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Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries
Raul D Santos1, Mafalda Bourbon2, Rodrigo Alonso3
1Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil; Preventive Medicine Centre and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
Insights
Familial hypercholesterolemia (FH) affects 1.2 million in Ibero-America, yet only 27,400 are diagnosed. Shared genetic mutations and care gaps highlight the need for improved FH diagnosis and treatment across the region.
Area of Science:
- Cardiovascular Genetics
- Epidemiology
- Public Health
Background:
- Familial hypercholesterolemia (FH) epidemiology and care data are scarce in Ibero-American countries.
- The Ibero-American FH network was established to address diagnostic and treatment disparities for FH in the region.
Purpose of the Study:
- To characterize the clinical, molecular, and organizational aspects of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.
- To identify current gaps in FH screening, genetic testing, and patient support across Ibero-America.
Main Methods:
- A descriptive analysis of country-specific data was conducted.
- Data collected included FH cascade screening programs, molecular diagnostic rates, clinical practice guidelines, and the presence of patient organizations.
Main Results:
- An estimated 1.2 million individuals in Ibero-America have heterozygous FH, with only 27,400 diagnosed.
- Active cascade screening programs are limited to Spain, Brazil, Portugal, and Uruguay.
- Cardiovascular disease prevalence ranges from 10% to 42%, with significant variations in molecular identification rates (highest in Spain at 8.3%).
- A few key mutations account for a substantial portion of FH cases in Spain, Portugal, and Brazil.
- Access to LDL apheresis and specific FH guidelines/patient organizations is inconsistent across the region.
Conclusions:
- Ibero-American countries exhibit common genetic mutations underlying FH.
- Significant gaps persist in FH diagnosis, treatment, and patient support throughout the region.
- Collaborative efforts are crucial to improve FH care standards in Ibero-America.
Background:
There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region.
Objective:
To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.
Methods:
Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America.
Results:
From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanish-speaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations.
Conclusions:
Ibero-American countries share similar mutations and gaps in FH care.