Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

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The 24th European Congress of Endocrinology (ECE) and the Italian Society of Endocrinology look forward to welcoming you to Milan. ECE 2022 returns for a four day, six parallel session festival of endocrine science. You can join us In person in Milan, Italy OR Live @Home online!

Joint Sessions

ESE-SBEM, FASEN and SMNE Joint Session: New horizons in rare diseases

ea0081js3.1 | ESE-SBEM, FASEN and SMNE Joint Session: New horizons in rare diseases | ECE2022

Is familial hypercholesterolemia an underdiagnosed and undertreated disease?

Nogueira Juan Patricio

Familial Hypercholesterolemia (FH) is a monogenic disease, associated with variants in the LDLR, APOB, and PCSK9 genes. The initial diagnosis is based on clinical criteria like the DLCN criteria. A score > 8 points qualifies the patient as "definite" for the diagnosis of FH. It is characterized by lifelong elevations in plasma low-density lipoprotein cholesterol (LDL-C) levels and premature coronary heart disease (CHD). FH is an underdiagnosed and undertreated gene...