Background: Factor V Leiden (FVL) results from a mutation in the F5 gene, which encodes the coagulation factor V protein, increasing the risk of venous thromboembolism (VTE). Only 5-10% of FVL heterozygotes will experience VTE during their lifetime. The reasons for the highly variable phenotype are incompletely understood.
Aims: Description of a heterozygote FVL with a catastrophic clinical presentation.
Methods: Collection of clinical data in SClínico® application.
Results: Woman, 26 years old, with overweight and estrogen-containing oral contraceptive as medical history, developed on august 2020, mild dyspnoea, with sudden worsening at the 5th day of symptoms, culminating in cardiopulmonary arrest. Prehospital resuscitation was successfully performed. At the emergency room admission, the electrocardiogram and echocardiogram showed S1;T3 and right ventricle dilatation. Pulmonary embolism with obstructive shock was suspected and alteplase thrombolysis performed. Computed tomography angiography confirmed the diagnosis: extensive bilateral acute pulmonary embolism, with left and right lobar arteries thrombosis. She was admitted to the Intensive Care Unit (ICU) and hypocoagulant treatment with unfractionated heparin was iniciated. The patient presented a favourable evolution and was discharged from ICU 4 days later. She remained hospitalized for 4 more days. Deep vein thrombosis was excluded and age-appropriate cancer screening was negative. There was a progressive clinical improvement under hypocoagulant treatment, first with low molecular weight heparin and later with apixaban, which she maintained after discharge.
Following the acute event, thrombophilia study was performed and a heterozygosity for FVL diagnosed with genetic testing. Nowadays, she maintains follow-up, hypocoagulated with apixaban, without haemorrhagic events, with non-estrogen-containing contraceptive and with a complete recovery of the cardiopulmonary function.
Conclusions: A patient with heterozygosity for FVL, without a personal and family history of thrombosis, presents as an initial manifestation of a multifactorial disease a life-threatening event. With this case, we intend to highlight that, although rare, these severe events can unfortunately occur.
To cite this abstract in AMA style:
Pombal R, Vieira L, Lopes S, Neto R, Gomes H, Figueiredo M. Heterozygosity for factor V Leiden with a Catastrophic Presentation [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/heterozygosity-for-factor-v-leiden-with-a-catastrophic-presentation/. Accessed March 22, 2024.« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/heterozygosity-for-factor-v-leiden-with-a-catastrophic-presentation/