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.
Keywords:
Hermansky-Pudlak; albinism; platelet storage pool deficiency; standard of care.
MeSH terms
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Albinism, Oculocutaneous / diagnosis
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Albinism, Oculocutaneous / epidemiology
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Albinism, Oculocutaneous / genetics
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Albinism, Oculocutaneous / therapy
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Child
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Chromosome Aberrations
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Cooperative Behavior
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Cross-Cultural Comparison
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Cross-Sectional Studies
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DNA Mutational Analysis
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Disability Evaluation
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Early Diagnosis
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Genes, Recessive
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Genotype
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Hermanski-Pudlak Syndrome / diagnosis
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Hermanski-Pudlak Syndrome / epidemiology
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Hermanski-Pudlak Syndrome / genetics
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Hermanski-Pudlak Syndrome / therapy*
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Humans
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Interdisciplinary Communication
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Long-Term Care / methods*
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Phenotype
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Platelet Storage Pool Deficiency / diagnosis
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Platelet Storage Pool Deficiency / epidemiology
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Platelet Storage Pool Deficiency / genetics
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Platelet Storage Pool Deficiency / therapy
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Puerto Rico