This syndrome with an autosomal recessive inheritance pattern is characterized by the presence of oculocutaneous albinism, bleeding diathesis, and alterations in different organs. It has a prevalence of 1-2:1,000,000 individuals. Ten types of HPS are recognized as secondary to mutations in genes encoding proteins involved in intracellular lysosome biogenesis. HPS types 1, 2, and 4 are associated with the presence of a form of pulmonary fibrosis similar to idiopathic pulmonary fibrosis. For other HPS types, a lower frequency and severity of pulmonary involvement has been described.
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