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Endocrine Abstracts (2022) 81 P340 | DOI: 10.1530/endoabs.81.P340

1IRCCS Azienda Ospedaliero - Universitaria di Bologna - Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum, University of Bologna, Division of Endocrinology and Diabetes prevention and Care, Bologna, Italy; 2Azienda ospedaliera universitaria Policlinico Tor Vergata, Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy

Background and Objective: Severe metabolic complications generally manifest at an early age in Berardinelli – Seip congenital lipodystrophy (BSCL) and their management is especially challenging, often requiring prompt pharmacological treatment with insulin-sensitizers, lipid lowering drugs, insulin and eventually metreleptin. Nutritional intervention with low lipid personalized diets is considered by experts a fundamental tool in handling the disease when associated with medical therapy, but little is known about the beneficial effect of diet intervention alone. This report aims to underline the importance of a well-structured low-fat diet in BSCL patients, by presenting a rare case of successful long-term disease control with the use of a low-fat diet only.

Methods and Results: A BSCL male patient strictly followed a personalized hypolipemic diet since clinical diagnosis at one year of age, with daily intake divided into 25 % lipids, 20% proteins and 55% carbohydrates. Interestingly, pharmacological intervention was not required at any point during follow up. At 16 – years old, age of transition from Paediatric to our Division, the patient weighed 40 kg and had a height of 162 cm (BMI 15,24 kg/m2), P5/B5 Tanner stage, 135/75 blood pressure, 12 % total body fat and normal BMD for age (evaluated by DEXA). Biochemistry, evaluation of thyroid function and sex hormones, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities and therefore an excellent control of the syndrome by an exclusive dietary therapy. Genetic analysis and leptin dosage were carried out, confirming the diagnosis of BSCL type 1 (homozygosity for c.493–1G>C pathogenic variant in AGPAT2 gene) and showing undetectable circulating levels of leptin (< 0.2 mg/l).

Conclsions: This report proves how a personalized low-fat diet is of great help in the management of BSCL and its complications; furthermore, a specific hypolipemic diet may be used alone as an effective long-term treatment in selected cases with high compliance and, probably, a milder phenotype.

Volume 81

European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

European Society of Endocrinology 

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