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Berlin The Institute for Quality and Efficiency in Health Care (IQWIG) sees no benefit in a general screening for familial hypercholesterolemia (FH) in children and adolescents, but recommends a cascade-based examination. The institute announced this in a statement today.

According to the IQWiG, the cascade screening should only examine children and adolescents whose family members have already been diagnosed with FH. The federal government’s Healthy Heart Act, for which the Federal Ministry of Health (BMG) presented a draft bill in June, currently provides for screening of all children and adolescents for FH.

Back in February of this year, the Federal Joint Committee (G-BA) commissioned the IQWIG to examine the current evidence on screening for FH in children and adolescents. The fact that the ministry did not wait for the report and that the self-administration was not involved had already led to much criticism in recent weeks.

The recommended cascade screening should be carried out by family members, especially parents, who have been diagnosed with familial hypercholesterolemia after a cardiovascular event or during health examinations. The advantage of cascade screening is that severe subtypes of FH are diagnosed, according to IQWiG.

The institute argues that people whose family members are affected by particularly early or particularly severe symptoms are more likely to receive medical care and are therefore more likely to be able to undergo cascade screening without an additional invitation.

Early initiation of therapy advocated

In principle, it makes sense to identify children and young people with FH at an early stage and to treat them with statins. On this point, the current report agrees with the Heart Act.

According to the IQWIG, a study published in 2019 by Luirink et al. (NEJM; DOI: 10.1056/NEJMoa1816454). In this study, adolescents with FH were already treated with medication at an average age of 14 years.

In a follow-up after 20 years, a significantly lower rate of cardiovascular events was observed compared to parents who also had FH but had not received early therapy.

Amsterdam People with familial hypercholesterolemia, which is caused by autosomal dominant inherited disorders in LDL metabolism, are advised to start treatment for the significantly elevated cholesterol levels in childhood. A long-term observation from the Netherlands in the New England Journal of Medicine (381: 1547-1556) shows that the treatment protects patients from […]

It is noteworthy that despite statin treatment, the children did not reach the LDL cholesterol target values ​​recommended in some guidelines and yet remained free of cardiovascular events, said Stefan Sauerland, head of the IQWiG Non-Medicinal Procedures Department.

Thus, the results of the Luirink study do not support the lower-the-better approach that is sometimes advocated for the treatment of children and adolescents, but suggest that a fixed average dose of a statin is sufficient as standard therapy for cardiovascular protection.

However, it should be borne in mind that the results of the Luirink study cannot be extrapolated to the entire population of children and adolescents with familial hypercholesterolemia without additional evidence, says Sauerland.

The study participants are already a selected group: they are children who were identified through cascade screening and a significant proportion of whose parents have already had a cardiovascular event.

IQWIG fears many false negative findings

According to IQWiG, there is currently insufficient data to support general screening of children. Based on the available analyses, the institute assumes that a large number of children with FH would remain undetected despite screening.

With a cutoff value of LDL cholesterol > 164 mg/dl, the sensitivity of the screening is 66.7 percent, as shown by a study published in 2016 and 2017 (NEJM 2016; DOI: 10.1056/NEJMoa1602777; Atherosclerosis 2017; DOI: 10.1016/j.atherosclerosis.2017.03.007).

Two studies are currently underway in Germany to test screening for FH in children and adolescents. However, the IQWIG does not expect any new findings on test quality from either the VRONI study in Bavaria or the Fr1dolin study in Lower Saxony and Hamburg, as children with negative test results would not be followed up. © mim/aerzteblatt.de