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HELLP syndrome associated with factor V R506Q mutation

B Brenner1, N Lanir, I Thaler

  • 1Thrombosis and Haemostasis Unit, Rambam Medical Centre, Haifa, Israel.

British Journal of Haematology
|March 1, 1996
PubMed
Summary
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HELLP syndrome, a severe form of pre-eclampsia, may be linked to blood clotting issues. Two patients with HELLP syndrome had a genetic mutation causing activated protein C resistance, suggesting a thrombotic link.

Area of Science:

  • Obstetrics and Gynecology
  • Hematology
  • Reproductive Medicine

Background:

  • HELLP (haemolysis, elevated liver enzyme, low platelet count) syndrome is a severe complication of pre-eclampsia with unknown pathogenesis.
  • Activated protein C resistance due to factor V R506Q mutation is a known cause of pregnancy-related thrombosis.

Observation:

  • Two patients diagnosed with HELLP syndrome were investigated.
  • Both patients were found to be heterozygous for the factor V R506Q mutation.

Findings:

  • The presence of the factor V R506Q mutation in HELLP syndrome patients indicates activated protein C resistance.
  • This suggests a potential thrombotic basis for the development of HELLP syndrome.

Implications:

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  • The findings link HELLP syndrome pathogenesis to thrombotic processes.
  • This may indicate that anti-thrombotic therapies could be beneficial for managing HELLP syndrome.