Haemostasis 2 Flashcards
Examples of rare bleeding disorders
- factor XI, VII, V, X, II (prothrombin) deficiency
- factor XIII and fibrinogen
- combined V & VIII, vit K dependent factors deficiency
- Glanzmanns
- Bernard Soulier
Features of rare bleeding disorders
- CNS, GI, haemarthroses, haematomas less frequent
- mucosal bleeding
- menorrhagia in 50%
- broadly less life/limb threatening
FVII deficiency Blood Count
Abnormal PT
Normal APTT
FVII, FIX, FXI deficiency blood count
Normal PT
Abnormal APTT
Fibrinogen, FII, FV, FV + VIII, FX deficiency blood count
Abnormal PT
Abnormal APTT
Features of factor XI deficiency
- complicated genetics
- severity doesn’t correlate with level of factor
- mucosal and urogenital, spinal and closed space sites of surgery
Treatment of factor XI deficiency
- plasma derived factor concentrate
- avoid concurrent tranexamic acid
- aim low normal levels
- long half life
- consider thromboprophylaxis
Features of factor VII deficiency
- poor correlation levels and bleeding tendency
- if very low levels = severe phenotype or coincidental pick up late in life
- low dose recombinant fVIIa
- VII may rise in pregnancy
- possible compensation by other clotting factors rising in pregnancy
- assess bleeding phenotype in non-pregnant state
Features of factor V deficiency
- generally mild
- early, severe presentation
- check VIII level
- no concentrate available
- plasma (solvent detergent FFP)
Factor V and VIII deficiency
- generally mild
- VIII and V genetics
- treatment = VIII concentrate, DDAVP, plasma
Fibrinogen deficiency
- bleeding and thrombotic risks
- quantitative = afibrinogenaemia/hypofibrinogenaemia
- qualitative = dysfibrinogenaemia
- coexist = hypodysfibrinogenaemia
- potential severe bleeding
- umbilical cord bleeding
Difference between cryoprecipitate vs fibrinogen concentrate
- both for fibrinogen deficiency
- both plasma derived
- cryo not pathogen inactivated
- fibrinogen concentrate activated by heat
Causes of fibrinogen deficiency in pregnancy
Recurrent miscarriage
Abruption and PPH
Fibrinogen replacement in pregnancy
- clearance increases during pregnancy
- aim >1g/l during pregnancy
- aim >2g/l for delivery
Factor II deficiency
- variable phenotype
- prothrombin complex conc.. and plasma
- COCP for menorrhagia
Factor X deficiency
- some bleeding correlation with severity level
- may need to consider prophylaxis = prothrombin complex conc. and plasma
Factor XIII deficiency
- poor wound healing
- prolonged umbilical stump bleeding
- bleeding symptoms from birth
- numerical severity often reflects bleeding risk
- conventional bleeding test will not detect
- trials of recomb XIII for prophylaxis
- cryo or plasms
Vit K Dependent factor deficiency
- factors II, VII, IX and X
- PT concentrate
- plasma
- check vit K given as neonate otherwise haemorrhagic disease of newborn
Which rare bleeding disorders don’t have a mutation in corresponding clotting factor gene
- combined V and VIII deficiency
- vit K dependent factor deficiency
Features of Glanzmanns
- absent IIb/IIIa receptor on platelet surface
- platelets morphologically and numerically normal
- PFA grossly abnormal
- platelet aggregometry = absent response to all except ristocetin
- flow cytometry = demonstrate absent IIb/IIIa
Features of Bernard-Soulier
- absent Ib/IX/V receptor on platelet surface
- platelets morphologically large and reduced in number
- PFA normal
- platelet aggregometry shows absent response to ristocetin
- flow cytometry demonstrates absent Ib/IX/V
Treatment options for Glanzmanns and Bernard SOulier
- platelet ideal HLA matched
- recomb VIIa
- tranexamic acid
- COCP
- bone marrow transplantation
- HLA and anti receptor ab
- care around menarche
- combined clinic ith gynae
- contraception
- iron deficiency
- bleeding
- dietary
