{"id":"https://openalex.org/W4411005489","doi":"https://doi.org/10.7759/cureus.85263","title":"A Case of Diabetes With a Rare Variant of Familial Combined Hyperlipidemia With an Atypical Phenotype","display_name":"A Case of Diabetes With a Rare Variant of Familial Combined Hyperlipidemia With an Atypical Phenotype","publication_year":2025,"publication_date":"2025-06-02","ids":{"openalex":"https://openalex.org/W4411005489","doi":"https://doi.org/10.7759/cureus.85263","pmid":"https://pubmed.ncbi.nlm.nih.gov/40612841","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12225942"},"language":"en","primary_location":{"id":"doi:10.7759/cureus.85263","doi":"https://doi.org/10.7759/cureus.85263","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.85263","pdf_url":"https://www.cureus.com/articles/369301-a-case-of-diabetes-with-a-rare-variant-of-familial-combined-hyperlipidemia-with-an-atypical-phenotype.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.cureus.com/articles/369301-a-case-of-diabetes-with-a-rare-variant-of-familial-combined-hyperlipidemia-with-an-atypical-phenotype.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5042380362","display_name":"Karishma Bhade","orcid":"https://orcid.org/0009-0003-8206-3979","observed_orcids":["https://orcid.org/0009-0003-8206-3979"]},"institutions":[{"id":"https://openalex.org/I4405285943","display_name":"Hirabai Cowasji Jehangir Medical Research Institute","ror":"https://ror.org/00r1fan50","country_code":"IN","type":"nonprofit","lineage":["https://openalex.org/I4405285943"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Karishma Bhade","raw_affiliation_strings":["Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND","institution_ids":["https://openalex.org/I4405285943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072862338","display_name":"Nimisha Shankar Dange","orcid":"https://orcid.org/0009-0001-4895-4896","observed_orcids":["https://orcid.org/0009-0001-4895-4896"]},"institutions":[{"id":"https://openalex.org/I4405285943","display_name":"Hirabai Cowasji Jehangir Medical Research Institute","ror":"https://ror.org/00r1fan50","country_code":"IN","type":"nonprofit","lineage":["https://openalex.org/I4405285943"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Nimisha Dange","raw_affiliation_strings":["Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND","institution_ids":["https://openalex.org/I4405285943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016191259","display_name":"Vaman V Khadilkar","orcid":"https://orcid.org/0000-0001-7719-1341","observed_orcids":["https://orcid.org/0000-0001-7719-1341"]},"institutions":[{"id":"https://openalex.org/I4405285943","display_name":"Hirabai Cowasji Jehangir Medical Research Institute","ror":"https://ror.org/00r1fan50","country_code":"IN","type":"nonprofit","lineage":["https://openalex.org/I4405285943"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Vaman Khadilkar","raw_affiliation_strings":["Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND","institution_ids":["https://openalex.org/I4405285943"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111021441","display_name":"Anuradha Khadilkar","orcid":"https://orcid.org/0000-0001-9832-7033","observed_orcids":["https://orcid.org/0000-0001-9832-7033","https://orcid.org/0000-0002-3399-3235"]},"institutions":[{"id":"https://openalex.org/I4405285943","display_name":"Hirabai Cowasji Jehangir Medical Research Institute","ror":"https://ror.org/00r1fan50","country_code":"IN","type":"nonprofit","lineage":["https://openalex.org/I4405285943"]},{"id":"https://openalex.org/I878213199","display_name":"Savitribai Phule Pune University","ror":"https://ror.org/044g6d731","country_code":"IN","type":"education","lineage":["https://openalex.org/I878213199"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Anuradha Khadilkar","raw_affiliation_strings":["Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND","Health Sciences, Savitribai Phule Pune University, Pune, IND"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Pune, IND","institution_ids":["https://openalex.org/I4405285943"]},{"raw_affiliation_string":"Health Sciences, Savitribai Phule Pune University, Pune, IND","institution_ids":["https://openalex.org/I878213199"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5111021441"],"corresponding_institution_ids":["https://openalex.org/I4405285943","https://openalex.org/I878213199"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"17","issue":"6","first_page":"e85263","last_page":"e85263"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T13430","display_name":"Lipid metabolism and disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10394","display_name":"Lipoproteins and Cardiovascular Health","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10027","display_name":"Diabetes, Cardiovascular Risks, and Lipoproteins","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-combined-hyperlipidemia","display_name":"familial combined hyperlipidemia","score":0.9940000176429749},{"id":"https://openalex.org/keywords/lipodystrophy","display_name":"lipodystrophy","score":0.9729999899864197},{"id":"https://openalex.org/keywords/lpl-gene-mutations","display_name":"LPL gene mutations","score":0.8600000143051147},{"id":"https://openalex.org/keywords/diabetes-mellitus","display_name":"diabetes mellitus","score":0.7289999723434448},{"id":"https://openalex.org/keywords/dyslipidemia","display_name":"dyslipidemia","score":0.8840000033378601},{"id":"https://openalex.org/keywords/hypercholesterolemia","display_name":"hypercholesterolemia","score":0.9390000104904175},{"id":"https://openalex.org/keywords/hypertriglyceridemia","display_name":"hypertriglyceridemia","score":1.0},{"id":"https://openalex.org/keywords/heterozygous-variants","display_name":"heterozygous mutation","score":0.7250000238418579},{"id":"https://openalex.org/keywords/statin-therapy","display_name":"statin therapy","score":0.531000018119812},{"id":"https://openalex.org/keywords/insulin-therapy","display_name":"insulin therapy","score":0.5059999823570251}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9672499895095825},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7571487426757812},{"id":"https://openalex.org/C2779091943","wikidata":"https://www.wikidata.org/wiki/Q1079120","display_name":"Hyperlipidemia","level":3,"score":0.7482019662857056},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.6321102976799011},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3567586839199066},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3538171052932739},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3415582776069641},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.21468597650527954},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19044449925422668},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.7759/cureus.85263","doi":"https://doi.org/10.7759/cureus.85263","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.85263","pdf_url":"https://www.cureus.com/articles/369301-a-case-of-diabetes-with-a-rare-variant-of-familial-combined-hyperlipidemia-with-an-atypical-phenotype.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},{"id":"pmid:40612841","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40612841","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:12225942","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12225942/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.7759/cureus.85263","doi":"https://doi.org/10.7759/cureus.85263","is_oa":true,"landing_page_url":"https://doi.org/10.7759/cureus.85263","pdf_url":"https://www.cureus.com/articles/369301-a-case-of-diabetes-with-a-rare-variant-of-familial-combined-hyperlipidemia-with-an-atypical-phenotype.pdf","source":{"id":"https://openalex.org/S2738950867","display_name":"Cureus","issn_l":"2168-8184","issn":["2168-8184"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310316779","host_organization_name":"Cureus, Inc.","host_organization_lineage":["https://openalex.org/P4310316779"],"host_organization_lineage_names":["Cureus, Inc."],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cureus","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4411005489.pdf","grobid_xml":"https://content.openalex.org/works/W4411005489.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W80412147","https://openalex.org/W1970413157","https://openalex.org/W2008363902","https://openalex.org/W2012354624","https://openalex.org/W2021365028","https://openalex.org/W2038125044","https://openalex.org/W2073609009","https://openalex.org/W2143944818","https://openalex.org/W2324387122","https://openalex.org/W2325274793","https://openalex.org/W2771527063","https://openalex.org/W2904028155","https://openalex.org/W3199999032","https://openalex.org/W4200489650","https://openalex.org/W4307827213"],"related_works":["https://openalex.org/W2030979498","https://openalex.org/W7155595460","https://openalex.org/W4400964080","https://openalex.org/W2944561572","https://openalex.org/W4396719751","https://openalex.org/W4206044672","https://openalex.org/W2137884933","https://openalex.org/W4390789528","https://openalex.org/W1987432329","https://openalex.org/W2032959788"],"abstract_inverted_index":{"A":[0,118],"female":[1],"patient":[2],"from":[3,136],"India":[4,137],"was":[5,41,82,122],"diagnosed":[6],"with":[7,25,112,134],"diabetes":[8,20],"at":[9],"16":[10],"years":[11,146],"of":[12,44,62,73,89,95,116,132,147],"age":[13],"and":[14,27,30,35,50,57,64,138],"presented":[15],"to":[16,85,91],"a":[17,65,76,100],"tertiary":[18],"care":[19],"clinic":[21],"nine":[22],"months":[23],"later":[24],"hyperglycemia":[26],"dyslipidemia":[28,63,90],"(hypercholesterolemia":[29],"hypertriglyceridemia),":[31],"while":[32],"on":[33,46,68],"insulin":[34],"statin":[36],"therapy.":[37],"The":[38],"striking":[39],"feature":[40],"the":[42,60,80,86,92,104,125,129,140,144],"presence":[43,61],"lipodystrophy":[45,135],"both":[47],"her":[48,54],"upper":[49],"lower":[51],"limbs.":[52],"Both":[53],"elder":[55],"brother":[56],"mother":[58],"showed":[59],"normal":[66,77],"phenotype":[67],"cascade":[69],"screening.":[70],"All":[71],"three":[72,145],"them":[74],"had":[75],"BMI.":[78],"Managing":[79],"case":[81,131],"challenging":[83],"due":[84],"suboptimal":[87],"response":[88],"various":[93],"combinations":[94],"medication.":[96],"Genetic":[97],"testing":[98],"revealed":[99],"rare":[101],"mutation":[102,121],"in":[103,124],"LPL":[105],"gene,":[106],"causing":[107],"familial":[108],"combined":[109],"hyperlipidemia":[110],"(FCH)":[111],"an":[113],"unusual":[114],"association":[115],"lipodystrophy.":[117],"similar":[119],"heterozygous":[120],"found":[123],"mother.":[126],"We":[127],"report":[128],"first":[130],"FCH":[133],"share":[139],"challenges":[141],"encountered":[142],"during":[143],"follow-up.":[148]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2025-10-10T00:00:00"}