Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series
Abstract
Introduction: 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-associated steatotic liver disease.
Methods: 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-based testing for lipodystrophy-related genes with copy-number variant analysis.
Results: All patients carried the heterozygous LMNA variant c.604G>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-associated 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-based 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…
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Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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