2023-10-18 16:32:00
It is one of the most widespread rare pathologies, but myasthenia gravis (or gravis) is still little known. In fact, several years pass between the onset of symptoms and diagnosis. This causes considerable anxiety and frustration in 8 out of 10 patients. And even after the disease has been treated, the difficulty in accessing specialist care negatively influences the patients’ experience. The management of myasthenia gravis, in fact, requires a multidisciplinary approach in highly specialized centres, but in Italy around 13 thousand patients – of the estimated 15 thousand – do not refer to centers expert in neuromuscular diseases. This is the picture described by the experts present today in Milan in a meeting with the press promoted by Argenx, a company involved in the treatment of serious autoimmune diseases.
Myasthenia gravis is a rare and chronic autoimmune neuromuscular disease – explains a note – in which autoantibodies attack acetylcholine receptors, interrupting communication between nerves and muscles and causing episodes of extreme weakness. It appears suddenly, at any age, although more frequently in young women between 20 and 40 years old, and in men around 65 years old. Symptoms vary in severity and location, but are common with debilitating and life-threatening muscle weakness. In Europe it is estimated to affect between 56 thousand and 100 thousand people. About 85% of people with myasthenia gravis progress to generalized myasthenia gravis, which can affect muscles throughout the body, within 24 months.
The delay in diagnosis is due to “the complexity and heterogeneity of its manifestations – states Rocco Liguori, full professor of neurology, University of Bologna and Director of the Uoc Neurological Clinic, Irccs, Institute of Neurological Sciences of Bologna – The first symptoms generally include weakening of the eye muscles, drooping eyelids, vision. In more serious cases there may be difficulty in the mobility of the upper and lower limbs, in speaking, in chewing and swallowing as well as a compromise in respiratory function. Spontaneous improvements and acute worsening alternate which can culminate in myasthenic crisis, a sudden and serious worsening of symptoms such as to constitute a medical emergency requiring hospitalization and immediate medical treatment”. The disease can have a significant impact on the quality of life. According to a recent investigation, 81% of patients have difficulty working, 78% in carrying out daily activities and 60% in meeting family needs. All this has a direct and indirect economic impact: people with myasthenia gravis use double the medical resources compared to the general population (hospitalizations, visits, emergency room visits), one in 3 patients needs a caregiver, 16.8 % are no longer able to work, 34.4% are forced to be frequently absent from work, 3 times more than the general population.
In addition to physical and psychological fatigue, “very often” those close to the patient “do not notice our disability and struggle to understand it – says Chiara Castellini, member, active member of the Italian Association of Myasthenia and Immunodegenerative Diseases (Aim) – Amici del Besta ODV – It is essential to be able to count on clear and accurate information, to be followed in specialized centers where you receive the most appropriate treatments, but also listening and assistance on all dimensions of daily life that are impacted by the disease; from the physical aspect to the emotional and relational sphere up to the most intimate dimension. Only in this way is it possible to accept the disease and continue to live a full and active life, albeit with limitations that can be faced and managed with the right treatments.”
Today, “thanks to the progress of scientific research – underlines Renato Mantegazza, director of the Neuroimmunology and Neuromuscular Diseases Department of the Irccs Carlo Besta Neurological Institute in Milan – in most cases myasthenia gravis can be controlled by appropriate pharmacological therapy. In recent times – he adds – the treatment is moving from a generic immunosuppressive therapy to a precision therapy. This is the case of efgartigimod alfa, an antibody fragment designed to bind to the neonatal Fc receptor (FcRn), which inhibits the action of the IgG immunoglobulins which are the basis of myasthenia gravis”. The drug has recently obtained reimbursement from the Italian Medicines Agency (Aifa) for the treatment, in addition to standard therapy, of adult patients with generalized myasthenia gravis who are positive for the anti-acetylcholine receptor (AChR) antibody, approximately 85% of these patients.
“Behind our approved treatment for myasthenia gravis – highlights Silvia Chiroli, Country Manager of Argenx in Italy – there is a history of study and basic research that dates back over 15 years. With the same spirit as then – he continues – we continue to invest in research to accelerate scientific progress in those areas where there are still unmet treatment needs”. In this regard, Argenx has launched the first international observational study, based on an app that allows people with myathenia gravis to participate in research through their mobile device. ‘MyRealWorldTM MG’ is a project created in close collaboration with patient associations and specialists from 10 countries and 2,500 patients, one third Italian. The information collected from this study – concludes the note – they are providing an in-depth vision of the complexity of the pathology and its impact on people’s lives within the framework of a rigorous study protocol.
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