by Laura D'Ettole

Interview with Prof. Giuseppe Limongelli, director of the Campania Region Rare Disease Coordination Center at the Monaldi hospital

Professor Limongelli

Prof. Giuseppe Limongelli

They have successfully treated the first child in Italy affected by a particular form of congenital cardiomyopathy and represent a powerful attraction for patients affected by rare diseases throughout the southern area. Prof. Giuseppe Limongelli, director of the Rare Diseases Coordination Center of the Campania Region at the Monaldi hospital, Azienda Ospedaliera dei Colli (Naples), and expert in pediatric cardiomyopathies, explains their activity and their innovative approach.

Professor, can you help us understand when we talk about rare diseases in relation to the population?

Rare diseases by definition are a vast group of diseases present in a small number of people, less than 0,05% of the population, i.e. less than one affected person out of 2000 or in other words less than 5 people out of 10.000 inhabitants. Said like this, it seems like a small niche, but when we move from percentages to absolute numbers, their relevance is much more evident. According to the Orphanet Italia network, there are around 2 million patients with rare diseases in our country: 70% of the cases are pediatric patients. In Campania alone we can count almost 30 registered patients. As you can see, this is a significant group, within which we can record the presence of as many as 7/8000 types of rare pathologies that are different from each other, which consequently generate specific problems linked to their rarity.

Now let's talk about cardiomyopathies, that is, rare heart muscle diseases

In the pediatric age they are generally few, on the contrary in the adult patient they are more frequent than one might suppose. Let's take the example of Fabry's disease or Amyloidosis, pathologies on which research has paid particular attention, well it is very important to recognize and distinguish them, when a diagnosis of hypertrophic cardiomyopathy is made, because we have an effective specific therapy to combat them. Similarly, in the pediatric field, heart muscle diseases of genetic origin, or pathologies linked to metabolic syndromes or diseases may occur.

Here it is enough to mention Pompe disease or Noonan syndrome: we have specific therapies for both. For the latter in particular, a rare form of congenital cardiomyopathy, the first Italian child was successfully treated at Monaldi in April, thanks to the administration of an innovative drug. In other words, today it is not enough to say "you have cardiomyopathy", but you need to give it a name, precisely define the cause in order to treat it with effective weapons.

It is a significant change in medical knowledge and consequently in the doctor-patient relationship

It is a concept that implies a completely different management of the patient. It is no coincidence that with this approach we are becoming a model of precision medicine: precise in diagnosis and therefore in therapy. Today awareness of the need for training of specialist doctors and information for the general public is growing. If I have an early suspicion I can reduce the diagnostic delay and therefore increase the efficacy of the therapy. As the Campania Region we have carried out an information campaign on a sailing boat in many cities (Left the sails - Wind in the stern for research - #thinkrare), up to Marseilles, to let people know what are the alarm bells that can trigger the suspicion of a rare disease, and teach to listen to them.

How many centers for rare diseases are there in Italy?

Contrary to what one might think, Italy is the country with the most reference centers in Europe, in almost all regions. The Monaldi hospital in Naples in particular is one of the ten reference centers in our country for rare heart diseases. In southern Italy ours is the only reality and therefore we welcome a large number of patients, adults and children, not counting our genetic counseling clinic and the multidisciplinary (multi-specialist) clinic.

Among many things, you are the scientific and institutional referent of patient associations for rare diseases at the Monaldi hospital, but also in the Campania region. Is this joint part of your “precision medicine” model?

The patient is a source of understanding, he represents the other side of the coin. We doctors have our own vision, but it is necessary to constantly compare it with that of the patient. The doctor is clinical and scientific, the patient has a sphere of unsatisfied needs that must be highlighted and understood: starting from inaccurate diagnoses, to doctors who do not take care of them, passing through analyzes that are difficult to perform or therapies that are too expensive. Each of them is a source of valuable information. After all, who do we do healthcare for? Ten patients or trade associations can say ten different things, it is true, but a virtuous collaboration between institutions, doctors and patients is the only way to give effective answers and associations between patients and doctors are fundamental.

Medico-social consequences of rare diseases

Scientific and medical knowledge on rare diseases is sometimes scarce and inadequate. For a long time they have been ignored by doctors, researchers and institutions and scientific and political activities aimed at research in the field of rare diseases did not exist until a few years ago. For many of these diseases there is still no effective cure available, but numerous appropriate treatments can improve the quality of life and prolong its duration. In some cases substantial progress has been achieved, demonstrating that we must not give up but, on the contrary, pursue and intensify efforts in research and social solidarity.

All people affected by these diseases encounter the same difficulties in reaching the diagnosis, in obtaining information, in being oriented towards competent professionals. Equally problematic are access to quality care, social and medical management of the disease, coordination between hospital care and basic care, autonomy and social, professional and civic inclusion.

People affected by rare diseases are more vulnerable psychologically, socially, economically and culturally. These difficulties could be overcome with appropriate policy interventions. Due to lack of sufficient medical and scientific knowledge, many patients go undiagnosed and their diseases go unrecognized. Therefore, the management of these patients is mostly symptomatic. Patients are the ones who suffer the most from the difficulties associated with taking charge.

The regional network of reference facilities for rare diseases

A Rare Disease Center is a single Department/Departmental Organizational Structure/Operational Unit, present within an Institution/Hospital/University Company (Presidium of the MR Network), whose activity concerns one or more Rare Diseases, and where the patient can go to receive assistance and/or to formulate the diagnosis and certify his/her pathology.

The regional network of reference facilities for rare diseases (network facilities) was established in conjunction with the creation of a regional facility for the coordination of facilities, on the basis of proven experience in diagnosis and therapy.