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Case Report
Hermansky-Pudlak syndrome subtype 5 (HPS-5): Safety of cardiac catheterization in patients with a bleeding diathesis
1 Resident, Internal Medicine, Inverness, Citrus Memorial Hospital Florida, USA
2 Attending, Internal Medicine, Inverness, Citrus Memorial Hospital, Florida, USA
Address correspondence to:
Erik Vincek
MD, 801 E Hillsborough Ct, Hernando, Florida 34442,
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Article ID: 100065Z09EV2021
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How to cite this article
Vincek E, Cruz L, Anderson S, Abernathy J. Hermansky-Pudlak syndrome subtype 5 (HPS-5): Safety of cardiac catheterization in patients with a bleeding diathesis. J Case Rep Images Med 2021;7:100065Z09EV2021.ABSTRACT
Introduction: Hermansky-Pudlak syndrome is a rare autosomal recessive form of albinism that leads to defective platelet aggregation and bleeding diathesis. This presents a potential challenge to clinicians involved in the care of these patients. Common manifestations include nystagmus, lighter skin, and hair color than family members, prolonged bleeding after minor procedures, pulmonary fibrosis, colitis, and neutropenia.
Case Report: We present the case of a middle-aged Hispanic patient diagnosed with Hermansky-Pudlak syndrome subtype 5 with prior history of extensive and prolonged bleeding who presented to the emergency department with unstable angina. He eventually required cardiac catheterization which was performed without bleeding complications.
Conclusion: In patients with previously known disease or signs and symptoms of Hermansky-Pudlak syndrome, it is important to acknowledge the hematologic risk of performing even minor procedures on these patients.
Keywords: Chediak-Higashi, Griscelli syndrome, Oculocutaneous albinism, Puerto Rico
SUPPORTING INFORMATION
Author Contributions
Erik Vincek - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Louis Cruz - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Stephen Anderson - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
John Abernathy - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2021 Erik Vincek et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
