PDF(Pubmed)
Abstract：
Severe metabolic complications generally manifest at an early age in Berardinelli - Seip congenital lipodystrophy (BSCL) and their management is especially challenging. Nutritional intervention with low lipid diets is considered by experts to be fundamental in treating the disease when associated with medical therapy, however little is known about the beneficial effects of dietary interventions alone.
To underline the importance of a well-structured low-fat diet in BSCL patients.
A BSCL male patient strictly followed a hypocaloric hypolipemic diet (60% carbohydrates, 22% fats and 18% proteins) since clinical diagnosis at the age of one year. Interestingly, pharmacological interventions were not required at any point during the follow-up. Aged 16 years the patient was referred to our center. Biochemistry, hormonal evaluation, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities. 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 mcg/L). Diet therapy alone was therefore maintained, scheduling follow-up visits every six months, with acceptable disease control ever since.
This report proves how a low-fat diet is of great help in the management of BSCL and its complications. In addition, a specific hypolipemic diet could be used alone as an effective treatment in selected cases with high compliance and, probably, a milder phenotype.
To underline the importance of a well-structured low-fat diet in BSCL patients.
A BSCL male patient strictly followed a hypocaloric hypolipemic diet (60% carbohydrates, 22% fats and 18% proteins) since clinical diagnosis at the age of one year. Interestingly, pharmacological interventions were not required at any point during the follow-up. Aged 16 years the patient was referred to our center. Biochemistry, hormonal evaluation, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities. 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 mcg/L). Diet therapy alone was therefore maintained, scheduling follow-up visits every six months, with acceptable disease control ever since.
This report proves how a low-fat diet is of great help in the management of BSCL and its complications. In addition, a specific hypolipemic diet could be used alone as an effective treatment in selected cases with high compliance and, probably, a milder phenotype.
摘要：
■在Berardinelli-Seip先天性脂肪营养不良（BSCL）中，严重的代谢并发症通常在早期出现，其管理尤其具有挑战性。专家认为，在与药物治疗相关的情况下，低脂饮食的营养干预是治疗该疾病的基础。然而，关于单独的饮食干预的有益效果知之甚少。
■强调BSCL患者结构良好的低脂饮食的重要性。
■一名BSCL男性患者严格遵循低热量低脂饮食（60％碳水化合物，22％的脂肪和18％的蛋白质）自1岁的临床诊断以来。有趣的是,在随访期间的任何时间点都不需要药物干预.16岁的患者被转诊到我们的中心。生物化学,荷尔蒙评估，75毫克口服葡萄糖耐量试验，进行心脏评估和腹部超声检查，没有发现异常.进行了遗传分析和瘦素剂量，确认BSCL1型（AGPAT2基因中c.493-1G>C致病性变异的纯合性）的诊断，并显示未检测到的瘦素循环水平（<0.2mcg/L）。因此，单独的饮食治疗得以维持，安排每六个月的随访，从那以后就有了可接受的疾病控制。
■该报告证明了低脂饮食如何对BSCL及其并发症的管理有很大帮助。此外,一个特定的降血脂饮食可以单独使用作为一个有效的治疗在选定的病例高依从性，可能,温和的表型。
■强调BSCL患者结构良好的低脂饮食的重要性。
■一名BSCL男性患者严格遵循低热量低脂饮食（60％碳水化合物，22％的脂肪和18％的蛋白质）自1岁的临床诊断以来。有趣的是,在随访期间的任何时间点都不需要药物干预.16岁的患者被转诊到我们的中心。生物化学,荷尔蒙评估，75毫克口服葡萄糖耐量试验，进行心脏评估和腹部超声检查，没有发现异常.进行了遗传分析和瘦素剂量，确认BSCL1型（AGPAT2基因中c.493-1G>C致病性变异的纯合性）的诊断，并显示未检测到的瘦素循环水平（<0.2mcg/L）。因此，单独的饮食治疗得以维持，安排每六个月的随访，从那以后就有了可接受的疾病控制。
■该报告证明了低脂饮食如何对BSCL及其并发症的管理有很大帮助。此外,一个特定的降血脂饮食可以单独使用作为一个有效的治疗在选定的病例高依从性，可能,温和的表型。
