Cyprus University of Technology: CUT participates in a research project on paediatric screening for hypercholesterolemia

The Cyprus University of Technology (CUT) participates in the research project “PERFECTO” which aims to establish a scientific basis for the adoption of Pediatric Screening for hereditary hypercholesterolemia (FH) throughout Europe.

29th of February has been established by EURORDIS as World Rare Disease Awareness Day with more than 6000 distinct rare diseases registered, affecting a total of 30 million people in Europe.

One of these is the homozygous form of Hereditary Hypercholesterolemia (HoFH), with a prevalence of 1 person in 300 000. It occurs when a child inherits two copies (from both parents) of a gene that affects cholesterol metabolism with the same mutation. If not diagnosed in time with prompt initiation of treatment, #HoFH can cause serious heart disease in childhood.

While the homozygous form of hereditary hypercholesterolemia (FH) is a rare condition, the heterozygous form (one copy of the mutated gene) #HeFH is the most common single-gene disorder in the world, affecting 1 in 300 people. This means that 2.5 million Europeans, 2 million adults and 500,000 children, have FH. However, to date, only around 10% are diagnosed and treated, causing a high proportion of preventable cardiovascular disease. FH is characterised by high levels of LDL ‘bad’ cholesterol from a young age, which is deposited in the arteries from birth and increases the risk of developing atherosclerotic cardiovascular disease (ASCVD) at a young age.

Early screening, detection, and personalised prevention, which means appropriate treatment combined with a healthy lifestyle, is the key to a “normal and cardiovascular disease-free” life in the heterozygous form.

Recognizing the gap in early diagnosis of the disease and the best practices regarding pediatric screening for hypercholesterolemia, the research project PERFECTO (Preventing thE PReventable – Familial HypErCholesterolaemia paediaTric screening for cardiOvascular health”) is co-funded by the European Union, is a landmark initiative for personalised prevention of cardiovascular disease, addressing the often, neglected genetic/hereditary hypercholesterolaemia through the lens of social innovation.

It aims to establish a scientific basis for the adoption of Paediatric Screening for Hereditary Hypercholesterolemia (FH) across Europe, which will have a positive impact on affected individuals, their relatives and the wider society, as well as on the general healthcare system, which is currently facing serious challenges in the aftermath of the pandemic.

The proposal was developed by a consortium of partners, which includes both patients/citizens and experts in models applied to healthcare systems and health technology assessment, as well as social science and participatory research, addressing public health needs in a context of instability and limited resources, and patient/citizen advocacy and education. The consortium partners are FH Europe Foundation (coordinator) and EuroScan (Germany), Cyprus University of Technology (Cyprus), InnoMed (Romania) and EPHA (Belgium).

The focus of PERFECTO is to promote the implementation of paediatric FH screening across Europe by creating a more enabling and supportive environment, focusing in particular on countries/populations where the incidence of cardiovascular disease is particularly high and the awareness of wider stakeholders is lower.

PERFECTO, based on the experiences of the European FH Network and ongoing awareness raising activities, recognises that there is an unmet need in relation to a better understanding of stakeholder attitudes and decision-making processes necessary to promote the implementation of paediatric FH screening.

The project will use a citizen-led, participatory approach to develop and evaluate a personalised communication model that can be generalised beyond FH and used/replicated for other conditions with common risk factors such as cancer and metabolic disorders.

PERFECTO will focus its efforts at the European level on the issue of Paediatric FH screening, but will also aim to reach the whole population, not only those already diagnosed, as this is an essentially undiagnosed disease, but also to empower parents to seek and receive information and screening. Particular emphasis will be placed on populations that are not usually included in health policy planning, namely the Roma population in Romania.

The project aims to overcome barriers (physical, cognitive, cultural, language) by using open and innovative practices in a digital environment through the development of an integrated personalized communication model (PCM) and providing an alternative model/supplementary learning environment oriented to real needs and concerns to enable the adoption of pediatric screening for FH.

In this way, PERFECTO will have a pragmatic, patient- and citizen-driven approach, with a significant impact on the implementation of pediatric screening for FH and ultimately contributing to reducing the burden of cardiovascular disease and health inequalities.

The project is taking shape at an important moment when the European cardiovascular disease community is actively supporting a common approach to cardiovascular disease to reduce the public health burden.

More information on the project and its progress will be communicated via a dedicated website.

Source: Cyprus University of Technology | News (