# Screening for Familial Hypercholesterolemia in Childhood: An Overview of Current Practices Around the World

## TL;DR

This paper reviews global strategies for screening children for familial hypercholesterolemia, a genetic disorder that increases early heart disease risk.

## Contribution

The study provides a comprehensive overview of pediatric FH screening practices across diverse global contexts.

## Key findings

- Screening strategies vary widely, from small pilot studies to advanced proposals in different countries.
- Low-resource countries face significant challenges in implementing FH screening programs.
- Early diagnosis and treatment in childhood are crucial for reducing cardiovascular mortality.

## Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder with a fairly constant worldwide prevalence of 1 case per 311 individuals worldwide. It is characterized by severe hypercholesterolemia from birth, early atherosclerosis and death from cardiovascular disease at a young age. Diagnosis and treatment from childhood are essential to reduce cardiovascular mortality. Many countries have developed a strategy of implementing pediatric screening, which has led to an increase in diagnoses. This paper evaluates the screening strategies implemented in different countries worldwide. First, we examined which schemes were preferred in various national contexts in Europe. Next, we evaluated the screening methods used in the US, Canada, Australia and Japan. Finally, we researched the screening strategies proposed in some low-resource countries, discovering the difficulties and limitations they face. We have highlighted a wide range of realities, from small-scale pilot studies to cutting-edge proposals. We have also emphasized that, while the topic is certainly of interest, it is burdened by multiple difficulties and unresolved questions.