Today, 24 September, is observed as Family Hypercholesterolemia (HF) Day. It is the most common hereditary alteration of cholesterol, which is carried from birth by low-density lipoprotein (bad cholesterol or LDL cholesterol) with high levels of cholesterol.
Without proper diagnosis and treatment, familial hypercholesterolemia causes high rates of cardiovascular complications. Although the prevalence of HF in our country is not precisely known, it has not been clearly diagnosed. In undetermined cases there is a high probability of suffering a
Serious cardiac complication.
Detection and treatment of HF in childhood
Childhood is the optimum time for early detection and treatment
Therapeutic: Lifestyle changes and in some cases treatment with statins. It has been observed that if these children are detected and treated early, their prognosis is much better. This is said by Dr. Celia Rodriguez, nutritionist dietitian at the Hospital de Sant Joan de Reus, who devoted her doctoral thesis precisely to the study of familial hypercholesterolemia in children aged 4 to 18 years.
“We have seen that affected children have total blood cholesterol greater than 245 mg/dL, and LDL (bad) cholesterol greater than 170 mg/dL. But we have also seen that the diet is associated with the smallest LDL particles (increased vascular risk). Thus, we can confirm that the control of HF in minor patients requires adherence to an adequate diet formulated in a healthy lifestyle”, says Dr. Rodriguez.
low death rate
If diagnosed early and treated appropriately, the presence of serious cardiovascular events in patients with HF can be reduced. Dr. Victoria Marco, a research nurse at the Lipid Unit of the Miguel Cervet University Hospital in Zaragoza, has shown in her doctoral thesis that “the classic phenotype of heterozygous familial hypercholesterolemia (HEFH) is substantially modified, notably more Life expectancy free of heart disease in these patients due to”.
“Thanks to a more accurate diagnosis and more effective treatment, we can say that the current phenotype of genetically characterized HFH is significantly different from that of the previous century, with a lower prevalence of cardiovascular disease and lower mortality,” said Dr. Marco concludes.
Among its objectives of SEA is the diagnosis, treatment and study of familial hypercholesterolemia. For the first purpose, since 2019, the company has promoted ARIAN PROJECT, which reaches its third edition ARIAN PLUS in 2022, and its results will be known during the first quarter of 2023.
This third edition of the global ARION project focuses on the diagnosis of new patients with HF with cascade screening among relatives.
Index cases identified by centers participating in ARIAN I and ARIAN II phases.
The index case is the first detected HF patient in a family. The person has ancestors, some of whom may have transmitted the heterozygous mutation that causes the disease, and which can also be studied. Similarly, the index case may have descendants for whom the mutation is transmitted and who are genuine reasons for screening, as being smaller they may benefit better from preventive work.
ARIAN PLUS aims to diagnose at least 1 in 3 HF patients from each index case. The medical literature indicates that for each index case, 4 first-degree relatives affected by the disease can be identified.