{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:01:10Z","timestamp":1775804470169,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T00:00:00Z","timestamp":1775779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant laminopathy caused by LMNA gene variants. It is characterized by progressive gluteofemoral lipoatrophy and severe metabolic derangements, including insulin resistance and metabolic dysfunction\u2013associated steatotic liver disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Three Colombian women (two sisters and a daughter) underwent standardized clinical phenotyping, dual-energy X-ray absorptiometry (DXA), cardiometabolic laboratory testing, and next-generation sequencing\u2013based testing for lipodystrophy-related genes with copy-number variant analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All patients carried the heterozygous LMNA variant c.604G&amp;gt;C (p.Glu202Gln). Patients 1 and 2 exhibited classic Dunnigan phenotypes with diabetes and severe hypertriglyceridemia (up to 1,471 mg\/dL), as well as imaging evidence of metabolic dysfunction\u2013associated steatotic liver disease. Patient 3 (age 27) presented an evolving phenotype with central adiposity, clinically reported lower-limb fat loss, and insulin resistance (homeostatic model assessment for insulin resistance [HOMA-IR], 4), without hepatic steatosis on abdominal ultrasound. Management optimization in Patients 1 and 2 using contemporary combination therapy, including glucagon-like peptide-1 receptor agonist\u2013based treatment and sodium-glucose cotransporter-2 inhibitors, was followed by sustained improvement in glycemia (HbA1c 11.1% to 7.6% in Patient 1) and triglycerides. In Patient 3, liraglutide was discontinued due to poor tolerability and limited weight response, and she was transitioned to semaglutide in February 2026.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case series expands the phenotypic spectrum of LMNA-associated FPLD2 and supports a disease association for the p.Glu202Gln variant despite its current classification as a variant of uncertain significance. It demonstrates that modern cardiometabolic therapies can be implemented in middle-income settings; however, the absence of functional data, population frequency metrics, and genetic testing in unaffected relatives limits the strength of variant interpretation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1788846","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:05:58Z","timestamp":1775801158000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G&gt;C; p.Glu202Gln): a Colombian family case series"],"prefix":"10.3389","volume":"17","author":[{"given":"Carolina","family":"Mendoza","sequence":"first","affiliation":[{"name":"Endocrinology Service, Cl\u00ednica Virrey Solis","place":["Barranquilla, Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raquel","family":"Cano","sequence":"additional","affiliation":[{"name":"Endocrinology Service, Cl\u00ednica General del Norte","place":["Barranquilla, Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Burgos","sequence":"additional","affiliation":[{"name":"Endocrinology Service, Cl\u00ednica Portoazul","place":["Barranquilla, Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Arturo","family":"Silvera","sequence":"additional","affiliation":[{"name":"Genetic Service, Cl\u00ednica General del Norte","place":["Barranquilla, Colombia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3390\/cells12050725","article-title":"Clinical spectrum of LMNA-associated type 2 familial partial lipodystrophy: a systematic 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