Diagnosis of familial hypercholesterolemia index patients and their family members

Olivier Descamps 1, Fabian Demeure ², Caroline Wallemacq3, Ann Mertens 4, Ann Verhaegen 5, Johan De Sutter 6, Michel Langlois 7, Ernst Rietzschel 8. Published in the journal : December 2021 Category : Actualités thérapeutiques

Summary :

Familial hypercholesterolemia is a common, yet often underdiagnosed, genetic disease. Nevertheless, this condition is easily manageable provided that the disease is detected early enough and appropriately treated. Our article presents some diagnostic tools for this condition. In a first patient of an as yet unexplored family, referred to as the index patient, we propose to use the DLCN (Dutch Lipid Clinic Network) score, which should be followed by genetic analysis, depending on the case. Once the diagnosis has been confirmed in this index patient, the disease can easily be identified in other first-degree relatives based on a reference table that has presented in this article. This table provides the threshold values of LDL cholesterol concentrations, according to age and gender, at which the existence of familial hypercholesterolemia in a first-degree relative should be suspected. To this article, we have attached a sample letter that can be addressed to family members, designed to alert them on this disease and facilitate the work-up of their general practitioners.

What is already known about the topic?

• Familial hypercholesterolemia is a genetic disease that is complicated by the occurrence of early cardiovascular disease.

• Nevertheless, this condition is often under-diagnosed or diagnosed too late to enable early treatment designed to reduce the risk of cardiovascular complications.

What does this article bring up for us?

• The diagnosis of familial hypercholesterolemia relies on using the DLCN (Dutch Lipid Clinic Network) score

• Once the diagnosis has been established in a patient, who is being referred to as "index-patient,", a highly effective strategy consists in searching for the disease in first-degree relatives, using a table of age- and gender-related LDL cholesterol thresholds, as presented in this publication.

• Such a "cascade" strategy, from first-degree to first-degree screening and so on, has proven able to quickly identify the disease in many people, with children included, whose diagnosis was previously unknown.

• For family screening, it is essential to encourage the index patient to contact family members. For this purpose, we have attached a sample letter that can be sent by the patient himself to the family members in order to draw their attention and facilitate the work-up of practitioners.

Key Words

Hypercholesterolemia, genetic disease, screening, cardiovascular prevention, lipid-lowering drugs