The Division of Nutrition and Metabolic Diseases and the Center for Human Nutrition, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas.
Department of Population and Data Sciences, UT Southwestern Medical Center, Dallas, Texas.
J Clin Endocrinol Metab. 2020 Jul 1;105(7):2132-41. doi: 10.1210/clinem/dgaa137.
Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal dominant disorder resulting from LMNA causal variants, which is characterized by loss of subcutaneous fat from the extremities and predisposition to metabolic complications. The diagnostic value of various anthropometric measurements for FPLD2 remains unknown.
To determine specificity and sensitivity of anthropometric measurements for the diagnosis of FPLD2.
We measured skinfold thickness and regional body fat by dual energy X-ray absorptiometry (DXA) in 50 adult females and 6 males with FPLD2 at UT Southwestern and compared their data with the sex- and age-matched controls from the National Health and Nutrition Examination Survey (NHANES) 1999-2010. We further compared data from 1652 unaffected females from the Dallas Heart Study and 23 females with FPLD2 from the National Institutes of Health with the NHANES data.
The DXA-derived lower limb fat (%) had the best specificity (0.995) and sensitivity (1.0) compared with the upper limb fat, truncal fat, the ratio of lower limb to truncal fat, and triceps skinfold thickness for adult females with FPLD2. The lower limb fat below 1st percentile of NHANES females had a false-positive rate of 0.0054 and a false negative rate of 0. The diagnostic value of anthropometric parameters could not be determined for males with FPLD2 due to small sample size.
The lower limb fat (%) is the best objective anthropometric measure for diagnosing FPLD2 in females. Women with below the 1st percentile lower limb fat should undergo genetic testing for FPLD2, especially if they have metabolic complications.
家族性部分脂肪营养不良，邓尼根型（FPLD2）是一种罕见的常染色体显性遗传疾病，由 LMNA 致病变异引起，其特征是四肢皮下脂肪丧失，并易发生代谢并发症。各种人体测量学指标对 FPLD2 的诊断价值尚不清楚。
确定人体测量学指标对 FPLD2 诊断的特异性和敏感性。
我们在德克萨斯西南医学中心测量了 50 名成年女性和 6 名男性 FPLD2 患者的皮褶厚度和区域体脂肪，并将其数据与 1999-2010 年国家健康和营养检查调查（NHANES）中性别和年龄匹配的对照组进行比较。我们还将来自达拉斯心脏研究的 1652 名未受影响的女性数据和来自美国国立卫生研究院的 23 名 FPLD2 女性数据与 NHANES 数据进行了比较。
与上肢脂肪、躯干脂肪、下肢与躯干脂肪比和肱三头肌皮褶厚度相比，DXA 衍生的下肢脂肪（%）在女性 FPLD2 患者中具有最佳的特异性（0.995）和敏感性（1.0）。FPLD2 女性的下肢脂肪低于 NHANES 女性第 1 百分位数的假阳性率为 0.0054，假阴性率为 0。由于男性 FPLD2 患者的样本量较小，无法确定人体测量参数的诊断价值。
下肢脂肪（%）是女性 FPLD2 诊断的最佳客观人体测量指标。下肢脂肪低于第 1 百分位数的女性应进行 FPLD2 的基因检测，尤其是如果她们有代谢并发症的话。
