Peretti N.: Familial Hypercholesterolaemia
Hello, and welcome to another ESPGHAN podcast!
Let’s start by asking if you know a particular German idiom: What does "Leben wie Gott in Frankreich" mean? Literally, "to live like God in France"—but the French themselves describe those deliciously well set up as comme un coq en pâte, a rooster in dough... go figure.
Living like God in France, as anyone knows who has eaten at a French table, can be improved, however, with one substitution: Leben wie Gott in Lyon.
Yes, Lyon. This city, once named Lugdunum, was the capital of omnia Gallia (all three parts!). She has happily ceded that rôle to Paris. Instead, she enjoys the status of the capital of French cooking, and thus of gastronomy worldwide. Our guest today can vouch for the truth of this, as he lives in Lyon, where he is, very appropriately, a professor of both paediatrics and nutrition: Dr Noël Peretti.
Prof Peretti clinically addresses many aspects of paediatric nutrition and malnutrition, but his research concentrates on lipids and their handling—only natural in Lyon. In Lyon, where, as in Hungary, many recipes begin, "Take something that used to be a pig," in Lyon, home of the celebration of the lardon that is the salade Lyonnaise... But revenons à nos moutons, or rather à nos porcs.
Lipids, and their handling, and its disorders: Prof Peretti has chosen for discussion an article by Wiegman et al., from the European Heart Journal—"Familial Hypercholesterolaemia in Children and Adolescents: A European Atherosclerosis Society Consensus Statement." Let’s begin by defining the problem.
One in 300 of us has familial hypercholesterolaemia (FH)—yes, that many, counting heterozygotes; biallelic FH affects perhaps one in 300,000. Overall, perhaps 500,000 children in Europe have FH. Biallelic FH can manifest with fatal atherosclerosis in adolescence or childhood. Heterozygous FH speeds the progression of atherosclerosis somewhat, but less severely. The challenge for public health is to achieve diagnosis of FH, with intervention, in childhood; of those 500,000 European children, fewer than 50,000 (10%) are identified.
Guidelines for diagnosis and for intervention were published in 2015. Those diagnostic criteria accurately identified FH—but in too few children. In the years since those guidelines appeared, understanding of FH and choices among therapies have increased, as has the weight given to chronic hyperlipidaemia. Algorithms for diagnosis and for treatment thus have been revisited. The work by Wiegman et al. presents state-of-the-art recommendations for FH, which Prof Peretti helped to formulate and which he sets out now for ESPGHAN listeners.
Literature
Wiegman A et al. Familial Hypercholesterolaemia in Children and Adolescents: A European Atherosclerosis Society Consensus Statement. Eur Heart J. 2026 May 25:ehag382. doi: 10.1093/eurheartj/ehag382. Online ahead of print. PMID: 42179051.
Prof. Peretti´s favourite song: Le Poinçonneur des Lilas – Serge Gainsbourg
ESPGHAN favourite Songs can be found on Spotify: https://open.spotify.com/playlist/0YIHKjxITLEm9XNyHyypTo