Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing

This article belongs to the Special Issue New Possibilities for the Treatment of DyslipidemiasBackground: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of FH (LRFH). Methods: Whole genome sequencing with 30 coverage was performed in unrelated index cases from the LRFH and the Genome Database of Latvian Population. LDLR, APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, LIPA, LPA, CYP27A1, and APOE genes were analyzed. Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation Expert Panel guidelines for LDLR and adaptations for APOB and PCSK9 were reported. Results: Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 1.60 mmol/L, and 79.1% of patients had LDL-cholesterol 6.50 mmol/L. A total of 15 P/LP variants were found in 34 patients (diagnostic yield: 20.9%): 14 in the LDLR gene and 1 in the APOB gene. Additionally, 24, 54, and 13 VUS were detected in LDLR, APOB, and PCSK9, respectively. No P/LP variants were identified in the other tested genes. Conclusions: Despite the high clinical likelihood of FH, confirmed P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with genome-wide next generation sequencing.This research is funded by the Latvian Council of Science, project “Low-coverage whole-genome sequencing analysis of polygenic mechanisms of high cholesterol levels in patients with clinically diagnosed or possible familial hypercholesterolemia”, project No. lzp-2020/1-0151.info:eu-repo/semantics/publishedVersio

ESPRAS Survey: National and European Societies for Plastic Surgeons ESPRAS Umfrage: Nationale und europ ische Gesellschaften f r Plastische Chirurgie

Background The European Society of Plastic, Reconstructive and Aesthetic Surgery (ESPRAS) comprises 40 national societies across Europe. In addition to ESPRAS, there are 8 different European Plastic Surgery societies representing Plastic Surgeons in Europe. The 4 thEuropean Leadership Forum (ELF) of ESPRAS, held under the motto Stronger together in Europe in Munich in 2023, aimed to collect and disseminate information regarding the national member societies of ESPRAS and European societies for Plastic Surgeons. The purpose was to identify synergies and redundancies and promote improved cooperation and exchange to enhance coordinated decision-making at the European level. Material and methods An online survey was conducted regarding the organisational structures, objectives and challenges of national and European societies for Plastic Surgeons in Europe. This survey was distributed to official representatives (Presidents, Vice Presidents and General Secretaries) and delegates of national and European societies at the ELF meeting. Missing information was completed using data obtained from the official websites of the respective European societies. Preliminary results were discussed during the 4 thELF meeting in Munich in March 2023. Results The ESPRAS survey included 22 national and 9 European Plastic Surgery societies representing more than 7000 Plastic Surgeons in Europe. Most national societies consist of less than 500 full members (median 182 members (interquartile range (IQR) 54-400); n=22). European societies, which covered the full spectrum or subspecialities, differed in membership types and congress cycles, with some requiring applications by individuals and others including national societies. The main purposes of the societies include research, representation against other disciplines, specialisation and education as well as more individual goals like patient care and policy regulation. Conclusion This ESPRAS survey offers key insights into the structures, requirements and challenges of national and European societies for Plastic Surgeons, highlighting the relevance of ongoing close exchange between the societies to foster professional advancement and reduce redundancies. Future efforts of the ELF will continue to further explore strategies for enhancing collaboration and harmonisation within the European Plastic Surgery landscape