Promoting awareness and improving early detection of familial hypercholesterolemia (FH), a genetic condition, were the key points of an event held on 24 September. EURACTIV Italy reports.
The EURACTIV event was supported by Sanofi in collaboration with the Associazione dei Pazienti GIP-FH and SISA (Italian Society for the Study of Atherosclerosis) and was held on 24 September, on FH day.
The roundtable event, moderated by Maria Emilia Bonaccorso of Italian press agency ANSA, was opened by Federico Gelli of the Italian Chamber of Deputies’ social affairs committee. Mr Gelli stressed the relevance of the issue and the need to involve all stakeholders. He prioritised the need to run information campaigns and to disseminate awareness about a disease that “cannot be cured simply through a healthy lifestyle and proper diet.”
“Incorrect or late diagnosis,” can have a high social cost, as well as potentially serious health problems for the patient. To combat this, doctor-preparation and attention to detail are paramount.
Representing the Italian institutes, but from a professional viewpoint, was Andrea Mandelli from the economic planning and budgetary committee, who is also president of an interprovincial pharmacists’ organisation. Mr Mandelli said it was fundamental that resources are allocated properly and that the use of public money in tackling familial hypercholesterolemia (FH) must be rationalised. He also added that the network of pharmacists is invaluable, as they have a role to play in ensuring that patients adhere to the medication prescribed to them.
Afterwards, Alberico L. Catapano, Director General of the SISA foundation, President of the European Atherosclerosis Society (EAS) and professor of pharmacology at Milan University, provided an overview of the disorder in Italy, within a European context.
EAS’s data showed that in many countries FH is badly diagnosed, with the exception of 2-3 European Union countries that have received “strong state support,” like the Netherlands, explained Dr Catapano. In this context, Italy is among the countries in which FH diagnosis is very low. In fact, figures show that 1% of patients are diagnosed through genetic testing, while around 8% are diagnosed clinically.
The professor said that the blame for this low diagnosis rate should be shared by everybody. It is essential that everyday people, doctors, institutions and health care providers are aware of the disorder. Otherwise, he concluded, health care costs will increase and a high quality of life for a wide population of patients will be difficult to guarantee.
Next up was Francesco Calzetta, a young Italian who shared his personal experience of living with the disorder. In his case, FH was diagnosed very late. Despite his high cholesterol levels that had been observed since a young age and numerous cases of FH in the family, Francesco had never been given the necessary drugs to control his cholesterol levels. Due to this oversight, at the age of 25 Francesco suffered two consecutive heart attacks. It was only after this that he was prescribed the drugs necessary to control the disorder.
Gian Paolo Tibolla, Vice President of GIP-FH, represented the association of patients and called upon the Italian institutions to improve diagnosis and care, putting forward a number of proposals to that end.
- Firstly, in terms of blood analysis, LDL cholesterol, the so-called “bad cholesterol”, must always be recorded, so that it can be used by doctors during diagnosis and subsequent care.
- Secondly, the number of centres specialising in the disorder should be increased at a regional level.
- Thirdly, bureaucratic streamlining should be carried out, in order to facilitate access to drugs, as well as eliminating the obligation for patients to complete an annual check-up, which inconveniences people.
- Finally, a disease register should be set up by the Italian authorities so that the diffusion of the disorder in the country can be monitored.
Mr Tibolla concluded by urging the Italian authorities to make “the necessary effort” to reach the standards in diagnosis attained by the Northern Europe countries, such as Norway, England and, in particular, the Netherlands. Federico Gelli responded to Mr Tibolla’s appeal by proposing to question Beatrice Lorenzin, the health minister, over an issue that seems only to be well-known to experts.
Andrea Bartuli, an expert at a paediatric hospital in Rome and a member of the SIP (Italian Society of Paediatricians) focused on FH in the younger generations. Mr Bartuli explained that, in Italy, around 22 thousand infants and children suffer from FH. Asymptomatic infants and children who, from the age of six or seven, begin to suffer vascular wall damage that could lead them to suffering an acute cardiovascular event from their mid-twenties onwards.
If caught in time, these children, from a cardiovascular point of view, can expect to “have a similar life expectancy to healthy children,” added Mr Bartuli. He went on to propose that the health budget should provide for the periodic examination of family history and cholesterol levels by family doctors.
At the conclusion of the event, Gerardo Medea, member of the SIMG (Italian society of general medicine), reiterated how difficult FH is to diagnose, both from a clinical point of view and through examination of a patient’s family history. Mr Medea continued by underlining the essential role of the family doctor in diagnosing genetic dyslipidaemia. Once a diagnosis has been made, screening, as a tool, becomes invaluable, which Medea believes should be coordinated by a central hub.
Medea then addressed one of the main issues with FH, which is non-adherence to prescribed medication by patients, which is observed in more than half of medical cases. He mentioned some solutions that have already been put into place, such as an automatic system that sends alerts when LDL levels are not as they should be.
The initiative was preceded by another event promoted by Sanofi on 23 September in Rome and attended by numerous representatives of the media and the health industry.
In a series of events intended to promote international awareness of FH, another conference will be held on cholesterol on 29 September, World Heart Day, at the European Parliament in Brussels.