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<p>Factor VII (FVII) Padua is a rare inherited disorder caused by a missense variant in the <i>F7</i> gene (Arg364Gln), resulting in variable FVII activity depending on the thromboplastin source used in assays. Although often linked to a hypercoagulable state, critical gaps remain in understanding its diagnosis, clinical manifestations, and geographic distribution.&#xa0;Following PRISMA guidelines, a systematic search of PubMed, Scopus, and Web of Science was conducted through February 2026 to identify studies reporting FVII Padua. Data on demographics, laboratory findings, and bleeding or thrombotic events were extracted from eligible publications.&#xa0;Thirty-six studies comprising 75 patients were identified. Most cases originated from Italy (22.6%), Iran (20%), the USA (17.3%), France (12%), and Brazil (9.3%). Ages ranged from 5 to 79 years. Sex information was available for 50 patients, of whom 27 (54%) were female and 23 (46%) were male. Prolonged prothrombin time and markedly reduced FVII activity using rabbit-brain thromboplastins were key diagnostic features, while human or recombinant thromboplastins showed milder reductions. Nearly half of the patients (<i>n</i> = 28; 49%) were asymptomatic; however, some experienced severe bleeding, including postpartum hemorrhage (<i>n</i> = 1; 1.7%) and gastrointestinal bleeding (GIB) (<i>n</i> = 3; ~5%). Thrombotic events were reported in six patients out of 13 (46%), including deep vein thrombosis (DVT) in two patients (33.3%) and pulmonary embolism (PE) in one patient (16.6%).&#xa0;This study demonstrates the global distribution and clinical heterogeneity of FVII Padua, emphasizing the need for thromboplastin-specific diagnostic evaluation and individualized management. Further research is essential to address existing diagnostic and therapeutic gaps.</p>

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Factor VII Padua: a systematic review of reported cases, diagnosis, clinical manifestations, and management strategies

  • 期刊论文

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  • 发表日期：

    2026年5月12日

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  • Seyed Mehrab Safdari,
  • Mahmood Shams,
  • Samin Alavi,
  • Akbar Dorgalaleh

摘要

Factor VII (FVII) Padua is a rare inherited disorder caused by a missense variant in the F7 gene (Arg364Gln), resulting in variable FVII activity depending on the thromboplastin source used in assays. Although often linked to a hypercoagulable state, critical gaps remain in understanding its diagnosis, clinical manifestations, and geographic distribution. Following PRISMA guidelines, a systematic search of PubMed, Scopus, and Web of Science was conducted through February 2026 to identify studies reporting FVII Padua. Data on demographics, laboratory findings, and bleeding or thrombotic events were extracted from eligible publications. Thirty-six studies comprising 75 patients were identified. Most cases originated from Italy (22.6%), Iran (20%), the USA (17.3%), France (12%), and Brazil (9.3%). Ages ranged from 5 to 79 years. Sex information was available for 50 patients, of whom 27 (54%) were female and 23 (46%) were male. Prolonged prothrombin time and markedly reduced FVII activity using rabbit-brain thromboplastins were key diagnostic features, while human or recombinant thromboplastins showed milder reductions. Nearly half of the patients (n = 28; 49%) were asymptomatic; however, some experienced severe bleeding, including postpartum hemorrhage (n = 1; 1.7%) and gastrointestinal bleeding (GIB) (n = 3; ~5%). Thrombotic events were reported in six patients out of 13 (46%), including deep vein thrombosis (DVT) in two patients (33.3%) and pulmonary embolism (PE) in one patient (16.6%). This study demonstrates the global distribution and clinical heterogeneity of FVII Padua, emphasizing the need for thromboplastin-specific diagnostic evaluation and individualized management. Further research is essential to address existing diagnostic and therapeutic gaps.