Prothrombin G20210A

Source: Wikipedia, the free encyclopedia.
(Redirected from
Prothrombin mutation G20210A
)
Prothrombin G20210A
Other namesProthrombin thrombophilia,
Blood clots[1]
Frequency2% (Caucasians)[1]

Prothrombin G20210A is a

genetic condition that increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism.[1] One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000.[1] Two copies increases the risk to up to 20 in 1,000 per year.[1] Most people never develop a blood clot in their lifetimes.[1]

It is due to a specific

prothrombin gene. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden
.

Prothrombin G20210A was identified in the 1990s.

better source needed
]

Signs and symptoms

The variant causes elevated plasma

coronary disease.[6] Deficiencies in the anticoagulants Protein C and Protein S further increase the risk five- to tenfold.[2] Behind non-O blood type[7] and factor V Leiden, prothrombin G20210A is one of the most common genetic risk factors for venous thromboembolism (VTE).[4] Increased production of prothrombin heightens the risk of blood clotting. Moreover, individuals who carry the mutation can pass it on to their offspring.[8]

The mutation increases the risk of developing deep vein thrombosis (DVT),[9] which can cause pain and swelling, and sometimes post-thrombotic syndrome, ulcers, or pulmonary embolism.[10] Most individuals do not require treatment but do need to be cautious during periods when the possibility of blood clotting are increased; for example, during pregnancy, after surgery, or during long flights. Occasionally,

blood-thinning medication may be indicated to reduce the risk of clotting.[11]

A 2005 article concluded that heterozygous carriers who take

heterozygous with factor V Leiden have an approximate 20-fold higher risk.[2]A more recent and larger study in 2023, however, concluded that heterozygous carriers had a 5.23x-increased risk, and those with both factors a 6.35x risk.[13] In a recommendation statement on VTE, genetic testing for G20210A in adults that developed unprovoked VTE[a] was disadvised, as was testing in asymptomatic family members related to G20210A carriers who developed VTE.[14] In those who develop VTE, the results of thrombophilia tests (wherein the variant can be detected) rarely play a role in the length of treatment.[15]

Cause

The classical blood coagulation pathway
SNP: rs1799963
HapMap
1799963
SNPedia1799963

The polymorphism is located in a

poly-A tail attached.[5]

Diagnosis

Diagnosis of the prothrombin G20210A mutation is straightforward because the mutation involves a single base change (point mutation) that can be detected by genetic testing, which is unaffected by intercurrent illness or anticoagulant use.[citation needed]

Measurement of an elevated plasma prothrombin level cannot be used to screen for the prothrombin G20210A mutation, because there is too great of an overlap between the upper limit of normal and levels in affected patients.[17]

Treatment

Patients with the prothrombin mutation are treated similarly to those with other types of thrombophilia, with anticoagulation for at least three to six months. Continuing anticoagulation beyond three to six months depends on the circumstances surrounding thrombosis, for example, if the patient experiences a thromboembolic event that was unprovoked, continuing anticoagulation would be recommended. The choice of anticoagulant (warfarin versus a direct oral anticoagulant) is based on a number of different factors (the severity of thrombosis, patient preference, adherence to therapy, and potential drug and dietary interactions).[18]

Patients with the prothrombin G20210A mutation who have not had a thromboembolic event are generally not treated with routine anticoagulation. However, counseling the patient is recommended in situations with increased thrombotic risk is recommended (pregnancy, surgery, and acute illness). Oral contraceptives should generally be avoided in women with the mutation as they increase the thrombotic risk.[19]

Terminology

Because

factor II
, the mutation is also sometimes referred to as the factor II mutation or simply the prothrombin mutation; in either case, the names may appear with or without the accompanying G20210A location specifier (unhelpfully, since prothrombin mutations other than G20210A are known).

Notes

  1. ^ Provoked VTE is triggered by situations such as surgery, trauma, cancer, or immobility.
  2. ^ Specifically, position 20210 refers to the nucleotide on the sense strand downstream from the DNA that codes for the start codon (ATG, positions 1 to 3).[16]

References

  1. ^ a b c d e f g h "Prothrombin thrombophilia". MedlinePlus. Retrieved 12 March 2018.
  2. ^
    S2CID 27104496
    .
  3. better source needed
    ]
  4. ^
    S2CID 34486553
    .
  5. ^
    PMID 8916933
    .
  6. S2CID 22806065
    .
  7. S2CID 2624599
    .
  8. PMID 15262854
    .
  9. S2CID 41043925
    .
  10. S2CID 3454404
    .
  11. S2CID 2538482
    .
  12. S2CID 37220302
    .
  13. PMID 37734636.{{cite journal}}: CS1 maint: multiple names: authors list (link
    )
  14. PMID 21150787. Archived from the original on 31 October 2021. Retrieved 27 February 2020.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link
    )
  15. S2CID 6925903
    .
  16. PMID 2825773
    .
  17. ^ "UpToDate".
  18. ^ Kearon C, Akl EA, Ornelas J, et al. Antithrombotic Therapy for VTE Disease: CHEST Guideline and Expert Panel Report. Chest 2016; 149:315.
  19. ^ Bauer, K.A.(2018). Prothrombin G20210A mutation. In T.W. Post, P. Rutgeerts, & S. Grover (Eds.), UptoDate. Available from https://www.uptodate.com/contents/prothrombin-g20210a-mutation?search=prothrombin%20gene%20mutation&source=search_result&selectedTitle=1~103&usage_type=default&display_rank=1#H3703116740

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Prothrombin_G20210A&oldid=1218610789"