Table 3.
Demographic Features of Selected Diffuse Cystic Lung Diseases
| LAM | PLCH | BHD | LIP/FB | Amyloid/LCDD | |
|---|---|---|---|---|---|
| Inheritance pattern | Autosomal dominant or sporadic | Not heritable | Autosomal dominant | Not heritable | Not heritable |
| Genetic mutation implicated | TSC | BRAF, MAP2K1 | FLCN | N/A | N/A |
| Nature of mutation | Somatic in S-LAM and germline in TSC-LAM | Somatic | Germline | N/A | N/A |
| Prevalence of pneumothorax, % | 70 | 10–20 | 24 | Unknown | Unknown |
| Average age at first pneumothorax | 35 | 27 | 38 | Unknown | Unknown |
| Rate of recurrent pneumothorax, % | 73 | 63 | 75 | Unknown; likely rare | Unknown; likely rare |
| Exacerbation by pregnancy | Yes | No | No | No | Unknown |
| Smoking related | No | Yes | No | No | No |
| Sex | Women ≫ men | Women = men | Women = men | Women > men | Women = men |
Definition of abbreviations: BHD = Birt-Hogg-Dubé syndrome; BRAF = v-Raf murine sarcoma viral oncogene homolog B; FB = follicular bronchiolitis; FLCN = folliculin; LAM = lymphangioleiomyomatosis; LCDD = light-chain deposition disease; LIP = lymphoid interstitial pneumonia; MAP2K1 = mitogen-activated protein kinase kinase 1; N/A = not applicable; PLCH = pulmonary Langerhans cell histiocytosis; S-LAM = sporadic LAM; TSC = tuberous sclerosis complex.