Mortality and causes of death in Italian persons with haemophilia, 1990-2007.

Although a number of studies have analysed so far the causes of death and the life expectancy in haemophilic populations, no investigations have been conducted among Italian haemophilia centres. Thus, the aim of this study was to investigate mortality, causes of deaths, life expectancy and co-morbidities in Italian persons with haemophilia (PWH). Data pertaining to a total of 443 PWH who died between 1980 and 2007 were retrospectively collected in the 30 centres who are members of the Italian Association of Haemophilia Centres that chose to participate. The mortality rate ratio standardized to the male Italian population (SMR) was reduced during the periods 1990-1999 and 2000-2007 such that during the latter, death rate overlapped that of the general population (SMR 1990-1999: 1.98 95% CI 1.54-2.51; SMR 2000-2007: 1.08 95% CI 0.83-1.40). Similarly, life expectancy in the whole haemophilic population increased in the same period (71.2 years in 2000-2007 vs. 64.0 in 1990-1999), approaching that of the general male population. While human immunodeficiency virus infection was the main cause of death (45%), 13% of deaths were caused by hepatitis C-associated complications. The results of this retrospective study show that in Italian PWH improvements in the quality of treatment and global medical care provided by specialized haemophilia centres resulted in a significantly increased life expectancy.

Effects of secondary prophylaxis started in adolescent and adult haemophiliacs.

While primary prophylaxis is a well-established and recommended method of care delivery for children with severe haemophilia, fewer studies have documented the benefits of secondary prophylaxis started in adolescence or adulthood. To evaluate the role of secondary prophylaxis started in adolescent and adult severe haemophiliacs, a retrospective observational cohort study was conducted in 10 Italian Centres that investigated 84 haemophiliacs who had bled frequently and had thus switched from on-demand to prophylactic treatment during adolescence (n = 30) or adulthood (n = 54). The consumption of clotting factor concentrates, the orthopaedic and radiological scores, quality of life and disease-related morbidity were compared before and after starting secondary prophylaxis. Prophylaxis reduced the mean annual number of total and joint bleeds (35.8 vs. 4.2 and 32.4 vs. 3.3; P < 0.01) and of days lost from work/school (34.6 vs. 3.0, P < 0.01). A statistically significant reduction in the orthopaedic score was observed during prophylaxis in adolescents, but not in the whole cohort. Patients used more factor concentrates with corresponding higher costs on prophylaxis, but experienced a better quality of life. With respect to on-demand treatment, higher factor consumption and cost of secondary prophylaxis were balanced by marked clinical benefits and greater well-being in this cohort of adolescent/adult haemophiliacs.

[Prothrombotic gene mutations in women with recurrent abortions and intrauterine fetal death]. / Mutazioni protrombotiche in donne con aborto ricorrente e morte fetale intrauterina.

AIM: The factor V Leiden mutation (FVL) and the G20210 prothrombin gene mutation (FII G20210A) are well-established risk factors for venous thromboembolism. In the recent years many scientific reports have suggested that these defects are associated with an increased risk of intrauterine fetal death. The aim of our study was to investigate the prevalence of these molecular defects in subjects with history of unexplained pregnancy loss. METHODS: One-hundred and fifty women, 99 with history of unexplained recurrent pregnancy loss (between the 13th and the 20th week of gestation) and 51 with history of unexplained fetal death (pregnancy loss after the 20th week of gestation) were studied for hereditary thrombophilia. Physiologic coagulation inhibitors (antithrombin III, protein C, protein S) were in the normal range. RESULTS: The prevalence of FVL and FII G20210A mutations was compared in patients with recurrent pregnancy loss and in a control group of 115 healthy women, without history of pregnancy loss (6.1% and 8.1% for FVL and FII G20210A respectively vs 2.6% for both mutations in the control group, P=0.36 for FVL and P=0.13 for FII G20210A). FVL and FII G20210A mutations were significantly more prevalent in women with fetal death (19.6%, P=0.001 for both mutations). CONCLUSIONS: Our data suggest that the screening for the FVL and FII G20210A mutations is useful in the setting of unexplained early and late pregnancy loss. Further studies are necessary in order to clarify the real impact of prothrombotic molecular defects on the pregnancy outcome and then to evaluate the appropriate therapeutic approach.

Prognosis of chronic lymphocytic leukemia: analysis of one hundred cases.

One hundred patients with chronic lymphocytic leukemia (CLL) followed in our department between November 1969 and December 1982 were reviewed and classified according to the staging system proposed by the International Workshop on CLL (IWCLL). Analysis of actuarial survival curves revealed a significant chi-square value for heterogeneity and trend. In addition, thrombocytopenia and anemia appeared to be the most important risk factors. A large variability in the course of disease, not well explained by the staging system of the IWCLL, was found among the nonanemic and nonthrombopenic patients. Analysis of A and B stage patients according to absolute peripheral blood lymphocytosis (less or more than 50 X 10(9)/liter) showed two separate patterns of survival.

Chronic myelomonocytic leukemia: a test of a proposed staging system.

In an attempt to characterize the prognostic significance of the main clinical and hematological features of chronic myelomonocytic leukemia (CMML), 30 such patients were allocated the "modified Bournemouth score". The most significant separation of groups predictive of poorer survival was obtained by setting a cutoff at the median score value for the whole series (score,2). On this basis patients could be divided into two different groups whose survival probability as well as risk of acute transformation significantly differ each other (P less than 0.05). In our opinion, this score could be of interest in treatment planning of CMML patients when the possibility of conservative or aggressive approach in envisaged.