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| {{Infobox_Disease |
| | __NOTOC__ |
| Name = {{PAGENAME}} |
| | {{Thrombophilia}} |
| Image = |
| | {{CMG}}; {{AE}} [[User:Kashish Goel|Kashish Goel, M.D.]], {{asiri}},{{M.B}}, {{MKA}}, {{S.G.}}, {{JK}} |
| Caption = |
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| DiseasesDB = 29080 |
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| ICD10 = |
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| ICD9 = |
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| ICDO = |
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| OMIM = 188050 |
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| MedlinePlus = |
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| eMedicineSubj = |
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| eMedicineTopic = |
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| MeshID = D019851 |
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| }} | |
| {{SI}} | |
| {{CMG}};'''Associate Editor(s)-In-Chief:''' [[Kashish Goel|Kashish Goel, M.D.]] | |
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| '''''Synonyms and Keywords:''''' Hypercoagulability, coagulability, hypercoagulable state
| | {{SK}} Hypercoagulability, coagulability, hypercoagulable state; thrombosis risk elevation; thrombotic tendency; prothrombotic state; clotting disorder; |
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| ==Overview== | | == [[Thrombophilia overview|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.
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| ==Classification== | | == [[Thrombophilia historical perspective|Historical Perspective]]== |
| Thrombophilia can be classified in various forms.
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| * The most common classification is by the nature of the thrombosis: [[artery|arterial]], [[vein|venous]] or combined.
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| * 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.<ref>{{cite journal |author=Crowther MA, Kelton JG |title=Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system |journal=Ann. Intern. Med. |volume=138 |issue=2 |pages=128-34|year=2003 |pmid=12529095 |doi= |url=http://www.annals.org/cgi/reprint/138/2/128}}</ref>
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| * Acquired vs. congenital
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| ==Pathophysiology== | | == [[Thrombophilia classification|Classification]] == |
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| ==Epidemiology and Demographics== | | == [[Thrombophilia pathophysiology|Pathophysiology]] == |
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| ==Risk factors== | | == [[Thrombophilia causes|Causes]] == |
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| ==Causes== | | == [[Thrombophilia differential diagnosis|Differentiating Thrombophilia from Other Diseases]] == |
| Common types:
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| * [[Factor V Leiden|Factor V, Leiden type]] (5% of the population are [[heterozygous]] for FVL).
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| * [[Prothrombin]] mutation (G20210A, 5'UTR).
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| * High [[homocysteine]] levels due to [[MTHFR]] mutation or vitamin deficiency (vitamins B6, B12 and folic acid).
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| * [[Antiphospholipid antibodies]]
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| ** [[anti-cardiolipin antibodies]] and/or
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| ** [[lupus anticoagulant]]s
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| * [[Kidney|Renal disease]] (renal loss of antithrombin)
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| Rare forms:
| | == [[Thrombophilia epidemiology and demographics|Epidemiology and Demographics]]== |
| * [[Plasminogen]] and [[fibrinolysis]] disorders.
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| * [[Paroxysmal nocturnal hemoglobinuria]]
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| * [[Protein C deficiency]].
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| * [[Protein S deficiency]].
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| * [[Antithrombin|Antithrombin III]] deficiency.
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| ==Differential diagnosis of thrombophilia== | | == [[Thrombophilia risk factors|Risk Factors]] == |
| (By organ system)
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| {|style="width:75%; height:100px" border="1"
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| |style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" | '''Cardiovascular'''
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| |style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | • Cerebral vein [[thrombosis]] • [[Acute myocardial infarction]] • [[Deep vein thrombophlebitis]] • [[Portal vein thrombosis]] • Pelvic [[thrombophlebitis]]
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| |-
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| |-bgcolor="LightSteelBlue"
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| | '''Drug Side Effect'''
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| |bgcolor="Beige"| • 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
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| |-
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| |-bgcolor="LightSteelBlue"
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| | '''Endocrine'''
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| |bgcolor="Beige"| • [[Hyperosmolar non-ketotic diabetic coma]]
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| |-bgcolor="LightSteelBlue"
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| | '''Gastroenterologic'''
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| |bgcolor="Beige"| • Acute [[pancreatitis]] • [[Portal hypertension]]
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| |-
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| |-bgcolor="LightSteelBlue"
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| | '''Genetic'''
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| |bgcolor="Beige"| 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
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| |-bgcolor="LightSteelBlue"
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| | '''Hematologic'''
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| |bgcolor="Beige"| • [[Polycythemia vera]] • [[Essential thrombocythemia]] • [[Myeloproliferative disease]] • [[Hyperviscosity]] syndrome • [[Paroxysmal Nocturnal Hemoglobinuria]] • [[Thrombocytosis]] • Raised homocysteine levels
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| |-bgcolor="LightSteelBlue"
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| | '''Iatrogenic'''
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| |bgcolor="Beige"| Surgical complication
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| |-bgcolor="LightSteelBlue"
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| | '''Infectious Disease'''
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| |bgcolor="Beige"| • Intraperitoneal abscess • [[Acute peritonitis]] • Visceral [[abscess]] • [[Diverticulitis]] • Intravenous catheter infection
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| |-bgcolor="LightSteelBlue"
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| | '''Musculoskeletal / Ortho'''
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| |bgcolor="Beige"| • Orthopedic surgeries • Abdominal surgery
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| |-bgcolor="LightSteelBlue"
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| | '''Nutritional / Metabolic'''
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| |bgcolor="Beige"| • Cystathionuria • Homocystinuria • Methyltetrahydrofolate reductase deficiency • [[Metabolic Syndrome]] • [[Insulin resistance]] • Folic acid deficiency • [[Obesity]]
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| |-bgcolor="LightSteelBlue"
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| | '''Obstetric/Gynecologic'''
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| |bgcolor="Beige"| • Pregnancy • Puerperium period • Ovarian hyperstimulation syndrome
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| |-bgcolor="LightSteelBlue"
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| | '''Oncologic'''
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| |bgcolor="Beige"| • Malignancy • Peritoneal metastasis • Adenocarcinoma of cecum • Adenocarcinoma of colon • Occult malignancy • Leukemia • Pancreatic cancer • [[Glucagonoma]]
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| |-bgcolor="LightSteelBlue"
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| | '''Renal / Electrolyte'''
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| |bgcolor="Beige"| • [[Chronic renal failure]] • [[Paroxysmal Nocturnal Hemoglobinuria]] • [[Nephrotic syndrome]]
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| |-bgcolor="LightSteelBlue"
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| | '''Rheum / Immune / Allergy'''
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| |bgcolor="Beige"| • [[Antiphospholipid Syndrome]] • Circulatin anticoagulant • [[Heparin induced thrombocytopenia]] • [[Inflammatory bowel disease]] • [[Crohn's]] disease • [[Behcet disease]] • Hughes-Stovin syndrome • [[Polyarteritis Nodosa]] • [[SLE]]
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| |-bgcolor="LightSteelBlue"
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| | '''Trauma'''
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| |bgcolor="Beige"| • Trauma • Abdominal trauma
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| |-bgcolor="LightSteelBlue"
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| | '''Miscellaneous'''
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| |bgcolor="Beige"| • [[Paraneoplastic syndrome]] • Hypereosinophilic syndrome • Immobility
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| |}
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| ==Indications for testing== | | == [[Thrombophilia screening|Screening]]== |
| 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:
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| * Age less than 50 years
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| * Recurrent thrombosis
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| * Unusual sites
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| * Family history in first-degree relatives
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| * Recurrent miscarriages
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| * Warfarin-induced skin necrosis
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| 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.
| | == [[Thrombophilia natural history, complications and prognosis|Natural History, Complications and Prognosis]] == |
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| Increasingly, [[habitual abortion|recurrent miscarriage]] is seen as an indication for thrombophilia screening. <ref>Dawood, F., Farquharson, R., Quenby, S.''Recurrent miscarriage.'' Current Obstetrics & Gynaecology, 2004; 14:247-253.</ref>
| | == Diagnosis == |
| | [[Thrombophilia history and symptoms|History and Symptoms]] | [[Thrombophilia physical examination|Physical Examination]] | [[Thrombophilia laboratory findings|Laboratory Findings]] | [[Thrombophilia x ray|X Ray]] | [[Thrombophilia CT|CT]] | [[Thrombophilia MRI|MRI]] | [[Thrombophilia echocardiography or ultrasound|Ultrasound]] | [[Thrombophilia other imaging findings|Other Imaging Studies]] | [[Thrombophilia other diagnostic studies|Other Diagnostic Studies]] |
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| 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 [[thrombin|prothrombin]] mutation. Many laboratories add on various other tests, depending on local policy and guidelines.
| | == Treatment == |
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| ==Treatment==
| | [[Thrombophilia medical therapy|Medical Therapy]] | [[Thrombophilia surgery|Surgery]] | [[Thrombophilia primary prevention|Primary Prevention]] | [[Thrombophilia secondary prevention|Secondary Prevention]] | [[Thrombophilia future or investigational therapies|Future or Investigational Therapies]] | [[Thrombophilia cost-effectiveness of therapy | Cost Effectiveness of Therapy]] |
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| ==References== | | ==Case Studies== |
| {{Reflist|2}}
| | :[[Thrombophilia case study one|Case #1]] |
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| [[Category:Hematology]] | | [[Category:Hematology]] |
| | | [[Category:Disease]] |
| [[de:Thrombophilie]] | |
| [[fr:Thrombophilie]]
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| [[no:Trombofili]]
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| [[pl:Trombofilia]]
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| {{WH}} | | {{WH}} |
| {{WS}} | | {{WS}} |