A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome

Özdemir, Nihal; Çelik, Emre; Başlar, Zafer; Çelkan, Tiraje

doi:10.5152/tpa.2014.1071

Cited by 7 publications

(8 citation statements)

References 7 publications

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“…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. [38][39][40][41] While the absolute numbers of platelets are normal, platelet aggregation is compromised due to a reduced number or absence of platelets dense bodies or α-granules.…”

Section: Hematologymentioning

confidence: 99%

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Hermansky–Pudlak Syndrome

Rojas

Young

2020

Semin Respir Crit Care Med

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Hermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Recessive mutations or disruptions in HPS genes alter the function of HPS proteins which are components of biogenesis of lysosome-related organelle complexes and are critical for intracellular protein trafficking. Diagnosis and management of HPS-related comorbidities represent a challenge to physicians, and a multidisciplinary clinical approach is necessary for early detection, health management, and surveillance of PF in patients with HPS types 1, 2, and 4. Treatment options for individuals with HPS-PF include pirfenidone and lung transplantation. In this article, we describe the epidemiology, genetics, clinical manifestations, and management of HPS.

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Section: Hematologymentioning

confidence: 99%

“…44 Notably, other coagulation profile parameters including prothrombin time and partial thromboplastin time are typically normal in HPS. 37…”

Section: Hematologymentioning

confidence: 99%

Hermansky–Pudlak Syndrome

Rojas

Young

2020

Semin Respir Crit Care Med

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“…This may explain the bleeding diathesis in patients with this syndrome. Previous studies have reported multiple skin bruises and increased bleeding times in patients with HPS …”

Section: Introductionmentioning

confidence: 91%

“…Previous studies have reported multiple skin bruises and increased bleeding times in patients with HPS. 6,7 Female patients with the HPS Syndrome have complained of menometrorrhagia during their monthly cycles, 2 and a significant number them need gynecologic surgical interventions as treatment for abnormally abundant menstrual bleeding events. In addition, the use of prophylactic blood transfusion and desmopressin (DDVAP) before delivery has been reported in female patients with the syndrome.…”

Section: Introductionmentioning

confidence: 99%

Bleeding assessment in female patients with the Hermansky‐Pudlak syndrome—A case series

Rivera‐Concepción

Acevedo‐Canabal

Burés

et al. 2019

European J of Haematology

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Introduction The Hermansky–Pudlak syndrome (HPS) is an autosomal recessive rare disorder characterized by oculocutaneous albinism, bleeding diathesis, chronic granulomatous colitis and/or pulmonary fibrosis. HPS is the most common single‐gene disorder in Puerto Rico with a prevalence of 1:1,800 in the Northwest of the island. Risk of menorrhagia and post‐partum hemorrhage (PPH) in cases of women with HPS have been described in the medical literature, but data regarding comprehensive description of bleeding diathesis remains lacking. For this reason, we aim to identify bleeding events using the International Society on Thrombosis and Hemostasis Bleeding Assessment Tool (ISTH‐BAT), a standardized quantitative tool that translates the range of severity of bleeding symptoms into a cumulative bleeding score (BS). Objective To use the ISTH‐BAT in HPS in order to describe bleeding symptoms and allow for comparison with other inherited bleeding disorders. Methods Puerto Rican females and adult participants with HPS based on genetic linkage were enrolled. The ISTH‐BAT was administered and results were identified using descriptive statistical analysis. Results Questionnaire answers of twelve women with HPS‐1 and HPS‐3 were evaluated. Participants’ mean BS was HPS‐1 (11.4) and HPS‐3 (8.0) Participants with HPS‐1 and HPS‐3 reported abnormal bleeding events that presented during dental extractions, menorrhagia, surgical interventions, gastrointestinal, oral cavity and post‐partum. Patients with history of pulmonary fibrosis (PF) showed a higher mean bleeding score than those who had no history of PF. Conclusions Female patients with HPS type 1 and 3 experienced abnormal bleeding events according to the ISTH‐BAT bleeding score. Bleeding medications were inconsistently used and varied independently from healthcare professionals. The benefits of this study were to understand the history of bleeding complications in patients with HPS type 1 and 3 using an international validated system. The results of this study will help design strategies to improve the care we provide to this population.

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“…Aspirin--like defects) (16), motnje skladiščenja substanc (angl. "storage-pool" disease) v gostih trombocitnih zrncih (sindrom Hermansky-Pudlak (17,18), sindrom Che di ak-Higashi (17,(19)(20)(21), in Grisellijev sindrom (17)), motnje skladiščenja substanc v zrncih alfa (sindrom ARC (angl. arthrogryposis, renal tubular acidosis, cholestasis) (17,22)) in motnje izločanja substanc iz zrnc trombocitov.…”

Section: Pmdt Z Normalnim šTevilom Trombocitovunclassified

Sodobni pristop za diagnosticiranje prirojenih motenj delovanja trombocitov

et al. 2016

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Inherited platelet function disorders (IPFD) comprise a heterogeneous group of diseases. Their real frequency is probably underestimated as in many patients with excessive subcutaneous and mucosal bleedings the disorder has not been recognized. The presented diagnostic recommendations are based on a systematic review of the scientific literature and describe the role of platelets in the clotting process and the most common congenital disorders of platelet function. A diagnostic algorithm for clinical and laboratory stepwise management of patients with IPFD is presented.

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A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome

Cited by 7 publications

References 7 publications

Hermansky–Pudlak Syndrome

Hermansky–Pudlak Syndrome

Bleeding assessment in female patients with the Hermansky‐Pudlak syndrome—A case series

Sodobni pristop za diagnosticiranje prirojenih motenj delovanja trombocitov

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