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Activated Protein C Resistance Information

Activated protein C resistance is a hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). This results in an increased risk of venous thrombosis, which can cause heart attacks, strokes, and other problems with circulation.[1]

The disorder can be acquired or inherited, the hereditary form having an autosomal dominant inheritance pattern.[2]

Pathophysiology

Protein C Anticoagulant Pathway: Thrombin escaping from a site of vascular injury binds to its receptor thrombomodulin (TM) on the intact cell surface. As a result, thrombin loses its procoagulant properties and instead becomes a potent activator of protein C. Activated protein C (APC) functions as a circulating anticoagulant, which specifically degrades and inactivates the phospholipid-bound factors Va and VIIIa. This effectively down-regulates the coagulation cascade and limits clot formation to sites of vascular injury. T = Thrombin, PC= Protein C, Activated Protein C= APC, PS= Protein S

Activated protein C (with protein S as a cofactor) degrades Factor Va and Factor VIIIa. Activated protein C resistance is the inability of protein C to cleave Factor Va and/or Factor VIIIa, which allows for longer duration of thrombin generation and may lead to a hypercoagulable state. This may be hereditary or acquired.[3] The best known and most common hereditary form is Factor V Leiden. Acquired forms occur in the presence of elevated Factor VIII concentrations.

Associated conditions

Up to 64% of patients with venous thromboembolism might have activated protein C resistance.[4]

References

  1. ^ Dahlbäck B (2003). "The discovery of activated protein C resistance". J. Thromb. Haemost. 1 (1): 3–9. doi:10.1046/j.1538-7836.2003.00016.x. PMID 12871530.
  2. ^ Koster T, Rosendaal FR, De Ronde H, Briët E, Vandenbroucke JP, Bertina RM (December 1993). "Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study". Lancet 342 (8886–8887): 1503–6. doi:10.1016/S0140-6736(05)80081-9. ISSN 0140-6736. PMID 7902898.
  3. ^ Nicolaes GA, Dahlbäck B (2003). "Congenital and acquired activated protein C resistance". Semin Vasc Med 3 (1): 33–46. doi:10.1055/s-2003-38331. PMID 15199491.
  4. ^ Sheppard DR (2000). "Activated protein C resistance: the most common risk factor for venous thromboembolism". J Am Board Fam Pract 13 (2): 111–5. PMID 10764192.
Pathology: hematology · hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)
Red blood cells
Poly- cythemia Polycythemia vera
Anemia
Nutritional

Micro-: Iron deficiency anemia (Plummer-Vinson syndrome)

Macro-: Megaloblastic anemia (Pernicious anemia)
Hemolytic (mostly Normo-)
Hereditary

enzymopathy: G6PD · glycolysis (PK, TI, HK)

hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH

membrane: Hereditary spherocytosis (Minkowski-Chauffard syndrome) · Hereditary elliptocytosis (Southeast Asian ovalocytosis) · Hereditary stomatocytosis
Acquired

Autoimmune (WAHA, CAD, PCH)

membrane (PNH)

MAHA · TM (HUS)

Drug-induced autoimmune · Drug-induced nonautoimmune

Hemolytic disease of the newborn
Aplastic (mostly Normo-)

Hereditary: Fanconi anemia · Diamond–Blackfan anemia

Acquired: PRCA · Sideroblastic anemia · Myelophthisic
Blood tests MCV (Normocytic, Microcytic, Macrocytic) · MCHC (Normochromic, Hypochromic)
Other Methemoglobinemia · Sulfhemoglobinemia · Reticulocytopenia
Coagulation/ coagulopathy
Hyper- coagulability primary: Antithrombin III deficiency · Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden · Prothrombin G20210A acquired:Thrombocytosis (essential) · DIC (Congenital afibrinogenemia, Purpura fulminans) · autoimmune (Antiphospholipid)
Hypo- coagulability
Thrombocytopenia

Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP)

Heparin-induced thrombocytopenia · May-Hegglin anomaly
Platelet function adhesion (Bernard–Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) · platelet storage pool deficiency (Hermansky–Pudlak syndrome, Gray platelet syndrome)
Clotting factor Hemophilia (A/VIII, B/IX, C/XI) • von Willebrand diseaseHypoprothrombinemia/II · XIII · Dysfibrinogenemia

: MYL

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