Coagulation

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Author:
egoranson
ID:
22494
Filename:
Coagulation
Updated:
2010-06-07 18:20:05
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Coagulation
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Coagulation for the boards
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  1. May Hegglin anomaly
    autosomal dominant, triad of giant plts, thrombocytopenia, and large Dohle body inclusions (aggregates of myosin heavy chain in dohle body) . Nl dohle bodies composed of RER.
  2. Alder Reilly anomaly
    AR, dense large azurophilic granules in cytoplasm, associated with mucopolysaccharidoses
  3. Chediak Higashi anomaly
    AR, mutation in lysosomal transport protein, results in partial albinism, dysfunctional phagocytic function, and large cytoplasmic granules
  4. Bernard Soulier syndrome
    Lack of glyocprotein Ib/V/IX complex, cannot bind to VWF. Platelet aggy shows diminshed aggregation with ristocetin, nl with ADP, epi, tx2, col. Large platelets. vWD types will also show this same aggy profile.
  5. Glanzmans Thrombasthenia
    AR, def in GPIIb/IIIa complex, cannot bind fibrinogen. Abnormal plt aggy with ADP, epi, tx2, col and normal with ristocetin.
  6. Wiskott-Aldrich
    triad of thrombocytopenia, exczema and immunodeficiency
  7. Type I VWD
    quantitative defect, most common, mild bleeding disorder. Normal multimer pattern, but just diminshed amount. Nl ristocetin aggregometry
  8. Type IIa VWD
    10-15% of cases, absence of high molec weight multimers. Decreased agg with ristocetin.
  9. Type IIb
    Increased affinity for plt receptors, thus enhanced ristocetin plt aggregation. also assoc with profound thrombocytopenia. Do not us DDAVP with these patients - spontaneous bleed. Gain of function mutation.
  10. Type III VWD
    AR, most severe, virtually no VWD produced.
  11. DDAVP
    Used to treat type I VWD, not others.Also in addition to cryo if needed. Contraindicated in type IIb.
  12. Cryo or plasma
    Used in type II and III VWD
  13. Warfarin affects which factors? what mechanism?
    II, VII, IX, X, Protein S and Protein C. Inhibits Vit K carboxylation of factors. Warfarin skin necrosis due to deficiency in protien C leading to hypercoagulable state.
  14. Activated protein C resistance is caused by?
    Factor V Leiden mutation. AD, most common inhereted thrombophilia. Point mutation leads to proteolytic resistance of protein C.
  15. Prothrombin gene mutation is what kind and with what result?
    AD, second most common thrombophilia. point mutation wtihin 3' untranslated region, leads to enhanced prothrombin gene trsc and trsl. Increazed levels of prothrombin!

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