Despite their diversity and large number, rare diseases share several diagnostic and therapeutic critical issues related to the resulting disability, causing significant repercussions also on the family and on society in general. “In this context, physical and rehabilitation medicine represents a fundamental support in the treatment process. The physiatrist collaborates with other specialists to outline a precise picture of the rare disease and its functional implications. He then specifically deals with setting up a rehabilitation project Individual which includes a wide range of therapeutic interventions to improve the patient's functionality and autonomy, improving their quality of life, thanks to a multidisciplinary and multi-professional rehabilitation team”. Andrea Bernetti, vice president of the Italian Society of Physical and Rehabilitative Medicine (Simfer) explains this to Adnkronos Salute on the occasion of World Rare Disease Day which will be celebrated tomorrow.
On the occasion of the Day, Simfer “expresses its closeness to all people with rare diseases, to families, to caregivers and is committed through its doctors to providing assistance in identifying the appropriate rehabilitation treatment path – recalls Giovanna Beretta, president Simfer – Addressing the challenges related to rare diseases requires a collective commitment. Scientific research, the implementation of more efficient diagnostic systems, the development of new drugs and therapies, and social and psychological support for patients and their families are just a few of the aspects on which it is essential to focus to improve the quality of life of those living with these pathologies”.
The example of what physical and rehabilitation medicine can give is its contribution to haemophilia where it is able to produce “excellent results” in terms of reducing haemarthritis. Hemophilia “is a rare, congenital and hereditary pathology, which predominantly affects the male sex, with a deficiency in the production of FVIII (Haemophilia A) and FIX (Haemophilia B) associated with the X chromosome of which men have only one copy ( XY). Women are generally healthy carriers of the genetic defect as they have a double case every 30,000-50,000 male births. Subjects who are affected are predisposed to spontaneous hemorrhages or in the event of minor traumas which affect all areas, but which manifest themselves mainly in the musculoskeletal system”, underlines Antonio Frizziero, associate professor of physical and rehabilitation medicine at UniMI (Milan).
“Hemarthrosis, i.e. bleeding within the joints, mainly affecting the ankle, elbow and knee, produces a synovial inflammatory process which, over time, causes permanent damage to the cartilage, bone, synovial membrane and muscle hypotonotrophy with consequent pain and joint stiffness, even at a young age, with serious joint deformities and significant movement limitations leading to ankylosis (joint block)”, underlines Frizziero.
“The last few decades have seen enormous advances made in the management and treatment of haemophilia A and B and other congenital haemorrhagic diseases (Congenital Hemorrhagic Diseases). These excellent results are the result of a multidisciplinary approach in patient management and the ever-increasing spread of prophylaxis as the 'gold standard' of combined pharmacological and functional therapy in any period of life – recurrence – The administration of FVIII or FIX concentrates, respectively in haemophiliacs A and B, also in prophylactic terms has opened up in recent years a new perspective of life for patients, allowing them to reduce hemorrhagic episodes and damage due to arthropathy and muscular localizations, containing disability related to movement restriction, improving their quality of life and participation in social life. This – he continues – has led to a new way of dealing with this pathology from a rehabilitative point of view, making interventions on musculoskeletal tissues possible that were once unthinkable”.
“It has been observed that a multidisciplinary approach to the haemophilic patient produces excellent results in terms of reduction of haemarthrosis, maintenance of joint well-being and improvement of the quality of life – highlights Frizziero – The specialist in Physical and Rehabilitation Medicine, always together with the haematologist, plays a crucial role in the management of the haemophilic patient by monitoring and accompanying him during the different phases of life, and providing, together with the correct pharmacological administration by the haematologist, differentiated rehabilitation projects which range from simple advice for a motor activity which does not impact on the joints, until the safe resumption of sporting activity, using all the possible tools in his hands such as the prescription of aids and orthoses, ultrasound monitoring of joint well-being, the execution of infiltrative therapies, the prescription of dedicated rehabilitation programs with technologically advanced instruments advanced and making use of the professionalism of competent physiotherapists in the sector”.
#Rare #diseases #physical #rehabilitation #medicine #improve #quality #life