|Year : 2018 | Volume
| Issue : 2 | Page : 72-74
Severe Factor X deficiency and successful pregnancy outcome: A rare case
Debraj Basu1, Prakas Kumar Mandal2, Mostafa Kamal1
1 Department of Gynaecology and Obstetrics, NRS Medical College, Kolkata, West Bengal, India
2 Department of Hematology, NRS Medical College, Kolkata, West Bengal, India
|Date of Web Publication||18-Jun-2018|
Dr. Prakas Kumar Mandal
8C/1/N, Roy Para Road, Kolkata - 700 050, West Bengal
Source of Support: None, Conflict of Interest: None
Factor X (FX) is a Vitamin K-dependent, serine protease produced by the liver that serves pivotal role as the first enzyme in the so-called common pathway of coagulation cascade in fibrin formation. Inherited FX deficiency is a rare autosomal recessive bleeding disorder that is found in 1:1,000,000 individuals. Classification of severity is based on FX coagulant activity. Specific FX replacement product is not yet readily available, but fresh frozen plasma (FFP) and prothrombin complex concentrates can be used for treatment of bleeding symptoms and preparation for surgery. Here, we reemphasize the approach to a patient with severe FX deficiency, who had a successful pregnancy outcome through the rationale use of FFP.
Keywords: Factor X deficiency, fresh frozen plasma, pregnancy outcome
|How to cite this article:|
Basu D, Mandal PK, Kamal M. Severe Factor X deficiency and successful pregnancy outcome: A rare case. J Appl Hematol 2018;9:72-4
| Introduction|| |
Factor X (FX) deficiency is a rare disorder with an estimated incidence of 1 in 1,000,000 individuals. It was identified in the 1950s in two patients named Stuart and Prower by two independent groups of researchers; hence, the phrase Stuart–Prower deficiency was used to describe FX deficiency. FX deficiency has an autosomal recessive inheritance and is more common in populations in which consanguineous marriage is common. FX deficiency produces a variable bleeding tendency depending on the FX coagulant (FX: C) activity: severe (FX: C, <1%), moderate (FX: C, 1%–5%), and mild (FX: C, 6%–30%). Severe clinical symptoms, such as intracranial hemorrhage, gastrointestinal bleeding, and hemarthrosis, were found with severe form of disease. There are only a few published case reports of women with FX deficiency with successful pregnancy outcome, each with a unique clinical course and management. In the present case, we describe the management of a patient with severe FX deficiency who underwent successful pregnancy and delivery by minimizing hemostatic risks through rational treatment.
| Case Report|| |
A 31-year-old female was diagnosed with severe FX deficiency (FX level <1%) in 2007 at the age of 21 years when she presented with symptoms of menorrhagia and anemia requiring red cell transfusions. Earlier, she remained symptom free, except few occasions of menorrhagia which was treated with oral tranexamic acid. She had no previous episodes of significant bleed. Despite the potential risk of a life-threatening bleed, which was discussed in details, the patient conceived at the age of 30 years. Throughout the pregnancy, the patient was monitored closely by high-risk obstetrics and hematology team. Her first trimester of pregnancy remained uncomplicated. Subsequently, she was followed up with close observation, with plans to initiate treatment with factor replacement when the patient showed the first signs of labor. FX concentrate was not available; therefore, fresh frozen plasma (FFP) was chosen for replacement therapy. At 39 weeks, the patient was admitted for observation and institutional delivery. Her prothrombin time was 48.7 s (control = 11.8 s) and activated partial thromboplastin time (APTT) was 69.1 s (control = 32 s). Following admission, the patient received 28 units of FFP over a period of 7 days prophylactically and prothrombin time came down to 12.1 s (control = 11.4 s) and APTT was 34.5 s (control = 33 s). The patient was monitored in the hospital for spontaneous labor. She became postdated and liquor volume reduced significantly; lower segment cesarean section was done under general anesthesia with peroperative FFP transfusion and injection tranexamic acid. Finally, she gave birth to a healthy baby girl. Estimated blood loss was approximately 800 ml. In the postpartum period, she received further units of FFP till the 3rd postoperative day. She was continued with FFP till the 3rd postoperative day with no further bleeding complications and was discharged on the 7th postpartum day.
| Discussion|| |
There are only a few cases with FX deficiency described in the literature with successful pregnancy outcome. Pregnancy in a patient with FX deficiency is very challenging as it may get complicated by recurrent miscarriages, preterm labor, and retroplacental hematomas. The first case was reported by Brody and Finch in 1960. In pregnancy, the normal physiologic response is for a rise in FX levels to a peak of 163% of normal activity at 30 weeks. A second rise in FX levels to 173% of normal activity occurs 144 h postpartum. The FX levels subsequently fall, returning to normal approximately 6 weeks following delivery. In a study with patients with severe FX deficiency, there was no improvement in the clotting factor deficiency with pregnancy. Konje et al. described a 22-year-old female with FX deficiency whose pregnancy was complicated by recurrent retroplacental hematomas. This patient was treated with Bio Product Laboratory Factor IXA infusions, which is rich in FX (contains 500 IU FX, 500 IU antithrombin III, 550 IU Factor IX A, 600 IU Factor II, and 5,000 IU heparin). Treatment was complicated by two transient episodes of chest pain and shortness of breath of uncertain cause. A healthy baby was delivered at 39 weeks by cesarean section. Kumar and Mehta  reported a case of four pregnancies in a woman with FX deficiency. The patient's first two pregnancies ended in premature labor and delivery at 21 and 25 weeks. The babies died in the neonatal period. The patient was treated with FFP for acute bleeding episodes and received factor concentrate prophylactically during the last period of the second pregnancy. During the following two pregnancies, the patient was treated with prophylactic FX early in pregnancy. She again developed premature labor, had tocolysis, and eventually gave birth to healthy 34-week-old and 32-week-old babies, respectively. Bofill et al. described a 23-year-old female with FX deficiency who received no factor replacement treatment during the antenatal period. During labor and first postpartum day, the patient was treated with FFP. She had no excessive bleeding and the baby was healthy. Recently, Mamopoulos et al. reported a 34-year-old female with severe FX deficiency initially tried for normal delivery, finally went into cesarean section under the full coverage of FFP with successful pregnancy outcome. Review of these very limited literatures demonstrates the heterogeneity of the clinical course of patients with FX deficiency and successful pregnancy outcome. Consideration of pregnancy in patients with FX deficiency requires a detailed discussion of the potential risks associated with pregnancy and the uncertainty of presentation and outcome. In the present case, judicious use of FFP alleviates hemorrhagic risks.
| Conclusion|| |
The present case highlights the management of a patient with severe FX deficiency who had a successful pregnancy outcome in a resource-constrained country through the rational use of FFP, thereby minimizing the hemorrhagic risks to the mother as well as the fetus.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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