It is a fluctuating disease, so to speak. Its symptoms, and consequently also its severity, can vary over months, weeks, sometimes even days. It feels good in the morning, bad in the evening or vice versa. And this, for the people who suffer from it, is a kind of damnation since doctors who don’t know it well risk not taking their stories seriously.
Let’s talk about the miastenia gravea rare disease – according to the latest data in Italy affects about 17 thousand individuals – on which we will try to clarify on the occasion of the “Myasthenia Day: patient management, from diagnosis to treatment”, the event organized on April 27 with the ” goal of creating a common management protocol with the involvement of specialists, making the recognition of the pathology more timely, facilitating contacts between the territory and specialized centers and above all identifying the unexpressed needs of patients during the diagnosis and treatment process.
How it manifests itself
“Myasthenia – he explains Renato MantegazzaDirector of the Neuromuscular Diseases and Neuroimmunology Operating Unit of the IRCCS Foundation Neurological Institute Carlo Besta of Milan and one of the coordinators of the event – it is a disease of the neuromuscular junction, that is the point of contact between nerve and muscle, where the impulse is transmitted so that the muscle contracts and gives strength and resistance. “Depending on the muscle groups affected, there is a consequent symptomatology: if it is about those that control the eye and eyelid movements, for example, there may be problems with vision ( such as double vision), chewing or facial expression in general.
“Symptoms that are not serious in themselves but that have a strong impact on the quality of life of the affected person”, adds Mantegazza. In more serious cases, when the diaphragm muscle that controls breathing is affected, the risk is that of respiratory failure which can also lead to suffocation.
An insidious disease
In this sense, myasthenia gravis is an insidious disease: the clinical manifestations can be very different. Those affected risk not understanding their symptoms, and begin to turn to various specialists (the ophthalmologist, the otolaryngologist, the psychiatrist, the physiatrist) with the risk of delaying the correct diagnosis and entering the correct therapeutic procedure .
The progression, then, is a crucial point: “The typical feature of myasthenia is that of varying in severity and symptoms even in the same patient – continues the neurologist – and doctors who are not used to this trend may not give credit to the sick, interpreting their difficulties as psychic discomfort and administering drugs that are also harmful for neuromuscular transmission “. For this too, therefore, awareness is needed.
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What are the causes
But what are the causes of this disease? Technically, Mantegazza continues, myasthenia is an autoimmune disease: circulating antibodies interfere with neuromuscular transmission proteins, blocking the post-synaptic acetylcholine receptors, and thus reducing the validity of the contraction. However, genetic forms are also rarely observed.
At what age does it manifest itself
Its onset seems to have changed over the years: once it was prevalent in young women, the expert recalls, now from what is found in clinics it seems to be widespread also in adult males after 60-65 years. The reason is obvious: an aging population, which therefore has a greater probability of meeting it during its life, but also a better diagnostic capacity, which tends to finally give a name to symptoms, even mild ones, which up to not so long ago they were traced back to something else.
What are the therapies
There are therapies, and they control the disease with a good degree of effectiveness: they are cortisone or immunosuppressants in chronic use. Another way is that of thymectomy, the surgical removal of the thymus, the organ from which our immunological repertoire originates and whose anomalies trigger the autoimmune response.
But the price of this therapeutic arsenal on the patient in terms of side effects is often very high. So patients are waiting for news.
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by Francesca Paterni
Two innovative drugs
Already at the end of 2017 the Food and Drug Administration and EMA, after an international study called REGAIN, has finally approved the first of a class of innovative drugs (which, however, does not yet have the reimbursement of the NHS), a biological with a different mechanism of action that blocks complement activation. No longer, explains Mantegazza, the induction of generalized immunosuppression, but a targeted inhibition of the activities of antibodies, in particular of type G immunoglobulins, which interfere with the neuromuscular junction.
Furthermore, according to the Horizon Scanning Report of the Italian Medicines Agency, a new molecule is part of the medicines containing new orphan active substances under evaluation and with an EMA opinion expected in 2022. The ADAPT study that evaluated the efficacy and safety of the drug biology was conducted for 26 weeks in 167 patients randomly assigned to drug or placebo treatment. The results show that significantly more patients treated improve the ability to carry out activities of daily living compared to placebo (68% vs 30%).
“This is a step in the direction of precision medicine, which could completely change the therapeutic approach and affect the ‘burden of disease’ of myasthenia,” says Mantegazza. True, new drugs are expensive. But we must not forget, continues the neurologist, that this is a chronic disease, traditional treatments are very heavy and have serious repercussions on daily activities. Spending more in the beginning means saving in the future, and significantly improving patients’ quality of life.