TY - JOUR AU - Franchini, Massimo AU - Marano, Giuseppe AU - Pupella, Simonetta AU - Vaglio, Stefania AU - Masiello, Francesca AU - Veropalumbo, Eva AU - Piccinini, Vanessa AU - Pati, Ilaria AU - Catalano, Liviana AU - Liumbruno, Giancarlo Maria PY - 2018 TI - Rare congenital bleeding disorders JF - Annals of Translational Medicine; Vol 6, No 17 (September 14, 2018): Annals of Translational Medicine (Focus on “Rare and orphan disorders: an emerging challenge?”) Y2 - 2018 KW - N2 - The rare congenital bleeding disorders are a heterogeneous group of diseases which include deficiencies of fibrinogen, prothrombin and factors V, V + VIII, VII, X, XI and XIII. They are usually transmitted as autosomal recessive disorders, and the prevalence of the severe forms ranges from one case in 500,000 for factor VII up to one in 2,000,000 for factor XIII in the general population. Patients with rare congenital bleeding disorders may have a broad spectrum of clinical symptoms, ranging from mucocutaneous bleeding to life-threatening haemorrhages, such as those occurring in the central nervous system. The treatment of these disorders is based principally on the replacement of the deficient factor using, when available, specific plasma-derived or recombinant products. UR - https://atm.amegroups.org/article/view/21055