Table 3.
Summary of clinical and genotypic characteristics of familial partial lipodystrophy type 1 (Köbberling) group
| Case, age, sex | Genotype | Clinical lipoatrophy | Fat deposition | BMI | Diabetes treatment | A1c | PCOS | Comorbidities | Dyslipidemia | Higher triglycerides value (mg/dL) | Current Dyslipidemia treatment |
|---|---|---|---|---|---|---|---|---|---|---|---|
| K1, 37, F | Negative | Four limbs | DC, H, ABD | 37,7 | MTF, PIO, GLI, INS (1,2) | 10,0 | yes | HBP | ↓HDL,↑TGL | 382 | ATO |
| K2, 54, F | Negative | Four limbs | H, ABD | 25,9 | MTF, PIO, INS (1,9) | 11,8 | menopause | HBP, DR, DPN | ↓HDL,↑TGL | 540 | ROS, EZE |
| K3, 54, F | Negative | Four limbs | DC, ABD | 28,0 | MTF, INS (1,48) | 9,0 | menopause | HBP, mild HE, DR, CI | ↓HDL,↑TGL | 345 | SIN, CIP |
| K4, 61, F | Negative | Four limbs | DC, H, ABD | 30,6 | MTF, INS (1,77) | 7,6 | menopause | HBP, DR, DPN, CAD, CI, CKD | ↓HDL,↑TGL | 191 | ATO |
| K5, 44, F | Negative | Four limbs | DC, H, ABD | 30,0 | MTF, PIO, INS (1,55) | 12,0 | Yes | HBP, mild HE, DPN | ↓HDL,↑TGL | 9900 | ROS, EZE, CIP |
| K6, 42, F | Negative | Four limbs | DC, ABD | 22,1 | MTF | 4,9 | No | HBP | ↓HDL,↑TGL | 263 | SIN |
| K7, 55, F | Negative | Four limbs | DC, ABD | 28,8 | MTF | 7,2 | menopause | Mild HE | ↓HDL | 156 | SIN |
| K8*, 52, F | AGPAT2, ABCA1 | Lower limbs | DC, ABD | 31,5 | MTF, PIO, INS (0,7) | 9,4 | menopause | HBP, DPN | ↓HDL,↑TGL | 315 | ATO |
| K9, 59, F | Negative | Four limbs | ABD | 26,4 | MTF, PIO, GLI, INS (2,09) | 10,0 | yes | HBP, DPN, CAD, CI | ↓HDL,↑TGL | 1075 | ATO, CIP |
| K10, 40, F | Negative | Lower limbs | DC, H, ABD | 26,0 | MTF, INS (1,1) | 11,9 | menopause | DPN | ↓HDL,↑TGL | 5745 | ATO, CIP |
| K11, 55, F | Negative | Lower limbs | DC, H, ABD | 39,7 | MTF, INS (1,88) | 9,0 | No | HBP, DR, DPN, CI | ↓HDL,↑TGL | 172 | ATO, CIP |
| K12, 29, F | Negative | Upper limbs | DC, H, ABD | 39,9 |
MTF (IFG) |
6,1 | menopause | HBP | ↓HDL,↑TGL | 191 | no |
| K13, 42, F | Negative | Lower limbs | DC, H, ABD | 26,2 | MTF, INS (2,04) | 9,2 | yes | DPN, CAD, CI | ↓HDL,↑TGL | 1869 | ATO, EZE, CIP |
| K14, 62, F | Negative | Four limbs | DC, H, ABD | 30,9 | MTF, PIO, DAP, INS (1,0) | 6,7 | No | HBP, DPN, CAN, CAD, CI | ↓HDL,↑TGL | 336 | ATO |
| K15, 56, F | Negative | Lower limbs | DC, ABD | 21,6 | MTF, GLI& | 9,6 | menopause | DPN, CAD | ↓HDL,↑TGL | 266 | CIP |
| K16, 49, F | Negative | Four limbs | DC, ABD | 28,8 | MTF, INS (0,84) | 8,0 | menopause | HBP, DR, CAD, CKD | ↓HDL,↑TGL | 334 | ROS, EZE |
| K17, 39, F | Negative | Four limbs | DC, H, ABD | 33,2 | MTF, INS (1,85) | 6,5 | No | HBP, DR, DPN | ↓HDL,↑TGL | 162 | ATO |
| K18, 40, F ** | LPL p.Glu448Lys | no | DC, H, ABD | 26,7 | MTF, INS (1,2) | 7,1 | No | HBP, DPN | ↓HDL,↑TGL | 321 | ATO |
| K19, 60, F ** | LPL p.Asn318Ser | Upper limbs | DC, H, ABD | 35,5 | MTF, EMP, INS (1,28) | 9,7 | menopause | HBP, DR, DPN, CKD | ↓HDL,↑TGL | 1872 | ATO |
* Heterozygous variant in the AGPAT2 and ABCA1 genes
** Heterozygous variant in the LPL genes
# Heterozygous variants in LPL, AGPAT2 and ABCA1 genes are classified as variant of uncertain significance, 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; ATO, atorvastatin; CAD, coronary artery disease; CI, cardiac insufficiency; CIP, ciprofibrate; CKD, chronic kidney disease; DC, double chin; DPN, diabetic polyneuropathy; DR, diabetic retinopathy; EZE, ezetimibe; F, female; H, hump; GLI, gliclazide; HBP, high blood pressure; HDL, high density lipoprotein; HE, hepatic steatosis; INS, insulin; M, male; MTF, metformin; NAFLD, non-alcoholic fatty liver disease; PAD, peripheral artery disease; PIO, pioglitazone; ROS, rosuvastatin; SIN, simvastatin; TGL, triglycerides