Thrombophilia, hereditaryD68.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 02.09.2022

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DefinitionThis section has been translated automatically.

Congenital tendency to venous and arterial thrombosis or embolism due to enzyme deficiency or genetically defective factors of the coagulation cascade. These include:

  • Antithrombin III deficiency (hereditary form)
  • APC resistance (APCR)
  • Prothrombin G20210A mutation
  • Protein C deficiency
  • Protein S deficiency
  • Hyperhomocysteinemia.

Occurrence/EpidemiologyThis section has been translated automatically.

Table 1: Thrombembolic tendency in hereditary thrombophilia syndromes
Disease Prevalence of the disease Prevalence of thrombosis Increase in the risk of thrombosis (x-fold)
APCR (heterozygous factor V Leiden mutation) 3-8% for Caucasians 20-25% 2-8x
APCR (homozygous factor V Leiden mutation) 1-2% for Caucasians 20-25% 25-80x
Prothrombin (heterozygous G20210A mutation) 2-3% for Caucasians 4-8% 2-6x
Antithrombin III deficiency (heterozygous mutation at 1q23-q25.1 gene locus) 1/2-5.000 1% 10-20x
protein C deficiency 1/300 2-10% 5-10x
protein S deficiency 1% 3% 2-12x

EtiopathogenesisThis section has been translated automatically.

The risk of thromboembolism is increased for:
  • Predisposing factors: obesity, pregnancy, oral contraception, surgery, trauma, smoking.
  • Underlying diseases: lupus erythematosus, systemic; phospholipid-antibody syndrome; leukemia; cardiac insufficiency.
  • Pregnancy: in women without previous thrombosis, the presence of APCR with heterozygous factor V Leiden or a heterozygous G20210A mutation in the prothrombin gene is associated with a risk of thrombosis during pregnancy of about 1:400 pregnancies. In the combined presence of both heterozygous diseases the risk of thrombosis increases to approx. 1:20 in pregnant women.
  • Women with protein C deficiency and especially antithrombin III deficiency have an increased risk of thrombosis (> 10%).

ManifestationThis section has been translated automatically.

Postnatal, in infancy, occurring in adolescents or young adults. Usually first thrombembolic event before the 45th LJ.

LocalizationThis section has been translated automatically.

Preferred location of thrombosis: deep leg / pelvic veins, mesenteric veins, portal vein.

Clinical featuresThis section has been translated automatically.

See phlebothrombosis, see arterial embolism below.

LaboratoryThis section has been translated automatically.

  • Standard: Thromboplastin time, APTT, fibrinogen and platelet count.
  • Depending on the clinical picture:
    • APC ratio
    • APCR: Factor V Leiden mutation analysis
    • Lupus anticoagulant
    • Anticardiolipin antibody
    • Antithrombin activity
    • Homocysteine activity
    • Factor VIII activity
    • protein C activity
    • Protein S activity
    • Prothrombin 20210 mutation analysis.

DiagnosisThis section has been translated automatically.

Medical history, clinic, lab. Rule out arterial embolisms.

Differential diagnosisThis section has been translated automatically.

Lupus anticoagulant, anticardiolipin antibody syndrome, acquired AT III deficiencies (e.g. nephrotic syndrome, intestinal protein loss, protein synthesis disorders of the liver).

TherapyThis section has been translated automatically.

According to clinic and laboratory, if necessary also the basic disease. S.a. anticoagulants.

LiteratureThis section has been translated automatically.

  1. Bloomenthal D et al (2003) The effect of factor V Leiden carriage on maternal and fetal health. CMAJ 167: 48-54
  2. Hegemann B, Helmbold P, March WC (2002) Livedoid vasculitis with ulcerations: the role of antithrombin III deficiency and its therapeutic consequences. Arch Dermatol 138: 841-842
  3. Hengge UR (2002) Purpura fulminans. A fatal consequence of a widely used medication? dermatologist 53: 483-487
  4. Infante-Rivard C (2003) Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. N Engl J Med 347: 19-25
  5. Jilma B et al (2003) ABC of antithrombotic therapy: Antithrombotic therapy in special circumstances. II-In children, thrombophilia, and miscellaneous conditions. BMJ 326: 93-96
  6. Meissner MH (2003) Venous thromboembolism in trauma: a local manifestation of systemic hypercoagulability? J Trauma 54: 224-231
  7. Miller A, Ruzicka T (2001) Differential diagnosis of leg ulcers. dermatologist 52: 593-603
  8. Monsuez JJ et al (2003) Deep venous thrombosis associated with factor V Leiden, G20210A mutation, and protein S deficiency. At J Med 114: 421-422
  9. Ornstein DL, Cushman M (2003) Cardiology patient page. Factor V Leiden. Circulation 107: e94-97
  10. Rey E et al (2003) Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 361: 901-908
  11. Blessed Son U, Lubetsky A (2001) Genetic susceptibility to venous thrombosis. N Engl J Med 344: 1222-1231
  12. Warkentin TE, Bernstein RA (2003) Delayed-onset heparin-induced thrombocytopenia and cerebral thrombosis after a single administration of unfractionated heparin. N Engl J Med 348: 1067-1069

Authors

Last updated on: 02.09.2022

Author: Prof. Dr. med. Peter Altmeyer