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Thrombophilia (Aetiology (Congenital Protein C/S/antithrombin deficiency …
Thrombophilia
Aetiology
Congenital
Protein C/S/antithrombin deficiency
Factor V Leiden (APC) deficiency
Prothrombin gee mutation
Neoplastic
Any malignancy
Drugs
COCP, HRT
Autoimmune
SLE, RA
Anti-phospholipid syndrome
Endocrine
Pregnancy
Haematological
Polycythaemia
Clinical
presention
Neonatal purpura
fulminans
Ischemic skin lesions
DVT/PE
CVST
Diagnosis
Examination
General
Bruises, purpura, bleeds,
calf tenderness/swelling, etc
Investigations
Bedside
Obs, ECG
Bloods
FBC, U+E, LFTs
Clotting (PT, thrombin time, APPT, fibrinogen)
Blood film
Immune screen (ANA, ANCA, cardiolipin Abs)
Congenital assay (Antithrobin, protein C/S, APC)
History
PC/HPC
Unexplained VTE
FH
DVT/PE, thrombophilia
PMH
Previous events, known diseases,
recent pregnancy
DH
COCP
SH
Living arrnagements,
smoking, alcohol
Management
Medical
Heparin
Indication: ASAP acute VTE
Warfarin
Indication: acute VTE until INR 2-3;
prophylaxis in recurrent unprovoked VTE
Conservative
Information, advice, support
Address modifiable triggers (COCP/HRT, weight loss, exercise)
Epidemiology
Uncommon
Rare in children
Pathophysiology
Defect
Multiple aetiology can result in imbalance of
clotting factors, resulting in low anti-coag and high pro-coag
Mechanism
Thrombosis formation (usually venous)
Definition
Coagulopathy predisposing
to thrombosis