Hemophilia A and von Willebrand deficiency: therapeutic implications

Authors: Basso, M, Lazzareschi, I, Curatola, A, Di, Gennaro L, Buonsenso, D, Gatto, A, De, Candia E, and De, Cristofaro R.

Publication: Blood Coagulation and Fibrinolysis; April 2020

Affiliations: Servizio di Malattie Emorragiche e Trombotiche, Area di Ematologia; Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, UOC Pediatria, Fondazione Policlinico Universitario « A. Gemelli », IRCCS; Istituto di Pediatria, Universita Cattolica del Sacro Cuore; Dipartimento Scienze della Salute della Donna, del Bambino e di Sanita Pubblica, UOC Pediatria, Fondazione Policlinico Universitario « A. Gemelli », IRCCS; Servizio di Malattie Emorragiche e Trombotiche, Area di Ematologia

Abstract: Hemophilia A is an X-linked bleeding disorder caused by a deficiency of factor VIII. Depending on the factor VIII activity in patient’s plasma, we can have three different forms of hemophilia A: mild (5-40IU/dl), moderate (1-5IU/dl) and severe (<1IU/dl). The most common symptoms include recurrent bleeding episodes of soft tissues and joints. The treatment is based on the prophylactic use of clotting factor concentrates to prevent bleeding episodes. We describe three cases of patients with initially diagnosis of hemophilia A that show different clinical severity, undergoing prophylactic therapies with low benefit. In these patients, the dosage of von Willebrand antigen revealed either low level or absence of this factor, which in one case was caused by the occurrence of a type III form of von Willebrand disease.