Journal: The Journal of Clinical Endocrinology and Metabolism
Article Title: Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety
doi: 10.1210/clinem/dgaa137
Figure Lengend Snippet: Comparison of regional body fat (by dual-energy x-ray absorptiometry scan) of FPLD2 subjects from UTSW cohort with the NHANES controls. Solid symbols signify subjects with “typical” LMNA variants vs unfilled symbols indicate those with “atypical” LMNA variants in females (circles) and males (squares). The data from the NHANES controls have been drawn as age-specific percentile values for comparison. (A) The upper limb fat was <5th percentile in most of the affected females except in five patients with atypical LMNA variants and in four with typical LMNA variants had higher values. (B) The upper limb fat ranged between the 1st and 25th percentile in the affected males. (C) All affected females, except 2, had lower limb fat ≤1st percentile of NHANES. Of the 2 exceptions, 1 patient had a p.G523R (atypical) variant; the other had a p.R482Q (typical) variants but had excess fat accumulation in the medial part of the thighs and knees. (D) The lower limb fat in the affected males was below the 25th percentile of NHANES. (E) Truncal fat ranged between the 1st and 75th percentile in most of the affected females. (F) The truncal fat ranged between the 1st and 75th percentile in the affected males. (G) The ratio of lower limb fat/truncal fat was ≤1st percentile (≤0.85) of NHANES in all affected females, except in 1 patient with a p.G523R (atypical) variant; and the other with a p.R482Q (typical) variant. (H) The ratio of lower limb fat/truncal fat was <25th percentile of NHANES in all affected males. NHANES, National Health and Nutrition Examination Survey; UTSW, UT Southwestern Medical Center.
Article Snippet: For the UTSW cohort, whole-body DXA examinations were acquired on Discovery W (S/N 80502) model machine according to the procedures recommended by the manufacturer (Hologic, Inc., Bedford, MA) ( 19 , 20 ).
Techniques: Comparison, Variant Assay