Spontaneous renal rupture caused by factor VII deficiency: A case report.

RATIONALE: Spontaneous renal rupture is an uncommon disease, it usually occurs after upper urinary calculi-related operation treatment or renal tumor. This disease caused by factor VII deficiency has rarely reported. PATIENT CONCERNS: A 49-year-old woman came to our hospital with on the left flank pain and gross hematuria that had persisted for 10 days. The patient had no recent history of waist and abdominal trauma or surgical history recently. DIAGNOSES: An outside computed tomography (CT) examination revealed left renal rupture before arriving at our hospital, but she was not treated. Further laboratory examination revealed that the patient condition was turned out to be hemophilia caused by factor VII deficiency. INTERVENTION: We have used both internal and external drainage methods, and supplemented with coagulation factor. OUTCOME: After 9 months of follow-up, it was observed that the left renal hematoma and urinary extravasation was completely absorbed. LESSONS: Spontaneous renal rupture for hemophilia is a clinical emergency. When spontaneous renal rupture is associated with abnormal coagulation function, and the coagulation function cannot be corrected by conventional treatment, the possibility of hemophilia needs to be considered, and the type of hemophilia needs to be further defined. This case indicates a successful resolution of spontaneous renal rupture, it can provide guiding value for our clinical practice.

Acquired Factor VII Deficiency Associated With Chronic Myeloid Leukemia Blast Crisis.

Factor VII (FVII) is an important, vitamin K-dependent clotting factor. Acquired FVII deficiency is a rare entity that is associated with serious bleeding complications. We report a case of acquired FVII deficiency in a patient with recurrent chronic myeloid leukemia in blast crisis who developed bilateral retinal hemorrhages. The coagulopathy was corrected with the initiation of chemotherapy and subsequent reduction in peripheral blast count.

Undiagnosed Factor VII Deficiency in Cardiac Surgery Complicated by Bleeding: A Case Report.

Rare bleeding disorders in the perioperative period call for targeted resuscitation strategies. Factor VII deficiency, for instance, is often corrected with exogenous administration of recombinant factor VIIa. This activated clotting factor, initially designed for patients with hemophilia A or B with factor inhibitors, is gaining popularity as a salvage therapy for severe and persistent traumatic and surgical bleeding. This article describes the management of a cardiothoracic surgical patient with undiagnosed isolated factor VII deficiency who experienced significant postoperative bleeding which subsided after the administration of recombinant factor VIIa. In this case, EXTEM failed to detect a clotting factor deficiency.

Acute Thrombotic Events in Association With Coronavirus Disease of 2019 Immunization as Initial Presentation of Congenital Factor VII Deficiency.

Coagulation factor VII (FVII) deficiency is a congenital disorder with heterogeneous clinical phenotypes ranging from asymptomatic to life-threatening bleeding and/or thrombotic events. We present the case of an adolescent male who developed acute deep and superficial venous thromboses of the upper extremities in the setting of multiple peripheral venous line insertions and shortly after receiving his second coronavirus disease of 2019 immunization dose. A hemostatic work-up revealed low FVII activity levels associated with 4 different FVII genetic variants. We highlight the need to better understand the pathophysiologic mechanisms behind FVII deficiency-associated prothrombotic risk and the role that specific FVII genetic variants may play in the clinical presentation of these patients.

Acquired isolated factor VII deficiency in a patient with myxoid pleomorphic liposarcoma, case report.

INTRODUCTION: Acquired factor VII (FVII) deficiency is a rare condition with various causes, including acquired inhibitors to FVII, liver disease, and malignancies. Myxoid pleomorphic liposarcoma is a rare and aggressive form of soft tissue sarcoma that can cause a range of clinical manifestations, including bleeding and clotting disorders. PATIENT CONCERNS AND DIAGNOSIS: We present a case report of a 21-year-old man with severe acquired FVII deficiency due to mediastinal myxoid pleomorphic liposarcoma. The patient presented with elevated International normalized ratio (INR) and a severe reduction in FVII coagulant activity, unresponsive to conventional therapy. While an acquired inhibitor to FVII was initially suspected, negative results from laboratory testing, including protein G sepharose adsorption and a Bethesda assay using Immunoglobulin G purified from patient plasma, made the diagnosis of an acquired inhibitor to FVII uncertain. INTERVENTIONS AND OUTCOME: The patient underwent surgical resection of the tumor, supported by recombinant FVII infusion, leading to the normalization of coagulation parameters. However, a relapse of the disease was detected 6 months later when he was noted to have a decline in FVII levels. CONCLUSION: This case highlights the importance of considering rare causes of bleeding and clotting disorders, particularly in unresponsive or atypical presentations. It also underscores the need for close monitoring and follow-up in patients with acquired FVII deficiency, even after successful treatment.

High Prevalence of Congenital Factor VII (FVII) Deficiency in Adolescent Females with Heavy Menstrual Bleeding and Iron Deficiency Anemia.

STUDY OBJECTIVE: To examine the clinical characteristics and prevalence of congenital bleeding disorders (CBDs), with emphasis on congenital factor VII (FVII) deficiency and other rare bleeding disorders, in adolescent and young adult females referred to a hemophilia treatment center (HTC) for evaluation and management of heavy menstrual bleeding (HMB) and iron deficiency anemia (IDA) DESIGN: In this single-center retrospective study, we reviewed the clinical characteristics and prevalence of CBDs in postmenarchal females, younger than 22 years of age, referred to an HTC from 2015 to 2021 for evaluation of HMB with or without IDA. RESULTS: One hundred females, with a mean age of 15 years (range 9-20 years), met initial study criteria, and 95 were included in the final analysis. Forty-five (47%) females were ultimately diagnosed with a CBD. The most prevalent diagnoses were FVII deficiency and type 1 von Willebrand disease (VWD) (42.3%, n = 19 each). Forty-two percent of patients with FVII deficiency had a low-for-age FVII activity level, 21.1% were only positive for the FVII R353Q variant associated with borderline FVII levels, whereas 36.8% had both a low-for-age FVII activity level and a positive R353Q variant. Eighty percent of patients with a CBD were found to have relatives with abnormal bleeding symptoms. CONCLUSION: Congenital FVII deficiency is prevalent among female adolescents experiencing HMB with or without IDA. In addition to VWD, evaluation for this specific factor deficiency should be considered as part of the initial CBD workup. Presence of abnormal bleeding history in the family could also help to predict presence of a CBD.

Acquired Factor VII Deficiency Presenting with Bleeding Diathesis in a 52-Year-Old Black Man in Botswana.

BACKGROUND: Factor VII is one of the vitamin K-dependent coagulation factors synthesized in the liver and has a short circulating half-life of 4 - 5 hours. METHODS: We report a case of a 52-year-old black man who presented with life-threatening bleeding from multiple sites. RESULTS: We determined that it was caused by acquired factor VII deficiency of less than 5%. He had a septic pelvic focus which was managed empirically with antibiotics. The bleeding was stopped by fresh frozen plasma and factor VII plasma levels gradually increased to normal levels over the course of 4 months. CONCLUSIONS: We emphasize the importance of extensive evaluation including septic, autoimmune, and malignant work-up in patients with new onset acquired bleeding.

Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review.

BACKGROUND: Congenital factor VII (FVII) deficiency is a rare inherited autosomal recessive disorder characterized by prolongation of prothrombin time and low FVII coagulation activity, which may increase the risk of bleeding. CASE PRESENTATION: A 66-year-old man with acute postoperative intracranial hemorrhage was transferred to our hospital owing to coagulation dysfunction. In coagulation tests, the FVII coagulation activity was less than 2%. Genetic analysis of the gene encoding FVII identified compound heterozygous mutations: c. 681+1 G>T and c. C1286T (p. Ala429Val). CONCLUSIONS: To our knowledge, this is the first report describing the c. C1286T (p. Ala429Val) mutation in the FVII-encoding gene. We suggest that these mutations resulted in the reduced FVII activity and abnormal clotting in our patient after brain surgery.

Acquired FVII Deficiency and Acute Myeloid Leukemia: A Case Report and Literature Review.

Factor VII (FVII) deficiency is the most common among all rare inherited bleeding disorders. However, acquired FVII deficiency (aFVIID) is uncommon. Only few cases in the literature have been reported. Herein, we present a case of an aFVIID associated with acute myeloid leukemia (AML), along with a literature review regarding this condition. A 50 year old Arab male patient was diagnosed with AML at the hematology department of our institution. At admission, coagulation tests showed a prolonged prothrombin time (PT) with a normal activated partial thromboplastin time (aPTT) and a slightly elevated fibrinogen level. Prothrombin complex coagulation factors dosing (PCCFD) revealed a decrease only in FVII levels. The patient, however, did not experience any bleeding. The evolution of the health of the patient was marked by a normalization of PT and FVII levels and complete remission.

Severe Congenital Factor VII Deficiency with Normal Perioperative Coagulation Profile Based on ROTEM Analysis in a Hepatectomy.

BACKGROUND Factor VII (FVII) deficiency is the most common autosomal-recessive bleeding disorder. FVII activity level (FVII: C) of 10-20% is often used as the threshold for administering activated recombinant FVII (rFVIIa) for patients undergoing major surgery. However, rFVIIa is expensive and carries the risk of a thromboembolic event, and thus should only be administered when truly indicated. CASE REPORT A 22-year-old woman with 8% FVII: C underwent a hepatectomy. Although there were no clinical signs of bleeding, peri-operative administration of rFVIIa was recommended by the hematologist (first dose at surgical incision, then 4 h later, then every 12 h until 48 h postoperatively). Intraoperatively, serials of ROTEM analysis were performed to evaluate the effect of rFVIIa administration. No significant effect of rFVIIa was seen on NATEM. Surgery was unremarkable, without any significant blood loss. The patient developed radial artery thrombosis 24 h postoperatively, the arterial line was removed, and rFVIIa was discontinued (PT: 14.6, FVII: C 36%). On POD 3, INR was elevated (3.15, FVII: C 3%). To correct INR, the patient was transfused 8 units of FFP, despite any signs of clinical bleeding. However, INR and FVII: C did not correct and the patient was discharged on POD 7 in a stable condition. CONCLUSIONS Even with FVII: C of 8%, the ROTEM analysis revealed a normal coagulation status. The administration of rFVIIa did not improve the already normal baseline coagulation profile, but rather potentially led to an accelerated coagulation or hypercoagulable state and may have led to the radial artery thrombosis. We endorse the use of viscoelastic testing for hemostasis assessment and factor replacement in congenital FVII deficiency.

Aortic valve and coronary artery bypass surgery in a patient with factor VII deficiency.

Congenital factor VII (FVII) deficiency is a rare bleeding disorder (RBD) with phenotypes ranging from asymptomatic state to life threatening bleeding episodes. There is no established recommendation for the perioperative management of patients scheduled for cardiac surgery. We have described the perioperative management of a patient with FVII deficiency treated for aortic valve stenosis, coronary artery disease, and atrial fibrillation. Balancing perioperative bleeding risk and risks of thrombotic events thereafter in such patients is difficult and requires a multidisciplinary approach.

Accidentally discovered high INR in pregnancy unmasks an inherited factor VII (FVII) deficiency that is paradoxically associated with thrombotic tendency.

A 32-year-old multiparous obese woman was referred to our center at 37 weeks of twin gestation. She was referred for birth planning following an accidentally discovered high international normalised ratio (INR) in routine preoperative labs. Her history was significant for recurrent pregnancy-associated deep venous thrombosis as well as two early pregnancy losses. Further work-up revealed transaminitis, mild splenomegaly and high lupus anticoagulant titre. A multidisciplinary team of physicians from the high-risk pregnancy, anaesthesiology, haematology, gastroenterology and hepatology departments put a management plan; it culminated into uncomplicated delivery of the patient by repeated caesarian section. The team was also able to figure out the cause of the patient's high INR that is associated with thrombophilia rather than haemophilia.

Successful Splenectomy Management in a Patient With Moderate Factor VII Deficiency and Concomitant Severe Hereditary Spherocytosis.

By the advent of the effective therapies for many coagulation diseases and hereditary spherocytosis (HS), patient's survival has been improved significantly; however, if patients are diagnosed late or left untreated, both diseases could ominously be life threatening. Concurrent occurring of factor VII (FVII) deficiency and HS is extremely rare and there is no literature report that explain this condition, thus far. In this study, we confronted a 9-year-old female patient diagnosed with HS and enlarged spleen as a result of this blood disorder. Given to her sever signs and symptoms of splenomegaly, she was candidate for emergent splenectomy. However, assessment of coagulation tests revealed a prolonged prothrombin time, suggesting the moderate FVII deficiency. With a multidisciplinary consultation, we decided to performed total splenectomy with prophylaxis administration of totally 6 doses of active recombinant FVII, initiated 1 hour before surgery and followed until 30 hours postoperation. As a result of cautious undertaken in Mofid Children's Hospital, the patient did not experience any hemostatic defect. Patient is now 14-year-old, generally well-being under regular surveillance of FVII deficiency.

Unprovoked Pulmonary Embolism in Factor VII Deficiency.

Thrombotic events in bleeding disorders such as hemophilia A or B, Von Willebrand disease, afibrinogenemia, factor VII deficiency, and factor XI deficiency are rare but have been reported. These events usually occur in the presence of prothrombotic risk factors such as recent surgery, trauma, or factor replacement therapy. We present a case of a 68-year-old Hispanic female with a history of factor VII deficiency who presented with shortness of breath, chest pain, and palpitations and was found to have pulmonary embolism. Our patient did not have any of the above-mentioned thrombotic risk factors. Our case and review of the literature show that factor VII deficiency does not provide protection against thrombosis.

Factor VII deficiency: do all need replacement for cardiac surgery?

In cardiac surgery, supplementation with recombinant factor VIIa is the treatment of choice for patients with factor VII deficiency, but overzealous administration can be associated with thromboembolic side-effects. A 53-year-old man with factor VII activity 15.2%, international normalized ratio 2.9, and acute thrombotic critical coronary anatomy, underwent coronary artery bypass surgery and a thoracotomy with decortication 5 months later. He was managed successfully without recombinant factor VIIa supplementation. This case demonstrates that current bedside and laboratory tests such as thromboelastography, prothrombin time or international normalized ratio, and factor VII activity may not predict replacement therapy in these patients.

Two-incision laparoscopic appendectomy for a severe hemophilia A child patient with coagulation factor VII deficiency: Case report and review of literature.

RATIONALE: The main complication of patients with severe hemophilia is recurrent bleeding events that usually affected musculoskeletal contractures. And replacement therapy methods were continuously improved to minimize adverse impacts brought by those complications. However, only several cases reported about the appendectomy for hemophilia A. We report a case of acute appendicitis treated by two-incision laparoscopy in a boy with hemophilia A and coagulation factor VII deficiency for the first time. PATIENT CONCERNS: An 8y7m-old Chinese boy presented with half a day of right sided abdominal pain, fever, nausea, and vomiting. DIAGNOSES: He received a computed tomography (CT) scan which revealed an enlarged appendix, thickened wall and appendiceal fecalith, and had received a conservative anti-bacterial treatment for his acute appendicitis but failed. He was diagnosed with hemophilia A and coagulation factor VII deficiency. INTERVENTIONS: Two-incision laparoscopic appendectomy was made in success with a careful management of perioperative period. We monitored the clotting factor FVIII level and gave him a replacement therapy. OUTCOMES: The patient had an uneventful recovery. LESSONS: It is important to exclude intraabdominal or retroperitoneal hemorrhage in patients suffering from hemophilia and acute abdominal pain. Pre-operative evaluation of validity of the FVIII replacement therapy is another effective strategy to assess the safety and feasibility of applying an operation procedure. The two-incision laparoscopic appendectomy is an effective treatment for this kind of patients for its minimal trauma and fast recovery characteristics. Our report shows that laparoscopic appendectomy is feasible in a child suffering from hemophilia after adequate blood clotting factor replacement treatment.