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 |