Italian Registry of Congenital Bleeding Disorders

Abstract

In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people identified with bleeding disorders has increased over the years, with the number rising from approx. 7000 in 2000 to over 11,000 in 2015. The NRCC includes 4020 patients with hemophilia A and 859 patients with hemophilia B. The prevalence of the rare type 3 vWD is 0.20/100,000 inhabitants. Less common congenital bleeding disorders include the following deficiencies: Factor I (fibrinogen), Factor II (prothrombin), Factor V, Factor VII, Factor X, Factor XI and Factor XIII, which affect 1953 patients. Hepatitis C Virus (HCV) infection affects 1561 patients, more than 200 of whom have two infections (HCV + HIV). Estimated hemophilia-related drug consumption in 2015 was approx. 550 million IU of FVIII for hemophilia A patients and approx. 70 million IU of FIX for hemophilia B patients. The NRCC, with its bleeding disorder data set, is a tool that can provide answers to fundamental questions in public health, monitoring care provision and drug treatment, as well as facilitating clinical and epidemiological research.

The socioeconomic burden of patients affected by hemophilia with inhibitors

“…The high and different cost of ITI, prophylaxis, and on demand can influence the treatment distribution among patients; with lower income countries that report a higher use of cheapest regimen . In a high income country, as Italy, the number of recorded HA patients with FVIII inhibitors treated with bypassing agents or ITI in Italy was about 110 in 2015 . However, this number is underestimated due to the missing data of few hemophilic centers that lead to a more realistic number of 135 patients with high level in treatment (Table ) .…”

“…In Figure , the distribution of treatment strategies stratified by age is reported. On demand, regimens with rFVIIa and aPCC were used in 51% and 27% of patients, respectively; while prophylaxis regimens were provided in 17% of patients with aPCC and 5% with rFVIIa used off‐label . However, a recent survey carried out by the Italian Association of Hemophilia Centres reported 61% of inhibitor patients treated on demand and 39% with prophylaxis …”

“…Further, the number of patients affected by HA recorded in the Italian NRCC was about 3.5 thousand in 2011 and over 4 thousand in 2015, this trend is due to an increase in the number of patients who are registered. Similarly, the number of patients with HB was 728 in 2011 and 859 in 2015 …”

“…In the literature, inhibitor development is reported in 25%‐30% of Previously Unexposed Patients (PUPs) with severe HA and up to 10% of those with severe HB . The Italian NRCC reported 4020 subjects with HA and 380 patients with inhibitor history in 2015 …”

Budget impact analysis of the use of extended half-life recombinant factor VIII (efmoroctocog alfa) for the treatment of congenital haemophilia a: the Italian National Health System perspective

“…The impact of the disease is also demonstrated to affect both patients and caregivers and the annual social costs of the disease in Italy is estimated to be about 118,000 Euro per person in 2012 [4]. Although haemophilia is not a common disease, the number of people identified with bleeding disorders has increased over the years [35] and this life-long condition place a considerable burden on patients, healthcare systems and society.…”