Congenital Deficiency in Factor VII Revealed by Menorrhagia: Case Report

Main Article Content

Nadia Mebrouk
Abdelilah Radi
Mohamed Selouti
Amal Hassani
Abdelhakim Ourrai
Mohamed Kmari
Rachid Abilkassem
Aomar Agadr


Factor VII (FVII) deficiency is the most common among rare inherited autosomal recessive bleeding disorders. It is a multifaceted disease because of the lack of a direct correlation between plasma levels of coagulation FVII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition—even in homozygous subjects—to severe, life-threatening bleedings (e.g., central nervous system and gastrointestinal bleeding). Menorrhagia is a frequent type of bleeding in FVII deficiency, with a prevalence rate of two in three women aged 10 to 50 years and with a peak prevalence in teenagers. When menorrhagia is observed and once the gynecological causes are excluded, it is important to carry out a hemostasis assessment because, if an anomaly is found, specific treatment can be administered and preventive measures taken. Basic diagnostic work-up includes routine assays, prothrombin level, activated partial thromboplastin time and platelet count, followed by FVII coagulant activity measurement for isolated decreased prothrombin level. To confirm the diagnosis, FVII assay should be repeated at least once. Several treatment options are currently available for FVII deficiency: Recombinant activated Factor VII (rFVIIa), plasma-derived Factor VII, fresh frozen plasma and prothrombin complex concentrates. rFVIIa is the most used replacement therapy. Other medical therapies of menorrhagia includes hemostatic agents and hormonal treatments (combined oral contraceptives, levonorgestrel intrauterine devices), in combination or not with rFVIIa.

We report the case of a fourteen-and-a-half-year-old girl who presented menorrhagia of great abundance at the age of thirteen, the exploration of which revealed a congenital deficit in FVII.

Factor VII, congenital deficiency, menorrhagia, recombinant activated factor VII.

Article Details

How to Cite
Mebrouk, N., Radi, A., Selouti, M., Hassani, A., Ourrai, A., Kmari, M., Abilkassem, R., & Agadr, A. (2020). Congenital Deficiency in Factor VII Revealed by Menorrhagia: Case Report. Asian Journal of Pediatric Research, 4(1), 1-5.
Case Study


Imane Z, Mdaghri-Alaoui A, hamdani S, El Harim-Lamdouar L, Lamdouar-Bouazzaoui N. Déficit congenital en facteur VII: A propos d'une observation. Journal de Pédiatrie et de Puériculture. 2004;17(3): 139-142.

Giansily-Blaizot M, Verdier R, Biron-Adréani C, et al. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: Can biological tests predict the bleeding risk? Haematologica. 2004;89(6):704- 709.

Tripathi Preeti, et al. Factor VII deficiency–an enigma; clinicohematological profile in 12 cases. Hematology. 2019;24(1):97-102.

Cooper DN, Millar DS, Wacey A, Banner DW, Tuddenham EGD. Inherited factor VII deficiency: Molecular genetics and pathophysiology. Thromb Haemost. 1997;78:151-60.

Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F, Wulff K, Schved JF, Auerswald G, Ingerslev J, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb. Haemost. 2005;93: 481–487.

Rosen ED, Xu H, Liang Z, Martin JA, Suckow M, Castellino FJ. Generation of genetically-altered mice producing very low levels of coagulation factor VII. Thromb. Haemost. 2005;94:493–497.

Napolitano M, Dolce A, Celenza G, Grandone E, Perilli MG, Siragusa S, Carta G, Orecchioni A, Mariani G. Iron dependent erythropoiesis in women with excessive menstrual blood losses and women with normal menses. Ann. Hemat. 2014;93:557–563.

Napolitano M, Di Minno MND, Batorova A, Dolce A, Giansily-Blaizot M, Ingerslev J, Schved JF, Auerswald G, Kenet G, Karimi M, et al. Women with congenital factor VII deficiency: Clinical phenotype and treatment options from two international studies. Haemophilia. 2016;22:752–759.

Mariani Guglielmo, Francesco Bernardi. Factor VII deficiency. Seminars in Thrombosis and Hemostasis. © Thieme Medical Publishers. 2009;35(04).

Mariani G, Konkle BA, Ingerslev J. Congenital factor VII deficiency: Therapy with recombinant activated factor VII – A critical appraisal. Haemophilia. 2006;12: 19–27.

Napolitano Mariasanta, Sergio Siragusa, Guglielmo Mariani. Factor VII deficiency: Clinical phenotype, genotype and therapy. Journal of Clinical Medicine. 2017;6(4):38.

Rapaport SI, Rao LV. The tissue factor pathway: How it has become a “prima ballerina”. Thromb. Haemost. 1995;74:7–17.

Butenas S, van’t Veer C, Mann KG. “Normal” thrombin generation. Blood. 1999;94:2169–2178.

Benajiba Noufissa, et al. Déficit congénital en facteur VII de coagulation: A propos de deux cas familiaux. The Pan African Medical Journal. 2018;31.

Muriel Giansily, Jean-François Schved. Les déficits constitutionnels en facteur VII. Hématologie. Août. 2000;4(6):266–271.

Guillain MC. Déficits constitutionnels des facteurs II, V, VII ou X. Encycl Med Chir (Elsevier SAS Paris), Hématologie. 1988;1–7. 13021-C-10.

Bauer KA. Treatment of factor VII deficiency with recombinant factor VIIa. Haemostasis. 1996;2(Suppl):155–8.

Sfaihi Ben Mansour L, Thabet A, Aloulou H, Hachiche M. Défcit congenital en facteur VII de la coagulation, révélé par une hémorragie cérébrale. Archives de Pediatrie. 2009;16(7):1024–1027.

Boubker Benyahia, Rachid Bahiri, Houda Maaroufi, Najia Hajjaj Hassouni. Arthropathies au cours d'un déficit en facteur VII: A propos d'un cas. Revue du Rhumatisme. 2005;72(12):1350–1352.

Napolitano M, Dolce A, Batorova A. Replacement therapy in inherited factor VII deficiency: Occurrence of adverse events and relation with surgery. Haemophilia. 2015;21:e513–e517.

Boxus G, Slacmeulder M, Ninane J. Déficit héréditaire combine en facteurs Vii et X révélé par un allongement du temps de Quick. Archives de Pédiatrie. 1997;4(1): 44–47.

Boyer-Neumann C, Mercier FJ, Veyradier A. Facteur VII active recombinant (NovoSeven®): Indications et limites. Réanimation. 2006;15(7-8):576-583.

Morfini M, Batorova A, Mariani G, Auerswald G, Bernardi F, Di Minno G, Dolce A, Fede C, Giansily-Blaizot M, Ingerslev J, et al. Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect. Thromb. Haemost.; 2014.