Combined factor V and factor VIII deficiency (F5F8D) is an exceedingly rare autosomal recessive disease that causes concomitantly low levels of factor V and factor VIII, leading to mild to moderate bleeding tendencies. Within this disorder, mutations manifest in the lectin mannose-binding protein (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) genes. This report presents a case of a five-year-old Saudi female child who was referred from an otolaryngology clinic, with an incidental finding of prolonged prothrombin time (PT), international normalized ratio (INR), and activated partial thromboplastin time (aPTT) detected during routine preoperative investigations for tonsillectomy, prompting further investigations. There was no prior history of bleeding symptoms in the patient. She was discovered to have low assays of factor V and factor VIII on subsequent investigations. Whole exome sequencing revealed the novel homozygous mutation c.604C>T in the LMAN1 gene, validating the diagnosis of F5F8D.

BACKGROUND: Coagulation factor V deficiency is rare, and perioperative management of patients with this condition is particularly important, especially during major abdominal surgery. We present a case of a patient with pancreatic duct stones combined with coagulation factor V deficiency. We share our perioperative management experience.
METHODS: A 31-year-old man presented with recurrent upper abdominal pain for 2 years.
METHODS: The diagnosis of pancreatic duct stones in the patient has been established through abdominal computed tomography and magnetic resonance imaging examinations. The diagnosis of factor V deficiency was initially identified through coagulation function tests, revealing significant prolongation of both aPTT and PT. Subsequent testing of coagulation factors and inhibitors demonstrated that the patient has a deficiency in coagulation factor V. Finally, genetic testing revealed that the factor V deficiency in this case is hereditary.
METHODS: The patient underwent a partial resection of the pancreatic head, and FFP was infused 1 hour before surgery. 600 mL of FFP was instilled 1 hour before the start of surgery along with 10 U of cryoprecipitate. and 600 ml of FFP were added during surgery. Postoperative treatment included intermittent FFP supplemental infusion in the first 5 days after surgery while monitoring the coagulation function.
RESULTS: The patient underwent a successful surgery without any abnormal bleeding or oozing during the procedure. The postoperative recovery was smooth, with no abnormal bleeding.
CONCLUSIONS: Patients with a deficiency of coagulation factor V are not contraindicated for surgery. Appropriate Fresh Frozen Plasma (FFP) replacement therapy can ensure the safe conduct of the surgical procedure. For patients with abnormal blood coagulation function, we recommend testing for coagulation factors and inhibitors, as well as performing genetic testing for abnormal coagulation factors, which can provide guidance on marriage and childbirth.

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To characterize pathoetiologic associations of heritable thrombophilia-hypofibrinolysis with idiopathic (primary) multifocal osteonecrosis (ON) (≥3 ON anatomic sites), we prospectively studied 28 women and 12 men with primary multifocal ON compared with 27 women and 24 men with primary nonmultifocal ON (<3 sites) and 110 healthy controls without ON. The 40 cases with primary multifocal ON differed from controls for 3 familial thrombophilias: Factor V Leiden heterozygosity (6 of 40 [15%] vs 2 of 109 [2%], P=.002), G20210A prothrombin gene heterozygosity (6 of 40 [15%] vs 3 of 110 [3%], P=.011), and high (>150%) Factor VIII (8 of 40 [20%] vs 7 of 103 [7%], P=.031). These case-control familial coagulation differences paralleled those in 51 concurrently evaluated cases with primary nonmulti-focal ON, 7 of 51 (14%) of whom had Factor V Leiden heterozygosity vs 2% of controls (P=.005) and 14 of 44 (32%) of whom had high Factor VIII vs 7 of 103 (7%) of controls (P=.0002). Recognition of familial thrombophilia as a common pathoetiology of primary multifocal ON provides an opportunity for early anticoagulation (before joint collapse), allowing both prophylaxis and therapy aimed at relieving pain and slowing or stopping progression of the disease to joint collapse. [Orthopedics. 2023;46(3):164-168.].

BACKGROUND: Our purpose was to describe a patient who developed combined central retinal vein occlusion (CRVO), cilioretinal artery occlusion, branch retinal artery occlusion (BRAO), and anterior ischaemic optic neuropathy (AION) followed by CRVO in the second eye because of the heterozygous factor V Leiden (FVL) mutation.
METHODS: A 39-year-old female with a history of recurrent pregnancy losses presented with acute blurred vision in the right eye (RE), with visual acuity limited to counting fingers. She was diagnosed with combined impending CRVO, cilioretinal artery occlusion, BRAO, and AION. The results of thrombophilia testing, not including the FVL mutation, were negative. Retinal atrophy with vascular attenuation and optic disc pallor developed after resolution of acute retinal findings. Nine months after initial presentation, the patient developed an impending CRVO in the left eye (LE), with a secondary progression to a complete CRVO causing a decrease in best corrected visual acuity (BCVA) to 20/40. The patient was determined to be heterozygous for the FVL mutation. She subsequently was treated with acenocoumarol. At the last follow-up visit, the BCVA was 20/400 in the RE and 20/20 in the LE, and there was a complete resolution of the acute CRVO findings in the LE.
CONCLUSIONS: Our case shows that the heterozygous FVL mutation may manifest with combined retinal vascular occlusion involving multiple sites in both eyes. Early recognition of such an inherited thrombophilic disorder is important because it implies the need for long-term anticoagulative therapy to reduce the patient\'s risk of recurrent, sight-threatening and life-threatening thrombotic events.

Acquired factor V inhibitor represents a rare condition, described only in case reports. The use of activated bypassing agents in bleeding control could be of aid and improve the survival in symptomatic patients with acquired factor V inhibitor.

Development of acquired factor V (FV) inhibitor is a rare coagulation disorder. Production of heteroantibodies against bovine FV, a contaminant in fibrin tissue adhesives, is a common cause of this condition in the field of surgery. The development of recombinant thrombin eliminated contamination of bovine FV, and infrequent use of bovine thrombin has decreased the risk of FV inhibitor development. Here, we report the case of a 43-year-old man who had marked prolongation of prothrombin time and activated partial thromboplastin time after surgery. Mixing coagulation studies with normal plasma and patient\'s plasma suggested the presence of an inhibitor. Clotting factor assays revealed that FV activity decreased to <1% with positive FV inhibitor titer (9.2 Bethesda units). The diagnosis of the FV inhibitor was confirmed. Overt bleeding was not observed during the course of hospitalization. His coagulation abnormalities rapidly normalized without any medical intervention. A careful review of his medical records revealed that no tissue adhesives were used in the patient, and the FV inhibitor would likely be autoantibodies. Antibiotic use during the perioperative period or the surgical procedure itself may trigger the occurrence of FV inhibitors. This case highlights that FV inhibitor may develop after the surgical procedure even without a history of the use of fibrin tissue adhesives. Surgeons and hematologists should be aware that this rare but potentially life-threatening condition may occur after the surgical procedure.

Hypercoagulable disorders can compromise success of free flap reconstruction. Factor V Leiden is one such disorder for which only one previously reported case of successful free tissue transfer in the head and neck has been described. We report a 70-year-old woman with factor V Leiden treated for stage IVA squamous cell carcinoma of the mandible with a composite resection and reconstruction with an osteocutaneous scapular free tissue transfer. The free tissue transfer occurred without complications, in the setting of intraoperative heparin, postoperative aspirin, and enoxaparin. The free tissue transfer continues to be viable at her most recent follow-up appointment. The hypercoagulable patient represents a diverse presentation of increased coagulation risk in the perioperative period. Considering a patient\'s history and understanding available treatment adjuncts can factor heavily in a patient with factor V Leiden successfully undergoing free tissue transfer for head and neck defects.

Low frequency of rare diseases origins from missed diagnosis addressing to poor prognosis. Acquired factor V inhibitor is a very low frequent bleeding condition (prevalence: 0.09/100,000,000-0.29/1,000,000 per year). Antibiotics, surgery, bacterial infections, malignancies, and autoimmune diseases are predisposing factors; however, no predisposing factor was found often. Authors reported a case of bleeding originating from an acquired factor V deficiency because they wish to draw attention to unfrequented or rare clinical situations rarely diagnosed in internal medicine unit.

A 38-year-old woman presented with previously undiagnosed factor V Leiden (FVL), who suffered a complete superficial femoral arterial thrombosis after tourniquet use during the surgical repair of one of her bilateral tibial plafond fractures. This patient\'s injury eventually resulted in a below-knee amputation.
We recommend expanding hypercoagulable screening on patients with risk factors based on a detailed history and physical examination. We also recommend limiting or negating tourniquet use in patients with FVL or other hypercoagulable disorders.