1 Ematologia, Università Sapienza, Roma, Italia.
2 Ematologia, Azienda Ospedaliera Universitaria Policlinico Umberto I, Roma, Italia.
3 Ematologia, Dipartimento Medicina Traslazionale e di Precisione, Università Sapienza Roma, Italia.
| This is an Open Access article distributed
under the terms of the Creative Commons Attribution License
(https://creativecommons.org/licenses/by-nc/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Haemophilia A is a rare acquired bleeding disorder caused by Factor
VIII autoantibodies, which neutralise FVIII activity. These inhibitors
differ from alloantibodies against FVIII, which can occur in congenital
Haemophilia A after repeated exposures to plasma-derived or recombinant
FVIII products. In most cases, the disease occurs suddenly in subjects
without a personal or familiar history of bleedings, with symptoms that
may be mild, moderate, or severe. However, only laboratory alterations
are present in ̴ 30% of patients. The incidence varies from
1 to 4 cases per million/year; more than 80% of patients are elderly,
males and females are similarly affected. There is a small peak of
incidence related to pregnancy in young women aged 20–40 years. The
disease may be underdiagnosed in the elderly. The diagnostic algorithm
is based on an isolated prolonged activated partial thromboplastin
time, normal thrombin time, absence of Lupus Anticoagulant, and a
mixing test that reveals the presence of an inhibitor: the finding of
reduced FVIII activity and the detection of neutralising autoantibodies
against FVIII lead to the diagnosis. The disease is idiopathic
in 44%-63% of cases, while in the other etiological factors
are present. Bleeding prevention and treatment are based on therapeutic
tools as by-passing agents, recombinant porcine FVIII concentrate or,
in a limited number of cases, FVIII concentrates and desmopressin. As
soon as the diagnosis has been made, immunosuppressive therapy must be
started to eradicate the inhibitor. Better knowledge of the disease,
optimal management of bleeding and eradication of the inhibitor have
significantly reduced morbidity and mortality in most patients.
Specific AHA Populations
Treatment and Prevention of Bleeding
|Table 1. Bleeding treatment or prevention.|
Inhibitor Eradication: Immunosuppressive Therapy (Ist)
|Table 2. Immunosuppressive treatment.|
Comments and conclusions