Laura D'Erasmo, Italy
Sapienza University or Rome Internal Medicine and Medical Specialties
Presenter of 3 Presentations
Lomitapide effectiveness and tolerability in patients with homozygous familial hypercholesterolaemia – updated data from an Italian cohort
Session Type
Industry Sponsored Session
Date
07.10.2020, Wednesday
Session Time
13:15 - 14:00
Lecture Time
13:28 - 13:43
[{"name":"Lomitapide effectiveness and tolerability in patients with homozygous familial hypercholesterolaemia \u2013 updated data from an Italian cohort","mode":"playlist","public":true,"info":{"id":1759,"presentation":"Lomitapide effectiveness and tolerability in patients with homozygous familial hypercholesterolaemia \u2013 updated data from an Italian cohort","session":"Not included in the main CME-CPD of the event","presenter":"Laura D'Erasmo, Italy","photo":""},"playlist":[{"name":"Laura DErasmo - EAS20 - 1759 - Lomitapide effectiveness and tolerability in patients with homozygous","source":"https:\/\/s3.eu-central-1.amazonaws.com\/eu-cslide-prod-recordings\/eas20\/165\/Laura DErasmo - EAS20 - 1759 - Lomitapide effectiveness and tolerability in patients with homozygous familial hypercholesterolaemia-EDITED-FINAL.mp4","source_path":"s3:\/\/eu-cslide-prod-recordings\/eas20\/165\/Laura DErasmo - EAS20 - 1759 - Lomitapide effectiveness and tolerability in patients with homozygous familial hypercholesterolaemia-EDITED-FINAL.mp4","cover":"https:\/\/s3.eu-central-1.amazonaws.com\/eu-cslide-prod-recordings\/eas20\/165\/45E0DF51.jpg","data":[],"tracks":[]}]}]
{"provider":"CTI","provider_live":0,"type":1,"code":"aE22Xi0wk"}
[session]
[presentation]
[presenter]
Q&A
Session Type
Industry Sponsored Session
Date
07.10.2020, Wednesday
Session Time
13:15 - 14:00
Lecture Time
13:53 - 14:00
[{"name":"Q&A","mode":"playlist","public":true,"info":{"id":1761,"presentation":"Q&A","session":"Not included in the main CME-CPD of the event","presenter":"Marcello Arca, Italy, Mary McGowan, United States of America, Laura D'Erasmo, Italy, Dominique Larrey, France","photo":""},"playlist":[{"name":"","source":"https:\/\/s3.eu-central-1.amazonaws.com\/eu-cslide-prod-recordings\/eas20\/165\/The Changing Face of HoFH.mp4","source_path":"s3:\/\/eu-cslide-prod-recordings\/eas20\/165\/The Changing Face of HoFH.mp4","cover":"https:\/\/s3.eu-central-1.amazonaws.com\/eu-cslide-prod-recordings\/eas20\/165\/2A2A6EAF.jpg","data":[],"tracks":[]}]}]
{"provider":"CTI","provider_live":0,"type":1,"code":"7E22Xi0wn"}
[session]
[presentation]
[presenter]
The impact of ANGPTL3 deficiency on hepatic steatosis: observations from carriers of loss-of-function mutations
Session Type
Track 2 - Metabolism of Lipids and Lipoproteins
Date
07.10.2020, Wednesday
Session Time
10:00 - 11:13
Lecture Time
10:40 - 10:50
Background and Aims
Loss-of-function (LOF) mutations in ANGPTL3 cause familial combined hypolipidemia (FHBL2) characterized by very low levels of all three major lipoprotein fractions (LDL-C, TGs and HDL-C). Targeting ANGPTL3 has emerged as a new therapeutic opportunity to lower two causal risk factors (LDL-C and TG) for coronary heart disease (CHD) with potentially favorable metabolic effects. It is unknown, however, if inhibiting ANGPTL3 will result in adverse consequences. The aim of this study was to evaluate if genetic loss of ANGPTL3 leads to hepatic fat accumulation.
Methods
We studied individuals carrying LOF mutations in ANGPTL3 resulting in complete (N=6) or partial (N=28) ANGPTL3 deficiency along with 76 wild-type controls. Magnetic resonance spectroscopy (MRS) and chemical shift magnetic resonance imaging (csMRI) were used to quantify hepatic triglyceride content in ANGPTL3 LOF carriers and non-carriers.
Results
The mean hepatic fat fraction (HFF) measured by MRS was not significantly different in ANGPTL3 LOF mutation carriers as compared with non-carrier controls [8.1%±13.3% (IQR 0.1%-9.2%) vs. 11.9%±16.3% (IQR 0.1%-21.6%), respectively, P=NS]. Similar results were found by csMRI [5.6%±3.8% (IQR 2.6%-7.1%) vs. 7.3%±6.2% (IQR 2.7%-9.7%), respectively, P=NS]. In a multivariate model including ANGPTL3 genotype, age, gender, triglycerides, BMI and HOMA-IR, we found that only BMI and HOMA-IR were independently associated with increased HFF.
Conclusions
Unlike other genetic causes of hypolipidemia, ANGPTL3 deficiency does not appear to cause hepatic fat accumulation. This suggests that pharmacological inhibition of ANGPTL3 may not be associated with an increased risk of fatty liver disease.
[{"name":"The impact of ANGPTL3 deficiency on hepatic steatosis: observations from carriers of loss-of-function mutations","mode":"playlist","public":true,"info":{"id":1139,"presentation":"The impact of ANGPTL3 deficiency on hepatic steatosis: observations from carriers of loss-of-function mutations","session":"Metabolic control of fat storage and combustion","presenter":"Laura D'Erasmo, Italy","photo":""},"playlist":[{"name":"Laura DErasmo - EAS20 - 1139 - The impact of ANGPTL3 deficiency on hepatic steatosis","source":"https:\/\/s3.eu-central-1.amazonaws.com\/eu-cslide-prod-recordings\/eas20\/27\/Laura DErasmo - EAS20 - 1139 - The impact of ANGPTL3 deficiency on hepatic steatosis.mp4","source_path":"s3:\/\/eu-cslide-prod-recordings\/eas20\/27\/Laura DErasmo - EAS20 - 1139 - The impact of ANGPTL3 deficiency on hepatic steatosis.mp4","cover":"https:\/\/s3.eu-central-1.amazonaws.com\/eu-cslide-prod-recordings\/eas20\/27\/FFB9142A.jpg","data":[],"tracks":[]}]}]
{"provider":"CTI","provider_live":0,"type":1,"code":"aE22Xi0kD"}
[session]
[presentation]
[presenter]
