Abstract Number: PB1178
Meeting: ISTH 2020 Congress
Theme: Hemophilia and Rare Bleeding Disorders » Rare Bleeding Disorders
Background: Inherited factor VII deficiency (FVIID) is the most frequent among the rare congenital coagulation disorders and clinical expression poorly correlates with FVII residual activity. Paradoxically, FVII deficiency does not protect against thrombotic events, with a reported incidence about 3-4% of thrombotic events. At present, there is limited evidence about management of the anticoagulation therapy in these patients, being an important challenge in clinical practice.
Aims: Providing data about management of the anticoagulant therapy in FVIID.
Methods: We report three cases of patients with FVIID receiving anticoagulant treatment followed at our hematology service.
Results:
Case 1: A 28-year-old female with mild FVIID presents a pulmonary thromboembolism in the context of taking estrogen-progestin oral contraceptives and obesity, initiating oral antiacoagulant therapy (OAT) with acenocoumarol.
Case 2: A 35-year-old female was diagnosed with inherited protein S deficiency in 1999. In 2010, she had an abortion, developing deep venous thrombosis later, initiating acenocoumarol. Despite this, she had an extensive venous thrombosis and she was diagnosed of FVIID, starting with rivaroxaban, which was switched by dabigatran for osteopenia. Moreover, the thrombophilia study revealed that she was a heterozygous carrier of G20210A polymorphism at the prothrombin gene.
Case 3: A 71-year-old man was diagnosed of mild FVIID and he was taking acenocumarol because of atrial fibrillation (AF). In 2015, he suffered a cardiorespiratory arrest because of AF with complete heart block, and a permanent pacemaker implantation was performed with tranexamic acid treatment. Four years later, he was diagnosed with squamous cell lung cancer, after mediastinoscopy performed with acid tranexamic too.
Conclusions: We provide our institution’s experience about management of anticoagulant therapy in patients with FVII deficiency. Fortunately, none of the patients present bleeding events, but these case reports reveal the need of further studies and data from large case series in order to shed light on this issue.
PATIENT | AGE | SEX | FVII LEVEL | ISTH-BAT | MUTATION FVII GENE | THROMBOSIS TYPE | ANTICOAGULANT THERAPY | RISK FACTORS FOR THROMBOSIS | FOLLOW -UP (years) |
1 | 28 | F | 28% | 3 | PENDING RESULT | PULMONARY THROMBOEMBOLISM | ACENOCUMAROL | -Estrogen-progestin oral contraceptives. -Obesity. | 19 |
2 | 35 | F | 15% | 0 | -F7 Gene: splicing mutation in heterozygosis (c.DNA:c803 805+1delTGGG) -PROS1 Gene: splicing mutation in heterozygosis (c.DNA:C.1919T>C, protein pMet640Thr) -G20210A POLYMORPHISM OF F2 (PROTHROMBIN) GENE (heterozygous carrier) | -DEEP VEIN AND PULMONARY THROMBOSIS -VENOUS THROMBOSIS IN INFERIOR VENA CAVA, ILIAC AND GONADAL VEINS. | 1º ACENOCUMAROL 2º RIVAROXABAN 20 mg 3º DABIGATRAN 150 mg | -Abortion. -Trombofilia. | 10 |
3 | 71 | M | 31% | 3 | PENDING RESULT | – | ACENOCUMAROL | -Atrial fibrillation -Lung cancer -Arterial Hypertension. -Dyslipidemia. -Diabetes | 10 |
[FVII Deficiency patients’ characteristics]
To cite this abstract in AMA style:
Moriano B, Bermejo N, Rodriguez A, Espina M, Ramos L, Arcos MJ, Casas I, Ferre O, Carnicero F, Caceres S, Cardesa R, Ibañez F, Bergua J. Long-Term Anticoagulant Treatment in Patients with Factor VII Deficiency: A Single Centre’s Experience [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/long-term-anticoagulant-treatment-in-patients-with-factor-vii-deficiency-a-single-centres-experience/. Accessed March 21, 2024.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/long-term-anticoagulant-treatment-in-patients-with-factor-vii-deficiency-a-single-centres-experience/