WITH the pandemic, they have not encountered particular problems in the supply of drugs but have reduced physical activity which is instead essential to prevent joint damage and micro-bleeding which, over time, lead to loss of functionality. We are talking about the people with haemophilia, a rare genetic disease characterized by deficiency, at various levels of severity, of a clotting factor.
Over 10 thousand people in our country live with haemophilia and other congenital bleeding diseases, which affect one in 30,000 male children. XII World Hemophilia Day, which will be celebrated on Saturday 17 April, the Federation of Hemophilia Associations (FedEmo) yesterday organized an event accessible via streaming for the public here in which possible strategies for improving care and out-of-hospital pathways were analyzed, a path accelerated by Covid.
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“Starting from the uniqueness of the haemophilic pathology and from the personalization of the therapies intended for it, we conducted a survey among our patients and the indications collected through the questionnaires seem to represent the most suitable solution to respond to the needs that have emerged”, he explained Cristina Cassone, President FedEmo, by presenting a survey, conducted on a sample of approx 70 people. The questionnaire, administered through social channels, shows that more than half of the patients interviewed (57%) no longer carried out any physical activity during the emergency; 63% see the pandemic as an opportunity to concretely reflect on the need to increase home treatments and 75% ask to extend the existing local services to haemophilic patients as well. Among the services they would like to see provided are: physiotherapy (30 percent); blood test and home infusion (14 percent); drug distribution (11 per cent); pediatric hemophilia surgeries (6 percent).
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According to another important survey conducted between November 2019 and June 2020 by the University of Milan Bicocca out of 144 adult patients and 94 caregivers it emerges that 15% of the interviewees already found it difficult to access Hemophilia Center before the pandemic and of these about 25% mainly because it is not easily reachable. For 20%, the Center only provides visits for haemophilia and no other services. Finally, on the quality of life, over 50% of adults reported having difficulty walking and 35% of having experienced or felt pain. 16% had to go to specialists outside the Center and over 60% haemophilia had a negative impact on their work.
According to the latest data released byHigher Institute of Health in 2018 in Italy there were: 10,554 patients with congenital hemorrhagic diseases present in the National Register of congenital coagulopathies: 4,109 with haemophilia A, 882 from haemophilia B, 3,245 from von Willebrand’s disease and 2,318 from defects in other coagulation factors.
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The appeal of FedEmo institutions are encouraged to de-medicalise assistance, making use of innovative health tools and technologies, such as telemedicine, “We ask the competent institutions to move in this direction. Such an approach could also facilitate the exit from the current phase of stagnation in which the application of the Agreement on Congenital Hemorrhagic Diseases (ECM) is found and would guarantee greater efficiency and autonomy in therapies, while using resources already available and used today for other chronic diseases. Finally, representing the more than 10,000 Italian patients, we would like to draw the attention of AIFA – concluded the president FedEmo – on the potentially serious risk situation that has arisen for the protocols of the tenders for the purchase of drugs adopted by some of the Regions of our country, hoping that the principle of therapeutic non-equivalence between drugs in haemophilia is soon sanctioned once for all.”
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That the sedentiarity has become the problem of people with haemophilia during the pandemic also confirmed by the data of a survey carried out by Sobi in collaboration with Medi-Pragma between October and November 2020 on a sample of 258 patients, born with the aim of knowing the spread, the type and frequency of physical activity by people with haemophilia A in different age groups (0-18 years 19-40 years 41-60 years> 60 years), and to understand if and how this has changed due to Covid -19. Data shows that 72% of hemophiliacs under 18, 48% of those between 19 and 40 and 63% of those over 41 have stopped exercising. Furthermore, the survey shows that only 57% underwent joint screening in the nine months prior to the interview. And, even more worryingly, 43% of respondents have never done so to date.
Forgetting that periodic joint screening and physical activity are fundamental elements for preventing joint damage and micro-bleeding, not always evident, which over time lead to loss of functionality. Without practicing sports anymore, muscles and joints are less stimulated. This increases the risk of joint bleeding and brings the ‘ghost’ of being overweight closer, one of the most dangerous factors in the premature aggravation of joint pathologies. The most frequent consequence of this pathology is in fact the risk of recurrent hemorrhage and micro-bleeding that mainly affect the joints, causing chronic arthropathy and, over time, a possible condition of disability, if the disease is not kept under control.
This is why the platform was born We articulate www.articoliamo.com initiative promoted by Sobi with the patronage of FedEmo for joint well-being, which also organizes periodic online meetings throughout Italy with local specialists.
The next steps on the calendar I’m Palermo April 17th at 11.00 am; Scorrano / Bari 27 April at 17.00; Tuscany 28 April at 5.30 pm.
The first appointment of the awareness campaign on rare diseases will also be dedicated to haemophilia #MakeYourChoice “Small choices that change the course of things”, promoted by the federation of associations of patients with rare diseases We unite FIMR Onlus and Uno Sguardo Raro with the support of Sobi who, through the site, tells the point of view of patients, their stories, testimonies, in particular the importance of choices in life, inviting all of us to put ourselves in their shoes.
Rare genetic diseases there are also lysosomal storage diseases, about fifty diseases including Gaucher disease, Fabry disease and Hunter syndrome, caused by a defect or absence of one of the enzymes contained in lysosomes, vesicles present inside the cell and considered as “recycling centers” of waste substances. They are serious progressive diseases, very difficult to diagnose.
To identify them promptly, it would be appropriate to extend neonatal genetic screening, as he explains Maria Alice Donati, SOC Director of Hereditary Metabolic Diseases, Clinical Center for Newborn Screening, AOU Meyer, Florence: “The data derived from clinical diagnoses for Gaucher speak of 1 case in 60,000 births / year, for Fabry of 1 case in 40,000 and for Hunter of 1 case in 100,000 , however, the numbers derived from newborn screening diagnoses are much higher. The common feature of these pathologies is the mechanism of progressive accumulation of rejection macromolecules in cellular lysosomes and the consequent progressiveness of the course. The symptoms at the beginning are very nuanced, so much so that it can be confused with more common diseases, up to becoming severe with the involvement of numerous organs and systems. It can take many years before the symptoms become specific, a peculiarity of the symptomatology is the great heterogeneity. In any case, there is a point of no return in the clinical history, which is why it is essential to expand neonatal screening which is currently carried out in Italy as part of pilot projects: for Gaucher in the Triveneto, for Fabry it is active in Veneto while it is not scientifically supported for Hunter “.
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