August 1, 1996BloodOpen Access

Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis

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Why the study?

Does double heterozygosity for factor V R506Q and protein C T298M mutations increase the risk of venous thromboembolism compared to single or no mutations in a family with hereditary thrombophilia?

Structured PICO

Does double heterozygosity for factor V R506Q and protein C T298M mutations increase the risk of venous thromboembolism compared to single or no mutations in a family with hereditary thrombophilia?

Population

46 members of a family of a previously described homozygous protein C-deficient newborn with massive thrombosis

Intervention

Double heterozygosity for protein C deficiency (T298M mutation) and activated protein C resistance (factor V R506Q mutation)

Comparator

Heterozygosity for only the protein C mutation, only the factor V mutation, or neither mutation

Outcome

Venous thromboembolism (VTE)hard clinical

The coexistence of heterozygous protein C deficiency and factor V Leiden mutation significantly increases the risk of venous thromboembolism, supporting the multigenic nature of hereditary thrombophilia.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Double heterozygosity was associated with VTE in this family; supports multigenic thrombophilia but leaves generalizability open.

Cite This Study

Brenner et al. (1996) studied this question.

synapsesocial.com/papers/6a79d4e71ba4614d7ff3acd5 https://doi.org/10.1182/blood.v88.3.877.877

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Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis

Structured PICO

Discussion

Implication

Cite This Study

Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider