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Description

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 of the island. Pulmonologists, hematologists as well as gastroenterologists and a dentist staffed the clinic. Pulmonary function testing was available. Patients were identified by the HPS Network and other announcements.

Results: Thirty-six patients were evaluated during the February 2019 clinic. Gender distribution was essentially equal and most patients were 50 years of age or younger. Fifty-eight percent classified themselves as having HPS-1 and 11% as having HPS-3, but the exact mutation was not known in 31%. Of the thirty patients obtaining pulmonary function tests, 60% showed abnormal force vital capacity (FVC) with 13% showing severe dysfunction. Thirty-one percent of patients had been treated for colitis, while 58% had bleeding at some point. Most patients had not received Influenza vaccination.

Publication Date

3-10-2019

Keywords

Puerto Rico, multi-disciplinary care, Hermansky-Pudlak Syndrome

Disciplines

Medicine and Health Sciences | Pulmonology

Multidisciplinary Care for Adult Hermansky-Pudlak Syndrome Patients in Puerto Rico

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Pulmonology Commons

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