ESPEYB20 10. Type 2 Diabetes, Metabolic Syndrome and Lipid Metabolism Dyslipidemia (4 abstracts)
10.11. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance
Cuchel M , Raal FJ , Hegele RA , Al-Rasadi K , Arca M , Averna M , Bruckert E , Freiberger T , Gaudet D , Harada-Shiba M , Hudgins LC , Kayikcioglu M , Masana L , Parhofer KG , Roeters van Lennep JE , Santos RD , Stroes ESG , Watts GF , Wiegman A , Stock JK , Tokgözoğlu LS , Catapano AL & Ray KK
Eur Heart J. 2023 May 2:ehad197. doi: 10.1093/eurheartj/ehad197
Brief summary: In May 2023, the European Atherosclerosis Society (EAS) released an update to its 2014 consensus on homozygous familial hypercholesterolemia (HoFH). The 2023 statement provides updated diagnostic criteria, screening recommendations, treatment algorithms, guidance about family planning, and new insights into the genetics of the disease.
Comment: Here is a brief summary of the new findings and recommendations of the updated consensus:
Diagnosis, the updated criteria for HoFH are a LDL-C level >13 mmol/L while untreated, or >8 mmol/L on standard medication. Additional criteria are cutaneous or tendon xanthomas before age 10 years and LDL-C levels consistent with heterozygous FH in both parents. Physicians should exclude other conditions that might elevate LDL-C.
Prevalence: While historically thought to affect one in a million, new research indicates that HoFH prevalence is likely higher, as many as one in 160 000 to 300 000.
Screening: The current guidelines recommend cholesterol screening in children at age ≤2 years who have a positive family history of premature atherosclerotic vascular disease or hypercholesterolemia; and universal screening before puberty, at age 5 to 11 years.
Treatment: Lifestyle and maximal dose statin therapy are the mainstays of treatment, and should be started in the first year of life or at initial diagnosis. Patients should start on a high-intensity statin plus ezetimibe, rather than statin monotherapy. Within 8 weeks, proprotein convertase subtilisin/kexin type 9 (PCSK9)-directed therapy should be added. LDL-C should be assessed after 1–2 doses. If there is no response, other treatments should be considered.
Lomitapide is an oral inhibitor of the microsomal triglyceride transfer protein, which affects the production of very low-density lipoproteins, the precursor of LDL-C. In real-world practice, lomitapide added to standard of care treatment reduced plasma LDL-C levels by 60%, albeit with a moderate increase in hepatic fat and hepatic steatosis. Evinacumab is a monoclonal antibody targeting angiopoietin-like protein 3 (ANGPTL3), which is licensed for patients with HoFH aged 12 years or older. The ELIPSE HoFH trial reported that evinacumab (15 mg/kg IV every 4 weeks) reduced LDL-C by ~50%, when given in addition to maximally tolerated standard therapy
Follow-up: Given the extremely high risk of early onset severe atherosclerotic vascular disease and its rapid progression, regular screening for subclinical aortic and coronary heart disease is essential. Echocardiography and low-dose computed tomography (CT) angiography are recommended to identify disease burden, with particular emphasis on high-risk lesions in the coronary ostia. Low-dose CT is preferable to detect subclinical coronary and aortic root atherosclerosis.
Volume 20
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ESPE Yearbook of Paediatric Endocrinology
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