We report on a 10-year-old female diagnosed with severe congenital FV deficiency who developed anti-FV inhibitory antibody 3 weeks following dental procedure hemorrhage treated with FFP. The patient presented a large spontaneous gluteal hematoma. Despite multiple FFP transfusions, FV levels remained critically low, prompting suspicion of FV inhibitor development, confirmed by ELISA. Bleeding control was achieved with recombinant factor VIIa. An immune tolerance induction protocol was initiated, and administration of FFP was continued. Factor V inhibitors became undetectable after 1 year and the patient had a favorable clinical evolution without further bleeding episodes. This case reports the successful eradication of FV inhibitor using FFP exposure and immunosuppressive therapy.

This study aimed to elucidate the phenotype and genotype of a patient (9-year-old) with coagulation factor V (FV) deficiency to enhance our understanding of this specific disorder. FV activity and antigen level were evaluated using a clotting assay and ELISA, respectively. Variations in the F5 gene were identified through DNA sequencing. The effects of the identified mutations on protein functionality were investigated using four bioinformatics tools: Expasy-ProtScale, ClustalX-2.1-win, Swiss-PdbViewer, and PyMol. These tools were applied to analyze hydrophobic properties, sequence conservation, and structural alterations. The proband presented with a prolonged activated partial thromboplastin time (APTT) and a bleeding tendency. His FV activity was reduced to 22% (reference range: 50-150%). Molecular analysis of the F5 gene identified two heterozygous variants in exons: c.1177A > G (p.Lys393Glu) and c.6665A > G (p.Asp2222Gly). In silico analysis predicted the potential deleterious effects of these mutations on FV protein function and structure. This research identified two distinct variants in the F5 gene, including a novel variant (c.1177A > G/p.Lys393Glu). These findings elucidate the molecular mechanisms underlying the patient's FV deficiency and expand the mutational spectrum associated with this disorder.

Combined deficiency of factors V and VIII is a rare autosomal recessive disorder associated with an increased risk of bleeding. We present an unusual case of a 7-year-old Moroccan child with no history of consanguinity who was hospitalized owing to a hemorrhagic episode during circumcision. The 7-year-old patient, a Moroccan boy from North Africa, coming from a family of five siblings, was referred for an evaluation of prolonged activated partial thromboplastin time and prothrombin time. Coagulation factor assays revealed a combined deficiency of factors V and VIII, with normal levels of other coagulation factors. This anomaly was detected in the hematology laboratory, where hemostasis tests were performed via optical methods on the Acl Top 750 analyzer. A complete blood count was conducted on the Beckman Coulter DXH 900 analyzer. Hemostasis assessments revealed an elevated activated partial thromboplastin time at 73.2 s (normal range < 36), with a patient-to-control activated partial thromboplastin time ratio of 2.58 (normal ratio < 1.2), a low prothrombin time at 18.35 s (normal prothrombin time range: 11.4-13.5), and an international normalized ratio of 1.59 (normal range: 2-3.5). Specific coagulation factor assays demonstrated a combined deficiency of factors V and VIII at 12.4% (normal range: 55-150) and 9.1% (normal range: 50-145), respectively, whereas other coagulation factor levels remained within the normal range, including the antigenic activity of von Willebrand at 71.7% (normal range: 50-150). The complete blood count showed no abnormalities, except for a small thrombocytosis. The child was managed in the pediatric hematology department, and a family investigation among the remaining siblings was initiated to search for similar cases. Our study highlights a rare and often underdiagnosed genetic disorder that is often confused with a diagnosis of minor hemophilia A or congenital factor V deficiency. Differential diagnosis is crucial, particularly for von Willebrand disease. Combined deficiency of factors V and VIII should be suspected in patients with a suggestive clinical and laboratory profile, including prolonged prothrombin time and activated partial thromboplastin time along with a deficiency in coagulation factor V. Therefore, measuring factor VIII levels is highly recommended.

Congenital factor V deficiency is classified as a rare bleeding disorder that is expressed in an autosomal recessive manner and generally occurs in 1 in a million people. This disorder is accompanied by a variety of clinical manifestations, which can easily lead to misdiagnosis. This is the first report to identify the factor V gene variant c.2439delC (p.I814Lfs*23) in exon 13. A 13-year-old boy was admitted with a suspected left iliac fossa abscess. He had been previously diagnosed with and underwent management for a left iliac fossa abscess at a local hospital. The patient was treated with antibiotics and underwent surgical excision; however, his left iliac fossa mass reappeared. Platelet count and function, prothrombin time, and activated partial thromboplastin time were all normal. The patient was considered to have congenital factor V deficiency following the measurement of coagulation factor activity, and the diagnosis was confirmed by genetic testing. The mass was diagnosed as an abscess and the patient was treated with antibiotics at the local hospital. Surgical resection was performed, after which the mass was identified as a hematoma. The patient was then transferred to our hospital for treatment with fresh frozen plasma (FFP) infusion. The left iliac fossa mass stopped growing and the coagulation function exhibited a significant improvement. At discharge, the patient was recommended to seek medical help before any surgical intervention or following trauma, and when a deep hemorrhage is identified, the patient should undergo timely infusion with FFP. This case report presents a rare occurrence of congenital factor V deficiency resulting in a left iliac fossa hematoma mistaken for an abscess, which resulted in unnecessary antibiotic therapy and surgery. This case emphasizes that coagulation factor deficiency should be highly suspected for joint mass combined with coagulation dysfunction.

Congenital coagulation factor V deficiency (FVD) is a rare, autosomal recessive bleeding disorder. We characterized the clinical presentations, laboratory features, and genetic alterations of Taiwanese patients with FVD. From 1983 to 2010, five women, one man, and one boy diagnosed with FVD were enrolled in this study. The factor V coagulant activity was determined using a one-stage prothrombin time-based test. The factor V antigen level was measured in an ELISA. Sanger sequencing was performed for genetic analyses of F5 , the gene responsible for the disease. One novel and de novo F5 genetic variant, p.Tyr1813 ∗ , was identified. Based on the presence of a premature termination codon with a resultant truncated factor V-protein lacking an intact light chain fragment, the variant is pathogenic. In addition, we identified seven variants previously found to cause FVD. Among them, p.Gly420Cys and p.Asp96His were repeatedly detected in five and four patients, respectively. Both variants are found to be specific to the East Asian populations. Various FVD-associated bleeding manifestations were observed, predominantly mucocutaneous bleeding and hypermenorrhea. All patients exhibited very low factor V coagulant activity (<1-2.5 IU/dl, reference range: 60-133 IU/dl). The factor V antigen level was less than 2% in six patients (reference range: 75-157%). The novel F5 genetic variant p.Tyr1813 ∗ and two distinct, East Asians-specific, recurrent variants p.Gly420Cys and p.Asp96His were identified among seven index patients with FVD in Taiwan. Our clinical and laboratory findings support the reported features of FVD.