| Diagnosis/baseline evaluation |
Detailed personal and family history for skin lesions, pneumothorax, lung cysts and renal tumors |
| Abdominal CT/MRI to screen for renal tumors |
| Genetic counseling followed by genetic testing for BHD, consider screening family members |
| Skin exam and punch biopsy if lesions present |
| Baseline pulmonary function testing |
| HRCT scanning and review of cyst morphology and distribution by expert radiologist |
| Studies and tests to rule out alternative diagnoses, such as modified Gomez criteria, CT/MRI head, serum VEGF-D, and possible lung biopsy for LAM, SSA and SSB for Sjogrens, a1 AT for emphysema, etc. |
| Health care maintenance and follow up |
Pneumococcal vaccination and annual influenza vaccination |
| Periodic pulmonary function testing if profusion of cysts sufficient to impair lung function |
| Action plan for pneumothorax (Symptoms to recognize, TPC/pleurodesis after first event) |
| Advise regarding air travel and scuba diving |
| Annual screen for renal tumor growth |
| Dermatologic consultation for disfiguring skin lesions |
