From: Risk factors for diabetic foot ulcers in metreleptin naïve patients with lipodystrophy
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | |
---|---|---|---|---|---|---|---|---|---|
Current age | Died at age 66 | 35 | 26 | 55 | 25 | Died at age 26 | 66 | 33 | 38 |
Gender (F/M) | M | F | F | F | F | F | F | F | F |
Type of lipodystrophy | CGL1 | CGL1 | CGL1 | FPLD1 | CGL1 | CGL2 | APL | CGL1 | FPLD2 |
Pathogenic variant | AGPAT2 Homozygous p.R68X (c.202 C > T) | AGPAT2 Homozygous IVS5-2 A > C (c.662-2 A > C) | AGPAT2 Homozygous p.E229X (c.685G > T) | Negative | AGPAT2 Homozygous p.K216X (c.646 A > T) | BSCL2 Homozygous p.Q94X (c.280 C > T) | No genetic testing done | AGPAT2 Homozygous p.D180PfsX5 (c.538_539delGA) | LMNA Heterozygous p.R482W (c.144 C > T) |
Age at first episode | 66 | 27 | 24 | 50 | 24 | 24 | 65 | 32 | 34 |
Complications of lipodystrophy and diabetes | Nephropathy Neuropathy CAD PAD | Retinopathy Nephropathy Neuropathy CAD PAD | Nephropathy Neuropathy PAD | Retinopathy Neuropathy PAD | Retinopathy Nephropathy Neuropathy | Retinopathy Nephropathy Neuropathy PAD | Retinopathy Nephropathy Neuropathy PAD | Nephropathy Neuropathy | Retinopathy Neuropathy |
Leptin (ng/mL) | 0.76 | 0.85 | 0.38 | 12.57 | 0.79 | 0.10 | N/A | < 0.10 | 0.94 |
Adiponectin (ng/mL) | 1.80 | 0.54 | 1.50 | 4.29 | 0.09 | 27.21 | N/A | N/A | 5.12 |
Treatment of lipodystrophy related metabolic diseases and other medications | Basal-bolus insulin Atorvastatin Amlodipine Furosemide α-lipoic acid Gabapentin Clopidogrel ASA | Basal-bolus insulin Metformin Atorvastatin Nebivolol Zofenopril Tacrolimus Mycophenolate mofetil ASA Cilostazol Clopidogrel | Basal-bolus insulin Metformin Pioglitazone Fenofibrate Cilostazol Clopidogrel | Basal-bolus insulin Metformin Pregabalin | Basal-bolus insulin Metformin Fenofibrate | Basal-bolus insulin Calcitriol Furosemide Propranolol Cilostazol ASA | Premix insulin Sitagliptin Atorvastatin | Basal-bolus insulin Metformin Pioglitazone Fenofibrate | Basal-bolus insulin Metformin Fenofibrate Citalopram Adalimumab Metoprolol |