Detection and treatment of Familial Hypercholesterolemia

Familial hypercholesterolemia (HF) is the most common genetic cause of premature coronary heart disease. This cardiological problem manifests itself already from birth and is transmitted to the middle of the offspring.

The prevalence of heterozygous HF is 1 in 300-500 people in the general population, estimated that more than 100,000 people in Spain have HF .

HF accelerates coronary atherosclerotic disease from one to four decades, causing a significant decrease in life expectancy. The figures indicate that 55% of men and 24% of women with FH in the 50s have had symptoms of coronary disease, such as myocardial infarction and angina pectoris. Therefore, we are faced with a public health problem and its diagnosis and treatment are mandatory.

Diagnosis of Familial Hypercholesterolemia

The diagnosis of HF is based on the finding of high cholesterol levels (generally> 220 mg / dL), a family history of hypercholesterolemia, a history of premature CHD and cholesterol deposits in the form of xanthomas and / or corneal arteries (tendon xanthomas although pathognomonic HF are found in less than 30% of cases).

We know that its early diagnosis and treatment has shown a marked reduction in coronary risk and a prolongation of life. But the vast majority of patients with HF continue without diagnosis or treatment.

There are a number of barriers that hinder proper diagnosis and treatment:

• patients with more severe HF are usually detected in specialized care or lipid clinics; however, most patients are in the first level of care or primary care;
• numerous individuals and families with HF are often overlooked among people with CD caused by the most common risk factors and therefore are not diagnosed of genetic hypercholesterolemia;
• the majority of patients treated have insufficient statins or little combined treatment and, in addition, treatment is usually started at late ages when atherosclerosis has already developed, due to the exposure of high levels of LDL-C throughout life ;
• there is insufficient awareness in health systems and there are missing detection programs and registries that help to follow up patients, to know their evolution and adherence to treatment.

Family Hypercholesterolemia in Spain

In Spain, since obtaining the gratuity for the chronic treatment of FH in 2004, there has been a greater awareness and an impulse in its diagnosis. It is estimated that 20% of the population has been diagnosed , 60% of which by clinical criteria.

Since 2004 the Family Hypercholesterolemia Foundation of Spain has launched a national program (in collaboration with specialized hospital centers) to detect HF in family cascade.

To date 4,155 people belonging to 771 families have been recruited with an average of more than 5 persons per family. About 3,000 people in this study, conducted by Safeheart , have positive genetic diagnosis. An important finding in this study is that in spite of being a hereditary disorder, approximately 25% of the relatives detected were unaware that they had an FH and 20% did not receive lipid-lowering treatment.

Treatment of Familial Hypercholesterolemia

International and national guidelines consider patients with high CV risk HF and therefore the target for LDL cholesterol should be <100 mg / dl or <70 mg / dl with a previous history of CV disease or at least achieve a reduction of 50% in LDL-C levels.

However, there is little information on the lipid-lowering therapy used and the achievement of achieved goals in LDL-C in the actual clinical practice of follow-up studies. On the other hand, national registries are useful tools to provide information on lipid-lowering treatment and to know the health status of the studied population.

Patient data from the Spanish study SAFEHEART were analyzed, recruiting a total of 3,745 individuals aged 18 years or older, of whom 2,752 had a genetically confirmed diagnosis of HF between January 2004 and November 2013. Follow-up data, including a complete lipid profile in 2,168 patients. The mean age was 49.5 years: 1.264 were males (45.9%). The mean follow-up time was 5.1 years. CV disease was 13% and CV disease was 9.4% premature.

The results obtained in the study show that there is still scope for improving lipid-lowering treatment, in terms of using more combination therapy and higher doses of high-efficiency statins. However, these results also show the enormous difficulty that patients with HF have to reach the objectives in LDL-C, despite using the best lipid-lowering treatment available.

These data highlight the medical need for new cholesterol-lowering options in combination with current treatment to achieve low levels of LDL-C to help prevent the development of premature CV disease.

Recommendations and conclusion

The lack of a diagnosis is a problem for the effective prevention of premature CA, and affects the quality of life and the economic and social contribution of people and families with HF. This also causes huge health costs.

Improving the diagnosis and treatment of people and families with FH requires a greater awareness on the part of those responsible for health systems. At a time when resources need to be prioritized in health interventions, biases that sometimes lead to costly, high-tech interventions to the detriment of prevention programs. HF has become the paradigm of a preventable and easily treatable chronic disease.

HF is a public health challenge that affects the family and has an easy diagnosis and treatment. Since most people with HF are asymptomatic, the involvement and training of the primary care physician is necessary to ensure proper care of families with HF.

Most people with FH should be treated in primary care, preferably in a family context, while more complex cases including children should be controlled in specialized or lipid clinics.

Patient support organizations have taken an increasingly active role in sensitizing the population and controlling the functioning of registries for the facilitation of diagnosis and treatment.