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
Chemical / poisoning	No underlying causes
Dermatologic	No underlying causes
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
Ear Nose Throat	No underlying causes
Endocrine	No underlying causes
Environmental	No underlying causes
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
Hematologic	• Polycythemia vera • Essential thrombocythemia • Myeloproliferative disease • Hyperviscosity syndrome • Paroxysmal Nocturnal Hemoglobinuria • Thrombocytosis
Iatrogenic	No underlying causes
Infectious Disease	• Intraperitoneal abscess • Acute peritonitis • Visceral abscess • Diverticulitis
Musculoskeletal / Ortho	• Orthopedic surgeries • Abdominal surgery
Neurologic	No underlying causes
Nutritional / Metabolic	• Cystathionuria • Homocystinuria • Methyltetrahydrofolate reductase deficiency • Metabolic Syndrome • Insulin resistance • Folic acid deficiency
Obstetric/Gynecologic	• Pregnancy • Puerperium period
Oncologic	• Malignancy • Peritoneal metastasis • Adenocarcinoma of cecum • Adenocarcinoma of colon • Occult malignancy • Leukemia • Pancreatic cancer
Opthalmologic	No underlying causes
Overdose / Toxicity	No underlying causes
Psychiatric	No underlying causes
Pulmonary	No underlying causes
Renal / Electrolyte	No underlying causes
Rheum / Immune / Allergy	• Antiphospholipid Syndrome • Circulatin anticoagulant • Heparin induced thrombocytopenia • Inflammatory bowel disease • Crohn's disease
Sexual	No underlying causes
Trauma	• Trauma • Abdominal trauma
Urologic	No underlying causes
Miscellaneous	No underlying causes

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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