SUN-689 34-Year-Old Woman With Familial Partial Lipodystrophy Initially Suspected as Familial Hypertryglycerdiemia

Abstract Disclosure: K. Soguilon: None. S. Sitaula: None. We present a 34-year-old woman suspected to have familial partial lipodystrophy. Her history is notable for Type 2 diabetes (diagnosed at 13 years old) with severe insulin resistance, early-onset pancreatitis due to hypertriglyceridemia, status-post cholecystectomy, hypertension, hyperlipidemia, Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), Polycystic Ovary Syndrome (PCOS), and oligomenorrhea. Physical examination was notable for muscular appearance, lipoatrophy, hirsutism, and prominent acanthosis nigricans on the neck and flexor folds. Laboratory findings were notable for Elevated Hgb A1C (9.3%, n 3.9 - 5.6 %) , Normal C-peptide (1.3, n 0.5 - 3.3 ng/mL), glucose (83, n 74-109 mg/dl) normal, Glutamic Acid Decarboxylase Antibody (<5 IU/ml, n <5.0 IU/mL) normal, Triglycerides were very high (6,164 mg/dl, n 35 - 135 mg/dL), 17-Hydroxyprogesterone was normal (25.03 ng/dl), Anti-Mullerian Hormone was slightly elevated ( 5.021), IGF-1, (125 ng/ml collected at 33 years old, N 83-280 ng/ml), 1-mg dexamethasone suppression testing (<1.0 ug/dL), plasma metanephrines (<0.10 nmol/L, n 0.00 - 0.49 nmol/L), and prolactin (2.1 ng/ml, n 5.2 - 26.5 ng/mL) were all within the normal range. However, Leptin was low (5.0 ng/ml, 8.0-38.9 ng/mL). In addition, she underwent initial genetic screening for familial hyperlipidemia due to hypertriglyceridemia and found to have a variant of uncertain significance (VUS) in APOB4 c.3214G>C (p.Asp1072His) - heterozygous that was paternally inherited. Evaluation of body fat mass distribution was not performed using X-ray densitometry. Treatment was escalated to manage her diabetes with regular insulin U500 of 570 units in the morning and 500 units in the evening for a total daily dose of 1070 units daily. For hypertriglyceridemia patient was on fenofibrate 200 mg daily and Rosuvastatin 40 mg daily. Spironolactone 100 mg was prescribed for hirsutism. The patient was also examined for potential causes of insulin malabsorption, but hyperlipotrophy was negative on exam. She was initially started on metformin for insulin resistance but developed intolerance due to gastrointestinal side effects. Conclusion: This is a rare case of familial partial lipodystrophy with phenotypical features consistent with the underlying disease and severe insulin resistance. Her leptin level of 5.0 ng/ml is below the reference range for her BMI and age group and thus can benefit from Metreleptin treatment. The patient is referred for a clinical trial for Metreleptin treatment at UC Davis Medical Center. Reference: Brown RJ, Araujo-Vilar D, Cheung PT, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016;101(12):4500-4511. doi:10.1210/jc.2016-2466 Presentation: Sunday, July 13, 2025