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

Abstract

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.

Hermansky–Pudlak Syndrome

“…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. 42 Prolongation in the bleeding time was used in the past to study defects in platelets aggregation in this population.…”

Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death

“…Underlying bleeding disorders frequently appears among women with menorrhagia. [23][24][25] Menorrhagia is considered as the most common, sometimes even the only symptom for patients with congenital hypofibrinogenemia/afibrinogenemia. 6,7,26 Due to different defect levels of FIB, manifestations differ from asymptomatic, mild to severe menorrhagia; significant bleeding symptoms with surgery, trauma, and pregnancy; even recurrent postpartum hemorrhage; and so on.…”