D-dimer and full blood count levels. Specific investigations identify deficiencies in naturally occurring anticoagulants like antithrombin, protein C, and protein S, as well as screening for coagulation factor inhibitors and antibodies. Genetic testing can identify mutations like Factor V Leiden that increase thrombosis risk. The results determine if further investigation or treatment is needed.
2. 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
3. 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
11. 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
12. 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
13. REFERENCES :
Davidsons Principles and
Practice of Medicine 23rd edition
, page 923
Kumar & Clarks Kumar &
Clarks Clinical Medicine Eighth
Edition , pages 416-425