Thrombophilia

Thrombophilia
OMIM	188050
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 means increased risk of thrombosis (blood clots) in the body, due to an abnormality in the system of coagulation. Thrombophilia can be congenital or acquired. Less than 50% of the cases of thrombosis not diagnosed with un underlying thrombophilia.

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.
• Acquired vs. congenital

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
  • anti-cardiolipin antibodies and/or
  • lupus anticoagulants
• 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.

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.

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.

References

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