Card Set Information

2013-07-16 06:48:03

Show Answers:

  1. what is HHT?
    hereditary haemorrhagic telangectasia
  2. genetics of HHT?
    • autosomal dominant
    • mutation in endothelial receptor for
    • TFG-beta
  3. what is TGF-beta?
    angiogenic cytokine
  4. what is the clinical picture of HHT?
    • telangectasia¬†
    • small aneurysms:¬†fingers, face, lungs, GI
    • PAVM -> arterial hypoxaemia
    • recurrent bleeds -> Fe deficiency anaemia
  5. management of HHT?
    • ablate PAVM
    • iron supplements
    • laster therapy for GI bleeds
  6. what is ehlers-danlos 4 disease?
    • vascular defect in collagen III
    • -> fragile endothelium and organ membranes
  7. how common is ehlers danlos?
    1/100 000 rare
  8. what is scurvy?
    vit C deficiency
  9. what are the consequences of scurvy?
    • perifollicular and petechial haemorrhage
    • brusing
    • subperiosteal bleeding
  10. what is glanzmann's syndrome?
    what cells affected
    • thromboasthenia
    • due to reduced membrane glycoproteins
    • autosomal recessive
  11. treatment for glanzmann's syndrome?
  12. name some antifibrinolytics?
    • transexamic acid
    • recombinant VIIa
  13. what is ITP?
    idiopathic thrombocytopenic purpura
  14. what happens in ITP?
    • autoAbs vs PLT membrane glycoprotein IIb/IIIa
    • -> premature removal by reticulo-endothelial system
  15. clinical effect of ITP?
    • bleeding
    • bruising
    • menorrhagia
  16. sex more prone to getting ITP?
  17. after 65yrs, what does ITP predispose to?
    • B cell malignancy
    • connective tissue disorder
  18. when does a patient need treatment for ITP?
    ie how low does the PLT count need to be...
  19. why do you give pred for people with ITP who are spontaneously bleeding?
    • to stop antibody production
    • to reduce the activity of reticuloendothelial cells in removing the PLTs
  20. haemophilia A lacks which factor?
  21. haemophilia B lacks which factor?
  22. what is the commonest cause of coagulation problems?
    haemophilia A
  23. talk about factor VIII?
    • made by liver and endothelium
    • 12hr half life
    • carried by vWF
  24. one in how many people have haemophilia A
    10 000
  25. genetics of haemophilia?
    • X linked
    • can screen via CVS
  26. why can female carriers of a recessive haemophilia gene have lower factor VIII/IX?
    random inactivation of normal X (lyonisation)
  27. what is the cause of secondary arthritis in haemophilia?
    spontaneous bleeding into joints
  28. management for haemophilia?
    • patient can keep factor VIII/IX at home in fridge in case of bleeding
    • physio
    • DDAVP for VIII
  29. why can DDAVP be used for treating haemophilia A?
    • because it increases the release of vWF
    • which means the limited factor VIII hangs around longer
  30. what is the risk of factor VIII treatment for haemophilia A?
    developing anti-factor VIII autoAbs

    could then give activated factor VII
  31. what kind of infections does a lack of factor VIII leave you prone to?
    • viral eg
    • HIV, CMV, vCJD, HBV
  32. which is more common:
    haemophilia A or B?
  33. what happens in von willebrand disease?
    • autosomal dominant chromosome 12 mutation
    • impaired vWF so less factor VIII available
    • so PLT can't bridge to the exposed collage in torn vessel wall
  34. treatment for von willebrand disease?
    • DDAVP
    • transexamic acid for mucosal bleeding
    • factor VIII
  35. infertility is linked to a problem with which clotting factor?
  36. what clotting factors does the liver produce?
    • 5, 7, 8, 9, 10, 11
    • prothrombin (2)
    • fibrinogen
  37. how does liver disease affect clotting?
    • decreased factors
    • decreased plasminogen clearence

    decreased clotting
  38. how does hypersplenism affect clotting?
  39. how does cholestatic jaundice affect clotting factors?
    • it reduces vit K absorption
    • less factors 2, 7, 9, 10
  40. how does kidney failure affect clotting?
    • high urea¬†
    • increases risk of bleeding
    • prolonged bleeding time