Table 2.
Summary of clinical and genotypic characteristics of familial partial lipodystrophy positive genotype patients
| Case, age, sex | Genotype | Clinical lipoatrophy | Fat deposition | BMI | Diabetes treatment | A1c | PCOS | Comorbidities | Dyslipidemia | Higher triglycerides value (mg/dL) | Current Dyslipidemia treatment |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A1, 25, F | LMNA p.(Arg582Cys) | Four limbs | DC, H | 25,6 | MTF (IFG) | 5,2 | yes | no | no | 83 | no |
| B1, 53, F | LMNA p.(Arg582Cys) | Lower limbs | DC, H, ABD | 28,06 | MTF, PIO, INS (2,48) | 9,6 | yes | HBP, mild HE, DR, DPN | ↓HDL | 392 | ATO |
| B2, 58, F | LMNA p.(Arg582Cys) | Lower limbs | H, ABD | 27,3 | MTF, PIO, GLI& | 13,9 | menopause | HBP | ↑TGL | 307 | no |
| C1, 29, F * | LMNA p.(Arg582Cys) | Four limbs | No | 19,0 | MTF, PIO, INS (1,83) | 8,1 | yes | Moderate HE, CAN | ↓HDL,↑TGL | 4459 | ATO, CIP |
| C2, 31, F *† | LMNA p.(Arg582Cys), ABCA1 | Four limbs | DC, ABD | 20,3 | MTF, PIO | 6,8 | no | Mild HE, DPN | ↓HDL,↑TGL | 1264 | CIP |
| D1, 33, F | LMNA p.(Arg482Trp) | Four limbs | DC, ABD | 23,6 | MTF, PIO | 8,8 | yes | Mild HE, DPN | ↓HDL,↑TGL | 245 | ATO |
| D3, 67, F | LMNA p.(Arg482Trp) | Four limbs | ABD | 22,9 | MTF, GLI | 6,3 | menopause | HBP, liver Tx by NAFLD, PAD, CKD, DR, DPN | ↓HDL | 248 | SIN |
| E1, 52, F | LMNA p.(Arg582Cys) | Four limbs | ABD | 24,5 | MTF (IFG) | 5,7 | no | HBP, mild HE, CAD, CAN | ↓HDL,↑TGL | 379 | ATO |
| F1, 33, F | LMNA p.(Arg582Cys) | Lower limbs | DC, H, ABD | 32,3 | INS (0,75) | 8,5 | yes | Mild HE | ↑TGL | 100 | no |
| F2, 30, F | LMNA p.(Arg582Cys) | Lower limbs | DC, H, ABD | 31,6 | MTF (IFG) | 5,1 | yes | no | ↓HDL,↑TGL | 193 | no |
| F3, 42, F | LMNA p.(Arg582Cys) | Four limbs | DC, H, ABD | 30,9 | No (newly diagnosed diabetes) | 9,6 | yes | No | ↓HDL,↑TGL | 185 | SIN |
| G1, 57, F | LMNA p.(Arg582Cys) | Four limbs | DC, ABD | 23,1 | MTF | 6,3 | menopause | HBP, CI, CKD, mild HE | ↓HDL,↑TGL | 471 | ATO |
| G3, 59, F | LMNA p.(Arg582Cys) | Four limbs | DC, H, ABD | 28,8 | MTF, INS (0,75) | menopause | no | ↓HDL,↑TGL | 254 | SIN | |
| H1, 32, F | LMNA p.(Arg582Cys) | Four limbs | DC, H, ABD | 25,5 | MTF, PIO, GLIC | 8 | yes | Mild HE | ↓HDL,↑TGL | 4523 | ATO, EZE, CIP |
| I1, 23, F | LMNA p.(Arg582Cys) | Lower limbs | DC, H, ABD | 35,2 | MTF (IFG) | 5,8 | yes | no | ↓HDL,↑TGL | 254 | no |
| J1, 41, F | PPARG p.(Leu298Profs*41) | Lower limbs | ABD | 20,1 | MTF, INS (2,21) | 10,2 | yes | DPN | ↓HDL,↑TGL | 816 | no |
| L1, 38, F | PPARG p.(Leu298Profs*41) | Lower limbs | DC, H, ABD | 26,0 | MTF, PIO, GLI, ALO, INS (1,7) | 8,9 | yes | HBP | ↓HDL,↑TGL | 218 | ROS |
| L2, 36, F | PPARG p.(Leu298Profs*41) | Four limbs | DC, ABD | 23,5 | MTF (IFG) | 5,7 | no | no | ↓HDL,↑TGL | 511 | GEM |
* Homozygous variant in LMNA gene
† Homozygous variant in ABCA1 gene
& Does not accept insulin therapy
# LMNA and PPARG variants are classified as pathogenic in both homozygous and heterozygous presentations, as their inheritance follows an autosomal dominant pattern, according to the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
# The numbers in parentheses represent the amount of insulin units per kilogram of weight
Notes: ABD, abdominal; ALO, alogliptin; ATO, atorvastatin; CAD, coronary artery disease; CAN, cardiovascular autonomic neuropathy; CIP, ciprofibrate; CKD, chronic kidney disease; DC, double chin; DE, erectile dysfunction; HE, hepatic steatosis; EZE, ezetimibe; F, female; G, hump; GEM, gemfibrozil; GLI, gliclazide; HAS, systemic arterial hypertension; HDL, high density lipoprotein; IC, heart failure; INS, insulin; M, male; MMSS, upper limbs; MMII, lower limbs; MTF, metformin; NAFLD, non-alcoholic fatty liver disease; PAD, peripheral arterial obstructive disease; PIO, pioglitazone; PND, diabetic polyneuropathy; RD, diabetic retinopathy; ROS, rosuvastatin; SIN, simvastatin; TGL, triglycerides; TX, transplant