Protein C deficiency
Classification & external resources
Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders know as thrombophilias.
The prevalence of protein C deficiency has been estimated to about 0,2% of the general population.
Additional recommended knowledge
Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 7), whereas no association with arterial thrombotic disease has been found.
The main function of protein C is its anticoagulant property as an inhibitor of coagulation factors V and VIII.
There are two main types of protein C mutations that lead to protein C deficiency:
- Type I: Quantitative defects of protein C (low production or short protein half life)
- Type II: Qualitative defects, in which interaction with other molecules is abnormal. Defects in interaction with thrombomodulin, phospholipids, factors V/VIII and others have been described.
Homozygous protein C mutations often causes a severe thrombotic disorder known as purpura fulminans.protein c deficiency has only had 16 cases before 1999
Primary phrophylaxis with aspirin, heparin or warfarin should be considered in known familial cases.
Anticoagulant prophylaxis is given to all who develop a venous clot regardless of underlying cause.
Studies have demonstrated an increased risk of recurrent venours thromboembolic events in patients with protein C deficiency. Therefore, long-term anticoagulation therapy with warfarin should be considered in these patients.
Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.
|Pathology: hematology (primarily C81-C96/200-208, D45-D47, D50-D77/280-289)|
|WBCs||hematological malignancy (lymphoma, leukemia, multiple myeloma), myeloproliferative disease, myelodysplastic syndrome|
-cytosis (Agranulocytosis, Leukocytosis, Lymphocytosis, Monocytosis) • -penia (Lymphopenia, Neutropenia)
|nutritional anemia: Iron deficiency anemia, Plummer-Vinson syndrome, Megaloblastic anemia (Pernicious anemia)|
hereditary hemolytic anemia: G6PD Deficiency, Thalassemia, Sickle-cell disease/trait, Hereditary spherocytosis, Hereditary elliptocytosis, Hereditary stomatocytosis
acquired hemolytic anemia: Autoimmune (Warm), HUS, MAHA, PNH, PCH
aplastic anemia: Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia • Sideroblastic anemia • Hemochromatosis
|Coagulation/platelets||coagulopathy: DIC • Hemophilia (A/VII, B/IX, C/XI, XIII) • Von Willebrand disease
Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP
primary hypercoagulable state: Protein C deficiency -
Protein S deficiency - Antithrombin III deficiency - Antiphospholipid syndrome - Factor V Leiden
other hemorrhagic conditions: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Grey platelet syndrome
|Histiocytosis||WHO-I Langerhans cell histiocytosis - non-Langerhans-cell histiocytosis/WHO-II (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) - malignant histiocytic disorders/WHO-III (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease)|
|Other||Asplenia/hyposplenism - Methemoglobinemia|