Table 1:
Salient features of TSC-LAM and sporadic LAM
| Characteristic | TSC-LAM | Sporadic LAM |
|---|---|---|
| Prevalence | More common | Less common |
| TSC mutations | Both TSC1 and TSC2 | Only TSC2* |
| Reported in males | Yes | Extremely rare |
| Most common mode of ascertainment | Screening | Dyspnea |
| Inheritable | Yes | No |
| Renal AMLs | 90% | 30% |
| Lymphangioleiomyomas | 10% | 30% |
| MMPH | ~40% | Very rare |
*
TSC1 mutations have rarely been reported in patents with sporadic LAM (Sato et al., 2002)
Abbreviations: AML = Angiomyolipoma, LAM = Lymphangioleiomyomatosis, MMPH = Multifocal micronodular pneumocyte hyperplasia, TSC = Tuberous sclerosis complex.