title: Hermansky-Pudlak syndrome: health care throughout life.
abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predisposed to interstitial lung disease. In addition, some patients with HPS develop granulomatous colitis. Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome.
authors.affiliation: Department of Medicine, Columbia University Medical Center, New York, NY, USA. sls2109@columbia.edu
authors.forename: Samuel L
authors.initials: SL
authors.lastname: Seward
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D002648:Child; D002869:Chromosome Aberrations; D003299:Cooperative Behavior; D003431:Cross-Cultural Comparison; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D004185:Disability Evaluation; D042241:Early Diagnosis; D005808:Genes, Recessive; D005838:Genotype; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D006801:Humans; D033183:Interdisciplinary Communication; D008134:Long-Term Care / Q000379:methods*; D010641:Phenotype; D010981:Platelet Storage Pool Deficiency / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D011647:Puerto Rico
keywords: Hermansky-Pudlak; albinism; platelet storage pool deficiency; standard of care