Clinical Case: Familial Partial Lipodystrophy

Abstract

Introduction Lipodystrophy syndromes are a heterogeneous group of diseases, where the primary defect is the loss of functional adipocytes. This leads to ectopic steatosis, severe dyslipidemia, and insulin resistance [1,2]. Case Presentation A 34-year-old woman with type 1 diabetes, hypertriglyceridemia, polycystic ovary syndrome (PCOS), and arterial hypertension (HTN) was hospitalized in the Endocrinology Department of LSMU Kaunas Clinics due to poorly controlled glycemia. At admission, she was at 18 weeks of gestation (gravida III, para II). Family history was significant for diabetes, affecting the patient’s brother, sister, and both grandmothers. Due to suspected genetically inherited diabetes, the patient was sent for genetic consultation. Conclusion of the Genetic Evaluation: Peroxisome Proliferator-Activated Receptor Gamma (PPARG) gene mutation causing familial partial lipodystrophy (FPLD3). Following a multidisciplinary team meeting, leptin therapy was not indicated during pregnancy. Furthermore, amniocentesis revealed a PPARG gene mutation. The patient’s brother and sister were referred for genetic consultation, as both have symptoms characteristic of FPLD3. A 32-year-old brother has HTN, hypertriglyceridemia, and type 2 diabetes. 36-year-old sister - HTN, unspecified diabetes with insulin resistance, hypertriglyceridemia with need for plasmapheresis, suspected of PCOS. Conclusion of the Genetic Evaluation: PPARG gene mutation. Discussion FPLD3 is the most common form and is usually an autosomal dominant Mendelian disorder. It has been estimated that their global prevalence is 1.7–2.8 cases per million for FPLD3 [2]. The main symptoms are hypertriglyceridemia, diabetes, HTN, PCOS, and liver steatosis [3]. No welldefined diagnostic criteria have been established for lipodystrophy. Thus, its diagnosis is based on medical history, physical examination, body composition, and the evaluation of metabolic complications [2]. Treatment focuses on intensive management of metabolic complications. Leptin replacement therapy with metreleptin is indicated in FPLD3 patients with severe metabolic complications and low leptin levels [4]. Conclusions Familial partial lipodystrophy is a very rare disease [1-4]. This clinical case highlights the importance of thoroughly evaluating not only the patient but also at-risk family members.