Table 4.
Summary of Clinical and Diagnostic Features of Selected Diffuse Cystic Lung Diseases
| LAM | PLCH | BHD | LIP/FB | Amyloid | LCDD | |
|---|---|---|---|---|---|---|
| Personal history | Pneumothorax, angiomyolipomas, chylous effusions, and cortical tubers, seizures, skin lesions if TSC | Pneumothorax, smoking | Pneumothorax, skin lesions, renal tumors | HIV, autoimmune diseases, sicca symptoms, Raynaud's phenomenon | Sicca symptoms, autoimmune diseases | Lymphoproliferative disorders |
| Family history | TSC | Not relevant | Pneumothoraces, skin lesions, renal cancers | Not relevant | Not relevant | Not relevant |
| Extrapulmonary manifestations & other associations | Renal angiomyolipomas, chylous effusions, TSC manifestations | Diabetes insipidus, cutaneous & osteolytic bone lesions | Renal tumors, skin fibrofolliculomas | SS & other CTDs, HIV, EBV, CVID | SS & other CTDs, systemic amyloidosis | Lymphoproliferative disorders, renal failure |
| Laboratory testing | Serum VEGF-D | Serum & urine studies for diabetes insipidus | Genetic testing for FLCN mutations | Polyclonal dysproteinemia | Monoclonal dysproteinemia | Lymphoproliferative disorders, renal failure |
| Diagnostic yield of bronchoscopy (BAL, TBBx) | >50% | 30–50% | 0 | Low yield | Low yield | Low yield |
| Consider surgical lung biopsy | Yes | Yes | No | Yes | Yes | Yes |
| Genetic testing | TSC mutations, but usually not clinically indicated | BRAF mutation | FLCN gene mutation | No | No | No |
| Treatment | Sirolimus | Smoking cessation, immunosuppression, cladribine | None available | Corticosteroids & other immunosuppressive agents for LIP | None available | None available |
Definition of abbreviations: BAL = bronchioalveolar lavage; BHD = Birt-Hogg-Dubé syndrome; BRAF = v-Raf murine sarcoma viral oncogene homolog B; CTD = connective tissue disease; CVID = common variable immune deficiency; EBV = Epstein-Barr virus; FB = follicular bronchiolitis; FLCN = folliculin; LAM = lymphangioleiomyomatosis; LCDD = light-chain deposition disease; LIP = lymphoid interstitial pneumonia; PLCH = pulmonary Langerhans cell histiocytosis; SS = Sjögren syndrome; TBBx = transbronchial biopsy; TSC = tuberous sclerosis complex; VEGF-D = vascular endothelial growth factor-D.