Familial hypercholesterolemia

Care pathway in familial hypercholesterolemia

Cholesterol is an essential molecule for the body and its metabolism. In the blood, it is transported thanks to LDL, “bad cholesterol” and HDL, “good cholesterol” .

The cholesterol level is an important indicator in the follow-up of patients suffering from cardiovascular diseases: arterial hypertension, coronary diseases, etc., diabetes or a familial form of hypercholesterolemia.

Familial hypercholesterolemia is an autosomal dominant dyslipidemia . It is an inherited disease. There is therefore necessarily one of the parents who presents the same metabolic anomaly. It must be distinguished from forms called polygenic which are generally less severe. However, these may be associated with hypercholesterolemia in the family.

Familial hypercholesterolemia is expressed by lipid dysfunction. Cholesterol cannot enter cells due to the absence of LDL-cholesterol receptors on the surface. It accumulates in the blood which leads to an increase in triglycerides (bad cholesterol).

This accumulation of cholesterol contributes to the appearance of atherosclerosis (artery disease) responsible for thrombosis, stroke and infarction. Atherosclerotic plaques are caused by the accumulation of cholesterol in the arteries. The untreated autosomal dominant family forms are associated one time out of two in men with a coronary event occurring before the age of 50. When the treatment is well conducted, accidents before this age become the exception. The reason for such severity comes from the fact that it is the only hypercholesterolemia that exists from birth, so the exposure time to hypercholesterolemia is much longer than polygenic forms which begin later in life. In terms of frequency, it affects around one child in 300. Statin treatment should be given from the age of 8-10 years. This form of hypercholesterolemia is unfortunately misdiagnosed and therefore poorly treated, which leads to a progressive deterioration of the metabolism.

To support families affected by this anomaly and who are undergoing a radical change in their way of life, the experts at the IHU ICAN have set up an innovative care pathway.

Patients are referred by their city doctor or can make an appointment directly with the teams of the Department of Endocrinology, Metabolism and Prevention of Cardio-Vascular Risks of the IE3M. http://institut-e3m.aphp.fr/service-endocrinologie-metabolisme/

hypercholestérolémie familiale

The first step is to assess the patient’s level of hyperglycaemia in order to then offer him a personalized care pathway adapted to his level of risk of developing other metabolic diseases. This level of risk is assessed using a “familial hypercholesterolemia” score.

The score takes into account family history, personal history, clinical signs, biological results. The score must be supplemented by a genetic test in order to establish the most precise diagnosis possible and to propose a tailor-made patient pathway.

Depending on the results of the genetic tests, it may be proposed to search for hypercholesterolemia at the family level.

For patients with familial hypercholesterolemia, it is essential to provide dietary support in order to correct their eating habits if necessary and to support them in these changes. You have to learn to recognize hidden fats and to focus on the right food categories without making this new diet too restrictive. Therapeutic education consultation then plays a major role in supporting patients, it makes the patient aware of the risks of his disease to prevent the development of other pathologies such as cardiovascular diseases.

The level of risk of developing cardiovascular disease is established from the calcium score.

The calcium score is an indicator of cardiovascular risk, it is a rapid non-invasive imaging test that measures atherosclerotic plaques on the coronary arteries.

These scores are fundamental tools in the prediction of the metabolic risk of each individual in order to better support people with a high risk of developing cardiovascular disease and to avoid unnecessary examinations for people with a low risk.

Patients are also referred to structures that can help them understand their illness on a daily basis. https://www.anhet.fr/

hypercholestérolémie familiale traitement

Only innovative research will make it possible to develop new treatments.

Thanks to the implementation of this coordinated care pathway, the team from the Endocrinology, Metabolism and Prevention of Cardiovascular Diseases department of the Pitié-Salpêtrière hospital actively participates in the national register of hypercholesterolemia, which allows research to be carried out particularly concerning the determinants of treatment in children.

The department participates in the evaluation of all new therapies for heterozygous and homozygous familial hypercholesterolemia.