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 and gynecological (OB/GYN) bleeding.
OBJECTIVE: To summarize OB/GYN presentations, outcomes, and management strategies in women with HPS.
METHODS: Main databases (MEDLINE, EMBASE, Cochrane, PubMed, Web of Science Core Collection and Google Scholar) were searched from inception until June 30, 2020.
METHODS: Case reports/series of women with confirmed HPS.
METHODS: A systematic review using PRISMA guidelines. Methodological quality assessment performed using adapted Newcastle Ottawa scale.
RESULTS: A total 29 pregnancies in 15 women and 2 gynecological patients were identified. Heavy menstrual bleeding (HMB), the most common bleeding symptom, was reported in 8/15 (53%) of women. HMB and post-partum hemorrhage (PPH) led to diagnosis of HPS in 5/17 (29%) women. Primary PPH was reported in 12/27 (44%) of viable pregnancies; half were major PPH. In 17 pregnancies with known HPS diagnosis, 9 had hemostatic cover with desmopressin and 8 with platelet transfusion. Major PPH occurred in 3/9 (33%) pregnancies covered with desmopressin compared with none in the platelet group.
CONCLUSIONS: Diagnosis of HPS should be considered in women with OCA presenting with HMB or PPH. Hemostatic management options include desmopressin and platelet transfusion. Management should be multidisciplinary with close collaboration between OB/GYN and hematology teams.

Historically, much controversy has existed regarding the association of inherited thrombophilias with adverse pregnancy outcomes. The current guidelines do not recommend screening unless a personal history of venous thromboembolism is present, but the authors\' survey of physician screening patterns has suggested that up to 40% of physicians may screen contrary to the current guidelines. This article summarizes the existing evidence for each inherited thrombophilia and reviews the current guidelines.