Thrombophilia
| Thrombophilia | |
| OMIM | 188050 |
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| DiseasesDB | 29080 |
| MeSH | D019851 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-In-Chief: Kashish Goel, M.D.
Synonyms and Keywords: Hypercoagulability, coagulability, hypercoagulable state
Overview
Thrombophilia is defined as an increased risk of thrombosis in the body, due to an abnormality in the system of coagulation. Thrombophilia can be congenital or acquired. More than 50% of the cases of thrombosis are associated with an underlying thrombophilia. Thrombophilias are mostly associated with venous thromboembolism like deep vein thrombosis in lower extremities or pulmonary embolism.
Classification
Thrombophilia can be classified in various forms.
- The most common classification is by the nature of the thrombosis: arterial, venous or combined.
- Crowther & Kelton (2003) propose to classify the abnormality by the molecular deficiency, type I being the (severe) deficiencies of inhibitors, and type II being the less severe elevation of coagulation factors.[1]
- Acquired vs. congenital
Pathophysiology
Epidemiology and Demographics
Risk factors
Causes
Common types:
- Factor V, Leiden type (5% of the population are heterozygous for FVL).
- Prothrombin mutation (G20210A, 5'UTR).
- High homocysteine levels due to MTHFR mutation or vitamin deficiency (vitamins B6, B12 and folic acid).
- Antiphospholipid antibodies
- Renal disease (renal loss of antithrombin)
Rare forms:
- Plasminogen and fibrinolysis disorders.
- Paroxysmal nocturnal hemoglobinuria
- Protein C deficiency.
- Protein S deficiency.
- Antithrombin III deficiency.
Differential diagnosis of thrombophilia
(By organ system)
| Cardiovascular | • Cerebral vein thrombosis • Acute myocardial infarction • Deep vein thrombophlebitis • Portal vein thrombosis • Pelvic thrombophlebitis |
| Drug Side Effect | • Asparaginase • Bevacizumab • Combined oral contraceptive pill • Cyproterone • Diethylstilboestrol • Drospirenone • Eltrombopag • Erythropoietin • Ethinylestradiol • Fosfestrol • Granulocyte-macrophage colony stimulating factor • Heparin • Hormone replacement therapy • Lenalidomide • Peginesatide • Polyestradiol • Raloxifene • Strontium ranelate • Tamoxifen • Tobacco smoking • Tranexamic acid • Vorinostat |
| Endocrine | • Hyperosmolar non-ketotic diabetic coma |
| Gastroenterologic | • Acute pancreatitis • Portal hypertension |
| Genetic | Congenital Dysfibrinogenemia • Factor II mutation • Hereditary thrombophlebitis • Antithrombin III deficiency • Factor V Leiden mutation • Protein C deficiency • Protein S deficiency • Klippel-Trenaunay syndrome • Klinefelter syndrome • Sickle cell disease • Carbohydrate-deficient glycoprotein syndrome type 1b • Factor XII deficiency • Haemoglobin SC disease • Hyperprothrombinemia 20210G-A • Plasminogen deficiency • Activated protein C resistance • CD59 antigen deficiency • Cystathionine beta-synthase deficiency |
| Hematologic | • Polycythemia vera • Essential thrombocythemia • Myeloproliferative disease • Hyperviscosity syndrome • Paroxysmal Nocturnal Hemoglobinuria • Thrombocytosis • Raised homocysteine levels |
| Iatrogenic | Surgical complication |
| Infectious Disease | • Intraperitoneal abscess • Acute peritonitis • Visceral abscess • Diverticulitis • Intravenous catheter infection |
| Musculoskeletal / Ortho | • Orthopedic surgeries • Abdominal surgery |
| Nutritional / Metabolic | • Cystathionuria • Homocystinuria • Methyltetrahydrofolate reductase deficiency • Metabolic Syndrome • Insulin resistance • Folic acid deficiency • Obesity |
| Obstetric/Gynecologic | • Pregnancy • Puerperium period • Ovarian hyperstimulation syndrome |
| Oncologic | • Malignancy • Peritoneal metastasis • Adenocarcinoma of cecum • Adenocarcinoma of colon • Occult malignancy • Leukemia • Pancreatic cancer • Glucagonoma |
| Renal / Electrolyte | • Chronic renal failure • Paroxysmal Nocturnal Hemoglobinuria • Nephrotic syndrome |
| Rheum / Immune / Allergy | • Antiphospholipid Syndrome • Circulatin anticoagulant • Heparin induced thrombocytopenia • Inflammatory bowel disease • Crohn's disease • Behcet disease • Hughes-Stovin syndrome • Polyarteritis Nodosa • SLE |
| Trauma | • Trauma • Abdominal trauma |
| Miscellaneous | • Paraneoplastic syndrome • Hypereosinophilic syndrome • Immobility |
Indications for testing
Searching for a coagulation abnormality is not normally undertaken in patients in whom thrombosis has an obvious other cause. For example, if the thrombosis is due to immobilisation after recent orthopedic surgery, it is unlikely that an underlying cause is found. Comprehensive testing in any patient should include complete assessment of risk factors and its effect on long-term therapy. Some of the indications may include:
- Age less than 50 years
- Recurrent thrombosis
- Unusual sites
- Family history in first-degree relatives
- Recurrent miscarriages
- Warfarin-induced skin necrosis
Conversely, although thrombosis itself may occur in any person, repeated (two or more) unprovoked episodes of thrombosis and unusual sites and types of thrombosis (e.g. Budd-Chiari syndrome) may point towards a coagulation disorder.
Increasingly, recurrent miscarriage is seen as an indication for thrombophilia screening. [2]
Tests for thrombophilia include prothrombin time and INR, partial thromboplastin time, thrombin time, fibrinogen levels, antiphospholipid antibody levels (IgG- and IgM-anticardiolipin, dilute Russell viper venom time and lupus anticoagulant), protein C, protein S and antithrombin (both levels and activity), activated protein C resistance (APC resistance), factor V Leiden and prothrombin mutation. Many laboratories add on various other tests, depending on local policy and guidelines.
Treatment
References
- ↑ Crowther MA, Kelton JG (2003). "Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system". Ann. Intern. Med. 138 (2): 128–34. PMID 12529095.
- ↑ Dawood, F., Farquharson, R., Quenby, S.Recurrent miscarriage. Current Obstetrics & Gynaecology, 2004; 14:247-253.