Hermansky-Pudlak Syndrome: A Case Report

Abstract

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

Hermansky–Pudlak Syndrome

“…Defects in the lysosomes-related organelles system may impair the formation of platelet dense bodies, resulting in platelet dysfunction and bleeding diathesis. 35,36 The onset of bleeding is usually observed when children become ambulatory, though the severity and nature of bleeding complications may vary in severity among HPS subtypes. 37 Some patients may experience minimal or no bleeding problems, while others exhibit easy hematoma development with minimal trauma, intermittent epistaxis, gingival bleeding, prolonged menstrual periods, and dental or surgical complications during procedures.…”

Fibrosis pulmonar familiar en el síndrome de Hermansky-Pudlak

“…La patogenia de la fibrosis pulmonar apunta a la disfunción de las células epiteliales y macrófagos alveolares que, debido al tráfico intracelular distorsionado por orgánulos estresados, sufren apoptosis lo cual promueve la acumulación de fibroblastos con subsecuente depósito excesivo de matriz extracelular (18) . El grupo de genes Rab pertenece a la superfamilia de proteínas Ras y los neumocitos tipo II tienen particularmente una expresión muy intensa del Rab38, cuya mutación (BLOC-3) causa homeostasis alterada del surfactante y el desarrollo de cuerpos lamelares gigantes en las células epiteliales que con la presencia de "macrófagos espumosos" (depósitos de lipofuscina ceroide) caracterizan a la FPSHP (19)(20) .…”

Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs

“…No gross changes indicating bleeding diathesis were seen in cocoa dogs in all clinical parameters investigated. For these clinical parameters, values in the reference range were expected as these parameters are in reference ranges in humans too [ 12 , 13 ].…”