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Prothrombin 20210 (Mutation)

Katyayini Aribindi, MD, Adrian DaSilva-DeAbreu, MD and Raymundo A. Quintana, MD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • The G20210A is a gain of function mutation where adenine is substituted for a guanine at the 20210 noncoding position of the prothrombin (a.k.a. factor II) gene.

  • Prothrombin 20210 mut...

DIAGNOSIS

HISTORY

  • Previous VTE

  • Family history of VTE

  • Family history of prothrombin 20210 mutation

PHYSICAL EXAM

  • Unilateral swollen, erythematous, and tender calf is significant for a possible DVT.

  • Positive ...

TREATMENT

GENERAL MEASURES

Management of patients with a first-time VTE with or without an acquired thrombophilic condition remains overall very similar. 

MEDICATION

Is directed to treat those patients w...

ONGOING CARE

  • Compression stockings for prevention

  • DVT prophylaxis as appropriate if patient admitted to hospital

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Warfarin use requires periodic (weekly and the...

REFERENCES

1
Vazquez F, Rodger M, Carrier M, et al. Prothrombin G20210A mutation and lower extremity peripheral arterial disease: a systematic review and meta-analysis. Eur J Vasc Endovasc Surg.  ...

ADDITIONAL READING

  • Kearon C, Akl EA. Duration of anticoagulant therapy for deep vein thrombosis and pulmonary embolism. Blood.  2014;123(12):1794–1801. [View Abstract on OvidMedline]

  • Moll S. Throm...

CODES

ICD10

D68.52 Prothrombin gene mutation 

ICD9

289.81 Primary hypercoagulable state 

SNOMED

  • 440989002 prothrombin G20210A mutation (disorder)

  • 441421001 Heterozygous prothrombin G20210A mutation

  • 441420000...

CLINICAL PEARLS

  • Prothrombin 20210 mutation is the second most common inherited risk factor for VTE after factor V Leiden mutation.

  • Asymptomatic patients with prothrombin 20210 mutation do not need anti...

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