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2. Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Author

Ayoub, Carine, Azar, Yara, Maddah, Dina, Ghaleb, Youmna, Elbitar, Sandy, Abou-Khalil, Yara, Jambart, Selim, Varret, Mathilde, Boileau, Catherine, Khoury, Petra El, and Abifadel, Marianne

Subjects
SYRIAN refugees, REFUGEE families, LDL cholesterol, SYNDROMES in children, GENETIC variation, RISK perception
Abstract

Familial chylomicronemia syndrome is a rare autosomal recessive disorder of lipoprotein metabolism characterized by the presence of chylomicrons in fasting plasma and an important increase in plasma triglycerides (TG) levels that can exceed 22.58 mmol/l. The disease is associated with recurrent episodes of abdominal pain and pancreatitis, eruptive cutaneous xanthomatosis, lipemia retinalis, and hepatosplenomegaly. A consanguineous Syrian family who migrated to Lebanon was referred to our laboratory after perceiving familial chylomicronemia syndrome in two children. The LPL and PCSK9 genes were sequenced and plasma PCSK9 levels were measured. Sanger sequencing of the LPL gene revealed the presence of the p.(Val227Phe) pathogenic variant in exon 5 at the homozygous state in the two affected children, and at the heterozygous state in the other recruited family members. Interestingly, PCSK9 levels in homozygous carriers of the p.(Val227Phe) were >50% lower than those in heterozygous carriers of the variant (p-value = 0.13) and ranged between the 5th and the 7.5th percentile of PCSK9 levels in a sample of Lebanese children of approximately the same age group. Moreover, this is the first reported case of individuals carrying simultaneously an LPL pathogenic variant and PCSK9 variants, the L10 and L11 leucine insertion, which can lower and raise low-density lipoprotein cholesterol (LDL-C) levels respectively. TG levels fluctuated concomitantly between the two children, were especially high following the migration from a country to another, and were reduced under a low-fat diet. This case is crucial to raise public awareness on the risks of consanguineous marriages to decrease the emergence of inherited autosomal recessive diseases. It also highlights the importance of the early diagnosis and management of these diseases to prevent serious complications, such as recurrent pancreatitis in the case of familial hyperchylomicronemia. [ABSTRACT FROM AUTHOR]

Published
2022
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3. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Author

Vallejo-Vaz, Antonio J., Marco, Martina De, Stevens, Christophe A. T., Akram, Asif, Freiberger, Tomas, Hovingh, G. Kees, Kastelein, John J. P., Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Al-Khnifsawi, Mutaz, Alkindi, Fahad A., Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Ashavaid, Tester F., Binder, Christoph J., Bogsrud, Martin P., Bourbon, Mafalda, Bruckert, Eric, Chlebus, Krzysztof, Corral, Pablo, Descamps, Olivier, Durst, Ronen, Ezhov, Marat, Fras, Zlatko, Genest, Jacques, Groselj, Urh, Harada-Shiba, Mariko, Kayikcioglu, Meral, Lalic, Katarina, Lam, Carolyn S. P., Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lin, Jie, Maher, Vincent, Majano, Nelson, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah M., Nordestgaard, B. rge G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Sadoh, Wilson E., Sahebkar, Amirhossein, Shehab, Abdullah, Shek, Aleksander B., Stoll, Mario, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Symeonides, Phivos, Tilney, Myra, Tomlinson, Brian, Truong, Thanh-Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez-Cárdenas, Alejandra, Viigimaa, Margus, Vohnout, Branislav, Widén, Elisabeth, Yamashita, Shizuya, Banach, Maciej, Gaita, Dan, Jiang, Lixin, Nilsson, Lennart, Santos, Lourdes E., Schunkert, Heribert, Tokgözoğlu, Lale, Car, Josip, Catapano, Alberico L., Ray, Kausik K., Schreier, Laura, Pang, Jing, Dieplinger, Hans, Hanauer-Mader, Gabriele, Desutter, Johan, Langlois, Michel, Mertens, Ann, Rietzschel, Ernst, Wallemacq, Caroline, Isakovic, Dzenana, Dzankovic, Amra M., Obralija, Jasna, Pojskic, Lamija, Sisic, Ibrahim, Stimjanin, Ena, Torlak, Vildana A., Jannes, Cinthia E., Krieger, Jose E., Pereira, Alexandre C., Ruel, Isabelle, Asenjo, Sylvia, Cuevas, Ada, Pećin, Ivan, Miltiadous, George, Panayiotou, Andrie G., Vrablik, Michal, Benn, Marianne, Heinsar, Silver, Béliard, S., Gouni-Berthold, Ioanna, Hengstenberg, Wibke, Julius, Ulrich, Kassner, Ursula, Klose, Gerald, König, Christel, König, Wolfgang, Otte, Britta, Parhofer, Klaus, Schatz, Ulrike, Schmidt, Nina, Steinhagen-Thiessen, Elisabeth, Vogt, Anja, Antza, Christina, Athyros, Vasilios, Bilianou, Eleni, Boufidou, Amalia, Chrousos, George, Elisaf, Moses, Garoufi, Anastasia, Katsiki, Niki, Kolovou, Genovefa, Kotsis, Vasilios, Rallidis, Loukianos, Rizos, Christos, Skalidis, Emmanouel, Skoumas, Ioannis, Tziomalos, Kostantinos, Shawney, J. P. S., Abbaszadegan, Mohammad R., Aminzadeh, Majid, Hosseini, Sousan, Mobini, Moein, Vakili, Rahim, Zaeri, Hossein, Agar, Ruth, Boran, Gerard, Colwell, Nial, Crowley, Vivion, Durkin, Maeve, Griffin, Damian, Kelly, Michael, Rakovac-Tisdall, Ana, Bitzur, Rafael, Cohen, Hofit, Eliav, Osnat, Ellis, Avishay, Gavish, Dov, Harats, Dror, Henkin, Yaacov, Knobler, Hila, Leavit, Leah, Leitersdorf, Eran, Rubinstein, Ardon, Schurr, Daniel, Shpitzen, Shoshi, Szalat, Auryan, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Erglis, Andrejs, Gilis, Dainus, Nesterovics, Georgijs, Saripo, Vita, Upena-Roze, Arta, Elbitar, Sandy, Jambart, S. lim, Khoury, Petra El, Gargalskaite, Urte, Kutkiene, Sandra, Al-Khateeb, Alyaa, An, Chua Y., Ismail, Zaliha, Kasim, Sazzli, Ibrahim, Khairul S., Radzi, Ahmad B. M., Kasim, Noor A., Nor, Noor S. M., Ramli, Anis S., Razak, Suraya A., Muid, Suhaila, Rosman, Azhari, Sanusi, Abd R., Razman, Aimi Z., Nazli, Sukma A., Kek, Teh L., Azzopardi, Conrad, Aguilar Salinas, Carlos A., Vázquez-Cárdenas, N. Alejandra, Galán, Gabriela, Magaña-Torres, M. T., Martagon, Alexandro, Mehta, Roopa, Wittekoek, M. E., Isara, Alphonsus R., Obaseki, Darlington E., Ohenhen, Oluwatoyin A., Holven, Kirsten B., Gruchała, Marcin, Baranowska, Marlena, Borowiec-Wolny, Justyna, Gilis-Malinowska, Natasza, Michalska-Grzonkowska, Aleksandra, Pajkowski, Marcin, Parczewska, Aleksandra, Romanowska-Kocejko, Marzena, Stróżyk, Aneta, Żarczyńska-Buchowiecka, Marta, Kleinschmidt, Mariola, Alves, Ana C., Medeiros, Ana M., Ershova, Alexandra, Korneva, Victoria, Kuznetsova, Tatiana, Malyshev, Pavel, Meshkov, Alexey, Rozhkova, Tatiana, Rajkovic, Natasa, Popovic, Ljiljana, Lukac, Sandra S., Stosic, Ljubica, Rasulic, Iva, Lalic, Nebojsa M., Chua, Terrance S. J., Ting, Sharon P. L., Raslova, Katarina, Battelino, Tadej, Cevc, Matija, Jug, Borut, Kovac, Jernej, Podkrajsek, Katarina T., Sustar, Ursa, Trontelj, Katja J., Marais, David, Isla, Leopoldo Perez de, Martin, François J., Charng, Ming-Ji, Chen, Pei-Lung, Kayikçioglu, Meral, Dell’oca, Nicolás, Fernández, Graciela, Ressia, Andrés, Reyes, Ximena, Zelarayan, Mario, Alieva, Rano B., Hoshimov, Shavkat U., Kurbanov, Ravshanbek D., Nizamov, Ulugbek I., Lima-Martínez, Marcos M., Nguyen, Mai-Ngoc Thi, Do, Doan-Loi, Kim, Ngoc-Thanh, le, Hong-An, le, Thanh-Tung, Centre of Excellence in Complex Disease Genetics, Elisabeth Ingrid Maria Widen / Principal Investigator, Institute for Molecular Medicine Finland, University of Helsinki, Genomic Discoveries and Clinical Translation, Kardiyoloji, Lee Kong Chian School of Medicine (LKCMedicine), Pfizer Incorporated, European Atherosclerosis Society, ACS - Atherosclerosis & ischemic syndromes, Vascular Medicine, ACS - Pulmonary hypertension & thrombosis, and Ege Üniversitesi

Subjects
International Cooperation, MÉTODOS EPIDEMIOLÓGICOS, 030204 cardiovascular system & hematology, Nationwide survey, Global Health, Health Services Accessibility, Doenças Cardio e Cérebro-vasculares, MOLECULAR-GENETICS, 0302 clinical medicine, Risk Factors, Prevalence, CARDIOVASCULAR RISK-FACTORS, 030212 general & internal medicine, Cooperative Behavior, DEFECTIVE APOLIPOPROTEIN B-100, GENERAL-POPULATION, education.field_of_study, medicine.diagnostic_test, Anticholesteremic Agents, Familial hypercholesterolaemia, FHSC, Primary dyslipidaemia, Biomarkers, Cholesterol, LDL, Genetic Predisposition to Disease, Health Care Surveys, Healthcare Disparities, Humans, Hyperlipoproteinemia Type II, Phenotype, Predictive Value of Tests, Treatment Outcome, Blood Component Removal, EAS Familial Hypercholesterolaemia Studies Collaboration, 3. Good health, PREVALENCE, Cholesterol, CORONARY-ARTERY-DISEASE, NATIONWIDE SURVEY, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Cardiovascular risk factors, Population, LDL-RECEPTOR, 1102 Cardiovascular Medicine And Haematology, LDL, 03 medical and health sciences, medicine, Medicine [Science], fhsc, familial hypercholesterolaemia, primary dyslipidaemia, education, Genetic testing, Government, Public health, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators, SAFEHEART REGISTRY, 1103 Clinical Sciences, Cardiovascular System & Hematology, Family medicine, 3121 General medicine, internal medicine and other clinical medicine, Cardiovascular System & Cardiology, Business, FOLLOW-UP
Abstract

PubMed: 30270054, 2-s2.0-85053666909, Background and aims: Management of familial hypercholesterolaemia (FH) may vary across different settings due to factors related to population characteristics, practice, resources and/or policies. We conducted a survey among the worldwide network of EAS FHSC Lead Investigators to provide an overview of FH status in different countries. Methods: Lead Investigators from countries formally involved in the EAS FHSC by mid-May 2018 were invited to provide a brief report on FH status in their countries, including available information, programmes, initiatives, and management. Results: 63 countries provided reports. Data on FH prevalence are lacking in most countries. Where available, data tend to align with recent estimates, suggesting a higher frequency than that traditionally considered. Low rates of FH detection are reported across all regions. National registries and education programmes to improve FH awareness/knowledge are a recognised priority, but funding is often lacking. In most countries, diagnosis primarily relies on the Dutch Lipid Clinics Network criteria. Although available in many countries, genetic testing is not widely implemented (frequent cost issues). There are only a few national official government programmes for FH. Under-treatment is an issue. FH therapy is not universally reimbursed. PCSK9-inhibitors are available in ?2/3 countries. Lipoprotein-apheresis is offered in ?60% countries, although access is limited. Conclusions: FH is a recognised public health concern. Management varies widely across countries, with overall suboptimal identification and under-treatment. Efforts and initiatives to improve FH knowledge and management are underway, including development of national registries, but support, particularly from health authorities, and better funding are greatly needed. © 2018 Elsevier B.V., Universidade de São Paulo, USP European Atherosclerosis Society, EAS Amgen Merck Sharp and Dohme, MSD, The ELSA Study suggests heterozygous FH (HeFH) may affect 1:263 Brazilians (?766,000 individuals). Currently, the only active genetic cascade screening program in Brazil is Hipercol Brasil in Sao Paulo (genetic testing for adults with low-density lipoprotein cholesterol (LDL-C) ?230?mg/dL, to maximise cost-effectiveness), with 1719 heterozygotes, 25 homozygotes, 13 compound-heterozygotes and one double-heterozygote identified by March 2018. To date, 4340 individuals from 440 families were screened. Genetic testing is funded by a government tax reduction programme (PROADI-SUS), and cascade screening by partnering between Samaritano Hospital and Heart Institute (InCor) University of Sao Paulo. Most FH patients are under non-specialist care and currently under-treated., Prevalence is unknown but assumed at 1:250. There is no state programme and few patients were diagnosed before the Latvian FH Registry was established in 2015. To date, the Registry has identified 181 cases (2.3% of 7876 estimated HeFH cases; no HoFH). Cascade screening is performed in first-degree relatives of index cases with probable/definite FH. Genetic testing is not reimbursed but has been funded by research grants for a few patients/relatives. About 5% of patients had LDL-C at target before inclusion in the Registry [ 61 ]. Statins are reimbursed 50% in primary prevention; statins and ezetimibe, 75–100% in secondary prevention; PCSK9i are available, but not reimbursed., Estimated prevalence is 1:250 (based on a meta-analysis of 6 observational studies) or 136,300 adults (only 2% diagnosed) [ 69 , 70 ]. Based on LIPIDOGRAM studies (2004–2015, ?50,000 participants), prevalence might be?1:200 [ 71 , 72 ]. Five HoFH cases are described [ 73 , 74 ]. Patients with DLCN ?3 are referred for genetic testing, funded by the National Health Program. The National Centre for FH at University Clinical Hospital, Medical University of Gdansk, was established in 2017, financed by the Ministry of Health. From August 2017, 345 patients underwent genetic testing (153 positive, including 46 relatives; 1 HoFH). Since 1999, 1884 patients (562 families) have undergone genetic testing and cascade diagnosis (data from the National Polish FH Registry, Medical University of Gdansk, established in 2000). PCSK9i are not reimbursed (under discussion with the Ministry of Health)., The EAS FHSC project has received support from a Pfizer Independent Grant for Learning & Change 2014 (No: 16157823 ) and from investigator-initiated unrestricted research grants to the European Atherosclerosis Society from Amgen , MSD , and Sanofi-Aventis .

Published
2018

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