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Multidisciplinary Care For Adult Hermansky-Pudlak Syndrome Patients In Puerto Rico, Isabel Becerra, Shirley Martinez, Atencio Xavier, Torrens Jonathan, Juan Alemany, Eric Cruz, Felix Rivera Borges, Monica Egozcue, Jesse Roman, Rosa Roman

Division of Pulmonary and Critical Care Medicine Posters

Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive rare disease characterized by oculo-cutaneous albinism, bleeding diathesis due to platelet dysfunction, and is sometimes accompanied by immunodeficiency, granulomatous colitis, and/or interstitial lung disease / pulmonary fibrosis. Puerto Rico houses the highest concentration of patients with HPS, especially HPS-1, which is considered quite severe and often associated with pulmonary fibrosis. We believe that the establishment of an HPS Multidisciplinary Clinic in Puerto Rico would improve outcomes.

Methods: A multidisciplinary clinic was started in November 2018 and another was held in February 2019 at the Mayaguez Medical Center located in the Southwest region …