Table 5. [Recommended Surveillance for Individuals with Hermansky-Pudlak Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Eyes	Ophthalmologic exam incl assessment of refractive error	Annually
Skin	Skin exam for evidence of skin damage, solar keratoses (premalignant lesions), basal cell carcinoma, & squamous cell carcinoma	Annually; more frequently in persons w/concerning lesions or history of skin cancer
Pulmonary fibrosis	Pulmonary function testing	Annually in those age ≥20 yrs
High-resolution chest CT to identify pulmonary fibrosis	In young adults w/AP3B1-, HPS1-, & HPS4-related HPS generally starting at age 30 yrs w/follow up as indicated based on PFT results & symptoms; if symptoms are suggestive, earlier imaging may be indicated.
Colitis	Colonoscopy in those w/abdominal cramping, ↑ mucus in stool, & rectal bleeding	As needed
Immunodeficiency	Assessment for clinical & laboratory manifestations of immunodeficiency	At each visit

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