Factor VII deficiency is rare, with an estimated prevalence rate of 1/1,000,000. It is transmitted as an autosomal recessive trait. It can cause simple nosebleeds up to cerebral hemorrhage. Our study aims to focus on the clinical features and the importance of screening in patients with this rare deficit. We report the cases of two brothers with this deficit. Child aged 8 years, born to non-consanguineous marriage who was the youngest of two children. He had a history of post-circumcision bleeding and was admitted to our Department for the treatment of recurrent nosebleeds occurred over the last 4 years. Screening tests of hemostasis showed low Prothrombin (PT), normal Activated thromboplastin time (ATT), while factor assay revealed factor VII deficiency with a rate of 26%. The patient underwent spaced fresh frozen plasma (FFP) transfusions due to nosebleeds and wounds. Family screening was not performed. The eldest brother, aged 11 years, presented with very abundant nosebleeds. Somatic examination was unremarkable. Given his history, the patient underwent factor VII assay revealing a rate of 55% and parent screening was scheduled. The diagnosis of congenital factor VII deficiency in a patient motivates family screening in order to perform screening tests in other carriers of factor VII deficiency. This would avoid severe manifestations, even fatal, considering that studies have not shown a correlation between factor VII rate and the severity of patient's status.
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http://dx.doi.org/10.11604/pamj.2018.31.156.6123 | DOI Listing |
Blood Coagul Fibrinolysis
December 2024
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFAnn Hematol
January 2025
Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Ratchathewi District, Bangkok, Thailand.
Bleeding assessment tools (BATs) are used by trained medical personnel for screening bleeding disorders on a one-to-one basis with patients; hence, they are time-consuming and limited in use for large-population screening. The aims of the study were to develop, validate, and demonstrate a Thai BAT mobile application (mBAT) for self-screening of bleeding disorders. mBAT was developed and validated using the paper-based Thai version of pediatric bleeding questionnaire (TPBQ).
View Article and Find Full Text PDFJ Crohns Colitis
January 2025
Service de Chirurgie Digestive, Hôpital Bicêtre, APHP, Faculté de médecine Paris-Saclay, 94275 Le Kremlin-Bicêtre, France.
Background And Aims: Postoperative recurrence requiring medical treatment intensification or redo-surgery is common after ileocolic resection (ICR) for Crohn's disease (CD). This study aimed to identify a subgroup of CD patients for whom ICR could achieve durable remission.
Methods: This retrospective follow-up study analyzed 592 CD patients who underwent ICR (2013-2015) in a nationwide prospective cohort.
Nutrients
December 2024
Department of Food & Nutrition & Research Institute of Obesity Sciences, Sungshin Women's University, Dobongro-76gagil-55, Kangbuk-ku, Seoul 01133, Republic of Korea.
Unlabelled: This study investigated how the gene variation related to RMR alteration affects risk factors of obese environments in children with obesity aged 8-9.
Methods: Over a three-year follow-up period, 63.3% of original students participated.
Life (Basel)
November 2024
Onco-Hematology, Cell and Gene Therapy and Bone Marrow Transplant Clinic Area, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited factor VII deficiency is the most common rare bleeding disorder, affecting about 1/500,000 individuals without gender predilection. Most of the patients with FVII 20-50% are asymptomatic, but post-traumatic or post-surgical bleeding may often occur since there is not an exact correlation between FVII plasma levels and the bleeding phenotype. We enrolled 19 children and adolescents with FVII levels of 20-35% and 33 controls.
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