Article Abstract

Rare congenital bleeding disorders

Authors: Massimo Franchini, Giuseppe Marano, Simonetta Pupella, Stefania Vaglio, Francesca Masiello, Eva Veropalumbo, Vanessa Piccinini, Ilaria Pati, Liviana Catalano, Giancarlo Maria Liumbruno

Abstract

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.