The Familial Hypercholesterolemia Foundation (FHF) has urged that familial hypercholesterolemia (FH) be included in neonatal screening, so that it becomes the first step of a strategy for early detection aimed at preventing the development of cardiovascular disease.
The request is framed within the celebration of the International Day of Familial Hypercholesterolemia, which takes place this Thursday and with which the entity aims to raise awareness and social and institutional consciousness about this genetic pathology, defined by an increase in LDL cholesterol from birth and by the early onset of cardiovascular disease.
As pointed out by the FHF, implementing an early diagnosis plan that starts with screening in newborns would then allow for a cascade screening to locate the disease in parents, grandparents, siblings, and other close relatives, and to initiate the appropriate treatment in each case.
At this moment, Andalusia is developing a pilot study with the aim of advancing towards the extension of neonatal screenings in the healthcare system. "FH is a model of preventive medicine and its early detection from childhood should be a priority for health governments," emphasized the Familial Hypercholesterolemia Foundation.
The founder and president of the FHF, Pedro Mata, has stressed that achieving a diagnosis at an early age and treating the disease on time allows those affected to "have a normal life expectancy." Therefore, he has demanded that FH be addressed as "a public health priority" and has called for "political will" to promote it.
Support from scientific evidence
The scientific study "Safeheart," developed by the Familial Hypercholesterolemia Foundation at the request of the Ministry of Health, showed that for every six adults with FH who receive appropriate treatment, one myocardial infarction is prevented in the following 10 years.
Overall, early detection could prevent 30,000 coronary episodes in the next decade in Spain, reducing the significant personal and economic impact they entail.
The initiation of treatment for FH in childhood or adolescence decreases the accumulated burden of LDL cholesterol compared to starting it 22 years later, as often occurs with parents, and allows reaching LDL cholesterol levels comparable to those of relatives without FH, according to follow-up conducted for more than 12 years.
"These results demonstrate that FH is a pediatric condition. And its early detection and treatment can reduce cardiovascular risk throughout life to a level similar to that of the general population, both in men and women," indicated the professor of the Department of Medicine at the University of Seville Antonio Javier Vallejo, the first signer of the study.
In the same line, the head of the Internal Medicine Service at the Reina Sofía University Hospital of Córdoba, José López Miranda, has defended the need to focus on the prevention of FH rather than on addressing its complications. "With about three euros, a cholesterol determination can be made in the newborn, FH can be diagnosed early, and lives can be saved," he explained.
What is familial hypercholesterolemia
Familial hypercholesterolemia affects about one in every 250 people, which translates to about 200,000 cases in Spain, of which 30,000 correspond to the pediatric population. Despite this, only about 50,000 people currently have a confirmed diagnosis.
The disease occurs in both women and men and, if left untreated, can reduce life expectancy by 20 to 30 years. However, there are effective therapies available to control cholesterol and prevent premature cardiovascular disease.
The less common and more severe variant, homozygous familial hypercholesterolemia (HFHo), is estimated to affect one in every 300,000 people. In these patients, LDL cholesterol levels often exceed 500 mg/dL and, if not identified and treated before the age of two, can trigger a myocardial infarction or severe aortic stenosis before the age of 10.