{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:58:48Z","timestamp":1792155528010,"version":"4.4.0"},"reference-count":37,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"11","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["ATVB"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n            <jats:title>BACKGROUND:<\/jats:title>\n            <jats:p>Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to study the genotype distribution of FCS-causing genes in the United Kingdom, genotype-phenotype correlation, and clinical differences between FCS and multifactorial chylomicronemia syndrome (MCS).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>METHODS:<\/jats:title>\n            <jats:p>The study included 154 patients (FCS, 74; MCS, 80) from the UK FCS national registry and the UK arm of the FCS International Quality Improvement and Service Evaluation Project.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS:<\/jats:title>\n            <jats:p>\n              FCS was relatively common in non-Europeans and those with parental consanguinity (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001 for both).\n              <jats:italic toggle=\"yes\">LPL<\/jats:italic>\n              variants were more common in European patients with FCS (European, 64%; non-European, 46%), while the genotype was more diverse in non-European patients with FCS. Patients with FCS had a higher incidence compared with patients with MCS of acute pancreatitis (84% versus 60%;\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.001), recurrent pancreatitis (92% versus 63%;\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001), unexplained abdominal pain (84% versus 52%;\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001), earlier age of onset (median [interquartile range]) of symptoms (15.0 [5.5\u201326.5] versus 34.0 [25.2\u201341.7] years;\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001), and of acute pancreatitis (24.0 [10.7\u201331.0] versus 33.5 [26.0\u201342.5] years;\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001). Adverse cardiometabolic features and their co-occurrence was more common in individuals with MCS compared with those with FCS (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              &lt;0.001 for each). Atherosclerotic cardiovascular disease was more prevalent in individuals with MCS than those with FCS (\n              <jats:italic toggle=\"yes\">P<\/jats:italic>\n              =0.04). However, this association became nonsignificant after adjusting for age, sex, and body mass index. The prevalence of pancreatic complications and cardiometabolic profile of variant-positive MCS was intermediate between FCS and variant-negative MCS.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSIONS:<\/jats:title>\n            <jats:p>The frequency of gene variant distribution varies based on the ethnic origin of patients with FCS. Patients with FCS are at a higher risk of pancreatic complications while the prevalence of atherosclerotic cardiovascular disease is lower in FCS compared with MCS. Carriers of heterozygous pathogenic variants have an intermediate phenotype between FCS and variant-negative MCS.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/atvbaha.124.320955","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T05:02:06Z","timestamp":1725512526000},"page":"2334-2346","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":23,"title":["Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry"],"prefix":"10.1161","volume":"44","author":[{"given":"Bilal","family":"Bashir","sequence":"first","affiliation":[{"name":"Faculty of Biology Medicine and Health, University of Manchester, United Kingdom (B.B., M.F., P.N.D., H.S.)."},{"name":"Department of Endocrinology, Diabetes and Metabolism, Manchester University NHS Foundation Trust, United Kingdom (B.B., S.K., H.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Downie","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, Bristol Royal Infirmary, United Kingdom (P.D.)."},{"name":"Salisbury NHS Foundation Trust, United Kingdom (P.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0033-7423","authenticated-orcid":true,"given":"Natalie","family":"Forrester","sequence":"additional","affiliation":[{"name":"Bristol Genetics Laboratory, North Bristol NHS Trust, United Kingdom (N.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2756-372X","authenticated-orcid":true,"given":"Anthony S.","family":"Wierzbicki","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine and Chemical Pathology, Guy\u2019s and St. Thomas\u2019 Hospitals, London, United Kingdom (A.S.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9621-6468","authenticated-orcid":true,"given":"Charlotte","family":"Dawson","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, Queen Elizabeth Hospital NHS Foundation Trust, Birmingham, United Kingdom (C.D.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry and Immunology, Heart of England NHS Foundation Trust, Birmingham, United Kingdom (A.J.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Jenkinson","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry and Metabolic Medicine, Royal Victoria Infirmary, Newcastle Upon Tyne, United Kingdom 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Hospital, United Kingdom (Y.T.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6437-9185","authenticated-orcid":true,"given":"Paul","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Centre for Medical Education, Queen\u2019s University Belfast, United Kingdom (P.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7989-8233","authenticated-orcid":true,"given":"Maryam","family":"Ferdousi","sequence":"additional","affiliation":[{"name":"Faculty of Biology Medicine and Health, University of Manchester, United Kingdom (B.B., M.F., P.N.D., H.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"See","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism, Manchester University NHS Foundation Trust, United Kingdom (B.B., S.K., 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