ECE2016 Guided Posters Cardiovascular endocrinology (9 abstracts)
Familial partial lipodystrophy type 3 due to PPARgamma mutation: presentation with diabetes and severe hypertriglyceridemia
Joana Oliveira 1, , Filipe Cunha 1, , Elisabete Rodrigues 1, , Joana Menezes 1, , Ana Saavedra 1, , Maria Manuel Costa 1, , Daniela Magalhães 1, , Rita Bettencourt-Silva 1, , Susana Fernandes 2, , João Paulo Oliveira 2, , Davide Carvalho 1, & Paula Freitas 1,
1Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar São João, Porto, Portugal; 2Department of Genetics, Centro Hospitalar São João, Porto, Portugal; 3Faculty of Medicine, University of Porto, Porto, Portugal; 4Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
Introduction: Familial partial lipodystrophy (FPL) is an autosomal dominant disease characterized by selective loss of subcutaneous fat from the extremities and gluteal region, with lipohypertrophy of the face, neck and trunk. It is usually tightly linked with severe metabolic complications. FPL type 3 results from peroxisome proliferator-activated receptor gamma (PPARG) mutations.
Case presentations: Fifty three-year-old woman, referred to endocrinology department for severe dyslipidemia with hypercholesterolemia and hypertriglyceridemia (11 729 mg/dl), and ‘type 2’ diabetes (T2D). She was treated with insulin totalling 128 UI/d, simvastatin (20 mg/d) and fenofibrate (267 mg/d). She presented with hypertension, and there was no history of pancreatitis. She had a family history of T2D, dyslipidemia and premature cardiovascular disease (CVD). Physical examination revealed: weight 50.3 kg; BMI 23.3 kg/m2; lipoatrophy of the extremities with preserved subcutaneous fat in face and trunk. There was no xanthomas, xanthelasmas or lipemia retinalis. A1c 10.3%; total cholesterol 921 mg/dl; HDL cholesterol 56 mg/dl; LDL cholesterol 195mg/dl; triglycerides 4679 mg/dl. Lipemic serum, with milky appearance. Genetic study detected the variant c.581G>A (p.Arg194Trp) in exon 4 of the gene PPARG. A patient’s sister, a 40-year-old woman, was also admitted to endocrinology department, with the same metabolic disorders. Physical examination showed: weight 52.7 kg; BMI 24.4 kgm2; lipoatrophic extremities with muscular hypertrophy and vascular prominence; abdominal prominence and hepatomegaly. A1c 12.7%; total cholesterol 642 mg/dl; HDL cholesterol 90 mg/dl; LDL cholesterol 121mg/dl; triglycerides 2404 mg/dl. Hepatomegaly with steatosis (22 cm). There was an improvement of metabolic parameters after therapeutic optimization, but the patient was readmitted 10 months later, presenting A1c 12.2% and severe hypertriglyceridemia (14 845 mg/dl), with eruptive xanthomas. Genetic testing confirmed the same PPARG gene mutation.
Conclusion: The clinical features and biochemical profile suggested the diagnosis of genetic lipodystrophy, confirmed as FPL type 3. We underline the importance of clinical suspicion and early intervention of metabolic complications, in order to prevent early onset of CVD and the occurrence of pancreatitis.
Volume 41
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Endocrine Abstracts
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