Rare diseases, Liguori (UniBo): “New drugs revolutionize myasthenia gravis therapy”

The neurologist: “We can use them in an early stage, avoiding serious side effects”

“Thanks to the advent of new drugs, we currently have the opportunity to completely overturn the therapeutic paradigm of patients with myasthenia gravis, also leading to the use, already at an early stage, of these new drugs and avoiding side effects for patients” heavy, “otherwise present, with the use of the common drugs used up to now”. Thus Rocco Liguori, full professor of neurology at the University of Bologna and director of the Neurological Clinic Uoc, Irccs Institute of Neurological Sciences of Bologna, on the sidelines of the press conference ‘Knowing and communicating myasthenia gravis’, organized by Argenx in Milan to spread knowledge and information regarding the rare chronic autoimmune disease.

“We can also modify our therapeutic program – explains Liguori – depending, for example, on the presence of other pathologies in the patient, such as diabetes and hypertension, conditions perhaps due to the massive use of drugs such as steroids, a first choice drug in these patients, in addition to the symptomatic. Myasthenia gravis – recalls the professor – develops because, for reasons not yet known, the patient’s immune system begins to produce antibodies that affect the fundamental anatomical structures, such as the junction neuromuscular. This structure, the most altered in myasthenia – he clarifies – is the one that allows the transfer of the nervous impulse from the nerve to the muscle, determining its contraction. The presence of an antibody directed against this structure prevents normal muscle contraction. From here arise the symptoms of patients with myasthenia, which can have a variable severity depending on the greater or lesser involvement of these structures”.

The symptoms at onset “concern, for example, the drooping of the eyelid (ptosis) or double vision. This last symptom – explains Liguori – appears very suddenly, can be present in the morning upon awakening and be very fluctuating throughout the day. Double vision may even be absent in the morning and appear after prolonged physical activity, or it may disappear for months and then return. The disorders linked to the onset of myasthenia are therefore extremely difficult to quickly frame in a clinical context. Then there are other less frequent disorders such as difficulty swallowing and chewing or, in some conditions, difficulty breathing.”

The main problem with myasthenia gravis is represented by the difficulty of diagnosis. “It happens that, before receiving a diagnosis – highlights Liguori – the patient must travel from one specialist to another, by virtue of this non-specificity of the symptoms: to the ophthalmologist if he has visual problems, to the ENT laryngologist if he has a swallowing disorder or even to the pulmonologist if he begins to have respiratory problems, and then reaches, sometimes with considerable delay, the neurologist who sets up a diagnostic procedure. The diagnosis – he continues – occurs mainly through the measurement of circulating antibodies specific to this disease, in particular the anti-acetylcholine receptor antibody, after which the patient is invited to perform an electromyographic test to highlight the dysfunction of the neuromuscular junction and also one study of the mediastinum”.

There is a lack of certain data on the incidence of the disease. “Although it is certainly a rare disease – concludes Liguori – myasthenia gravis is not that rare. In fact, in Italy the incidence is estimated to be 1 in 5 thousand inhabitants. We must take into account that in Italy a national study has never been conducted that took into account the real incidence of this disease. The opening of a specific register could certainly help us in this sense.”