Table 1.
Patients with HCAs that did not regress
| Age | Sex | GSD type | DNA analysis | Age at HCA discovery (years) | Average triglyceride level (mg/dL) | Number of HCAs | Largest HCA size (cm) | HCA change in last 5 years | Avg. follow-up (years) | |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 20 | M | GSD Ia | 35X/Q347X | 16 | 584 ± 297 | 1 | 0.8 | Stable | 5 |
| 2 | 21 | F | GSD Ia | R83C | 16 | 325 ± 110 | 2 | 1.0 | Stable | 6 |
| 3 | 10 | M | GSD Ia | R83C/E110K | 3 | 289 ± 65 | 1 | 1.3 | Stable | 6 |
| 4 | 47 | M | GSD Ia | R83C/Q347X | 19 | 546 ± 118 | 3 | 1.3 | Stable | 6 |
| 5 | 15 | M | GSD Ia | R83C/G270V | 9 | 295 ± 69 | 1 | 1.4 | Stable | 5 |
| 6 | 14 | M | GSD Ib | 464del10ins3C/1211delCT | 6 | 146 ± 41 | 2 | 1.8 | Stable | 8 |
| 7 | 59 | F | GSD Ia | R170Q/Q347X | 56 | 250 ± 61 | 2 | 3.1 | Stable | 1 |
| 8 | 32 | M | GSD Ia | R83C | ?? | 1,348 ± 953 | 3 | 3.2 | Stable | 7 |
| 9 | 25 | M | GSD Ib | G339C/1042delCT | 23 | 143 ± 25 | 1 | 3.3 | Stable | 2 |
| 10 | 30 | F | GSD Ia | R83C | 16 | 905 ± 299 | 15 | 3.6 | Stable | 15 |
| 11 | 40 | F | GSD Ia | R83C | Teenager | 314 ± 48 | 3 | 3.8 | Stable | 7 |
| 12 | 43 | F | GSD Ia | R83C/212X | 13 | 1,004 ± 113 | 4 | 8.0 | Stable | 12 |
| 13 | 18 | M | GSD Ia | R83C/Q242X | 8 | 890 ± 500 | 4 | 2.5 | Possible regression of adenomas; however, no MR for confirmation | 9 |
| 14 | 20 | M | GSD Ib | 1211delCT/C381 + 1G > T | 15 | 79 ± 25 | 2 | 1.3 | Decrease in size with possible resolution, but no MR for confirmation | 4 |
| 15 | 36 | F | GSD Ia | R83C/Q347X | 31 | 474 ± 129 | 2 | 3.5 | Largest lesion stable, questionable disappearance of smaller lesion | 8 |
| 16 | 38 | M | GSD Ia | R83C | 19 | 342 ± 86 | 2 | 2.2 | Largest lesion stable, smaller 9 cm lesion has developed | 7 |
| 17 | 16 | F | GSD Ia | T108I | 12 | 259 ± 147 | 4 | 1.3 | Largest increased by 0.5 cm | 3 |
| 18 | 38 | F | GSD Ia | ?? | 19 | 501 ± 145 | 5 | 3.9 | Largest increased by 0.7 cm | 12 |
| 19 | 43 | M | GSD Ia | R83C/G188S | ?? | 340 ± 107 | >20 | 5.5 | Largest increased by 1 cm | 5 |
| 20 | 18 | F | GSD Ia | Q347X | 13 | 551 ± 359 | >20 | 4.9 | Largest increased by 1 cm | 6 |
| 21 | 12 | F | GSD Ib | G68R/Q248X | 6 | 189 ± 39 | 4 | 4.0 | Largest grew by 1.3 cm | 6 |
| 22 | 41 | M | GSD Ia | A124T/Q347X | 37 | 341 ± 137 | 8 | 4.0 | Largest increased by 1.7 cm (previously had a 13.5 cm lesion which was resected) | 4 |
| 23 | 28 | M | GSD Ia | Q347X | 15 | 349 ± 91 | >20 | 4.8 | Largest increased by 2 cm with new lesions developing | 4 |
| 24 | 27 | M | GSD Ia | Q347X | 16 | 237 ± 116 | 6 | 4.0 | Largest increased by 2 cm | 12 |
| 25 | 35 | M | GSD Ia | Q347X/Q242X | 25 | 498 ± 102 | 4 | 5.6 | Largest increased by 2 cm | 3 |
| 26 | 24 | F | GSD Ia | 35X/D38V | 14 | 479 ± 107 | 7 | 5.6 | Increase in size by 2.5 cm | 5 |
| 27 | 39 | F | GSD Ia | R83C | 11 | 888 ± 302 | 8 | 4.2 | Largest increased by 3 cm with new lesions developing | 13 |
| 28 | 29 | F | GSD Ia | R83C | 16 | 729 ± 77 | >20 | 6.1 | Largest increased by 4 cm with new lesions developing | 6 |
| 29 | 46 | M | GSD Ia | R83C | 15 | 404 ± 140 | >20 | 17.4 | Increase by 6 cm | 2 |
| 30 | 33 | F | GSD Ia | T108I | 19 | 232 ± 55 | 1 | Prior 14 cm lesion | Lesion resected, no new lesions | 11 |
| 31 | 28 | F | GSD Ia | R83C | 12 | 947 ± 365 | 1 | Prior 4.3 cm lesion | Lesion resected, no new lesions | 7 |
| 32 | 30 | M | GSD Ia | Q347X/Q242X | 21 | 315 ± 113 | 8 | 6.5 | Right hepatectomy, otherwise stable | 2 |
| 33 | 19 | M | GSD Ia | 158delC | 10 | 632 ± 135 | 12 | 6.3 | Largest resected. Next dominant lesion growth by 4 cm | 8 |
| 34 | 23 | M | GSD Ia | R83C/Q347X | 13 | 1,082 ± 301 | 6 | 3.6 | Largest resected, other adenomas small with slow growth | 9 |
| 35 | 23 | M | GSD Ia | R83C/R170Q | 17 | 596 ± 353 | 6 | 6.0 | Largest resected after it grew by 5 cm, other adenomas small with slow growth | 9 |
| 36 | 22 | M | GSD Ia | R83C | 10 | 555 ± 198 | >20 | 5.3 | Largest resected, other adenomas continue to grow with new lesions appearing | 9 |
| 37 | 56 | F | GSD Ia | ??/Q347X | 45 | 725 ± 387 | 3 | 1.7 | Prior liver transplant, no new lesions | 5 |
| 38 | 41 | F | GSD Ia | R83C | 19 | 202 ± 3 | 4 | 7.1 | Unknown | 1 |
| 39 | 29 | M | GSD Ia | R83C | 18 | 1,044 ± 514 | 2 | 2.1 | Unknown | 0 |
?? unknown