Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. Platelets 2018 Jan;29(1):91-94
Date
11/02/2017Pubmed ID
29090612DOI
10.1080/09537104.2017.1361019Scopus ID
2-s2.0-85041104511 (requires institutional sign-in at Scopus site) 8 CitationsAbstract
Hermansky-Pudlak syndrome (HPS) - characterized by the distinct clinical phenotypes of both oculocutaneous albinism and mild bleeding diathesis-is caused by mutations in genes that have crucial roles in the assembly of cellular organelles (skin melanosomes, platelet delta [dense] granules, lung lamellar bodies, and cytotoxic T-cell lymphocyte granules). Immunodeficiency, pulmonary fibrosis and granulomatous colitis are associated with some, but not all subtypes of HPS, with varying degrees of clinical severity. We describe a patient diagnosed with platelet dense granule storage pool deficiency (DG-SPD) at age 38 years after he presented with spontaneous intracranial hemorrhage. His mild oculocutaneous hypopigmentation was subtle. In the following 27 years, he did not develop severe bleeding nor pulmonary or gastrointestinal complications. A novel homozygous c.1960A>T; p.Lys654* mutation in the HPS-5 protein gene (HPS5) was identified through next generation sequencing, (NGS) which is consistent with the patient's clinical and laboratory phenotypes. This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS.
Author List
Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK, Nichols WLAuthor
Juliana Perez Botero MD Assistant Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAged
Blood Platelets
Carrier Proteins
DNA Mutational Analysis
Hemorrhage
Hermanski-Pudlak Syndrome
High-Throughput Nucleotide Sequencing
Humans
Hypopigmentation
Male
Mutation
Phenotype
Platelet Aggregation
Platelet Count
