DOI: 10.21276/sasjm.2018.4.12.4

Pages: 218-221

The combined deficiency of factor V and factor VIII (F5F8D) has been described since 1954 as a rare congenital disorder, responsible of variable intensity hemorrhagic syndromes oftenly moderate. It is an autosomal recessive bleeding caused by mutations in genes encoding two proteins LMAN1 and MCFD2, involved in the passage of FV and FVIII between the endoplasmic reticulum and the Golgi apparatus before their secretion. Our work’s aims are to make known this rarely diagnosed pathology, by providing the recent data from the literature and to sensitize the practitioners to seek the presence of a F5F8D in front of a simultaneous prolongation of the activated partial thromboplastin time (APTT) and the prothrombin time (PT) Our patients have moderate hemorrhagic syndrome dominated by epistaxis, gingivorrhagia, bleeding after dental extraction, surgery or injury, and menorrhagia. The results revealed prolonged activated partial thromboplastin time and prothrombin time. Plasma levels of FV and FVIII were between 11% and 18%, the other factors were normal. The F5F8D diagnosis was retained after several checks. The discovery of these 4 cases prompted us to extend the investigation toward the rest of the siblings and the offspring but the results were normal