The presentation and outcomes of Hermansky‐Pudlak syndrome in obstetrics and gynecological settings: A systematic review

Background Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism (OCA). In women, it can cause life-threatening obstetric gynecological (OB/GYN) bleeding. Objective To summarize OB/GYN presentations, outcomes, management strategies in women HPS. Search strategy Main databases (MEDLINE, EMBASE, Cochrane, PubMed, Web Science Core Collection Google Scholar) were searched from inception until June 30, 2020. Selection criteria Case reports/series confirmed Data collection analysis A systematic review using PRISMA guidelines. Methodological quality assessment performed adapted Newcastle Ottawa scale. results total 29 pregnancies 15 2 patients identified. Heavy menstrual (HMB), the most common symptom, was reported 8/15 (53%) women. HMB post-partum hemorrhage (PPH) led to diagnosis HPS 5/17 (29%) Primary PPH 12/27 (44%) viable pregnancies; half major PPH. 17 known diagnosis, 9 had hemostatic cover desmopressin 8 platelet transfusion. Major occurred 3/9 (33%) covered compared none group. Conclusion Diagnosis should be considered OCA presenting or Hemostatic options include Management multidisciplinary close collaboration between hematology teams.