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[Heterozygous familial hypercholesterolemia in Spain. Description of 819 non related cases]
Rodrigo Alonso1, Sergio Castillo, Fernando Civeira
1Unidad de Lípidos. Servicio de Medicina Interna. Fundación Jiménez Díaz. Madrid. Spain.
Insights
Heterozygous familial hypercholesterolemia (hFH) is a common inherited disorder. Cardiovascular disease risk in Spanish hFH patients is linked to LDL-c, age, gender, smoking, hypertension, and BMI.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Context:
- Heterozygous familial hypercholesterolemia (hFH) is a prevalent genetic disorder.
- Premature cardiovascular disease (CVD), particularly coronary artery disease, is a major complication in hFH patients.
- Understanding hFH clinical manifestations and CVD characteristics in specific populations is crucial for risk stratification.
Purpose:
- To analyze the clinical manifestations of hFH in the Spanish population.
- To characterize the prevalence and risk factors of cardiovascular disease in Spanish hFH patients.
Summary:
- A study analyzed 819 Spanish hFH patients (449 females, 370 males) from 69 lipid clinics.
- Mean total cholesterol was elevated in both genders, with higher HDL-c in females. Xantomas were present in 22.5% of cases.
- Premature CVD was observed in 21.7% of patients, more frequent in males. Multivariant analysis identified age, gender, tobacco use, LDL-c, blood pressure, and BMI as significant CVD predictors.
Impact:
- The findings indicate that clinical manifestations and CVD in Spanish hFH patients align with international data.
- Identifies key modifiable and non-modifiable risk factors for CVD in hFH, informing targeted prevention strategies.
- Highlights the importance of comprehensive risk assessment including lipid profile, lifestyle factors, and anthropometrics in hFH management.
Background:
Heterozygous familial hypercholesterolemia (hFH) is an inherited disorder commonly found among the general population. Premature cardiovascular disease, especially coronary artery disease, is the most important complication in these patients. The aim of this study was to analyze the clinical manifestations and the characteristics of cardiovascular disease in the Spanish hFH population.
Patients And Method:
Analysis of 819 non-related cases (449 females and 370 males), with a clinical diagnosis of familial hypercholesterolemia, from 69 lipid clinics. Clinical and lipid profile at diagnosis along with personal and familial backgrounds related to cardiovascular disease were registered in a central database.
Results:
Mean total cholesterol at diagnosis was 412 (87) mg/dl in women, and 400 (78) mg/dl in men (p = 0.049). HDL-c was higher in females than in males (57 [14] vs. 47.7 [12.7] mg/dl, respectively, p < 0.0001). Xantomas were present in 22.5% of cases, and 21.7% of subjects had evidence of premature cardiovascular disease which was more frequent in males than in females (30.8% and 14.3%, respectively; p < 0.001). In a multivariant analysis, a significant and positive correlation was observed between cardiovascular disease and age, gender, tobacco consumption, LDL-c levels, blood pressure and body mass index.
Conclusions:
The clinical manifestations and the presence of cardiovascular disease in Spanish hFH patients are similar to those described in other populations. LDL-c levels, age, gender, smoking, hypertension and body mass index are important predictors of cardiovascular disease in these patients.