Deborah Obeng-Tuudah1,2,3, Brwa A Hussein1, Amir Hakim4,5, Keith Gomez1, Rezan Abdul Kadir1,2,3. 1. Katharine Dormandy Haemophilia and Thrombosis Centre, Royal Free Hospital NHS Trust, London, UK. 2. Department of Obstetrics and Gynaecology, Royal Free Hospital NHS Trust, London, UK. 3. EGA Institute for Women's Health, University College London, London, UK. 4. Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. 5. National Heart and Lung Institute, Imperial College London, London, UK.
Abstract
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. SEARCH STRATEGY: Main databases (MEDLINE, EMBASE, Cochrane, PubMed, Web of Science Core Collection and Google Scholar) were searched from inception until June 30, 2020. SELECTION CRITERIA: Case reports/series of women with confirmed HPS. DATA COLLECTION AND ANALYSIS: A systematic review using PRISMA guidelines. Methodological quality assessment performed using adapted Newcastle Ottawa scale. MAIN 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. CONCLUSION: 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.
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. SEARCH STRATEGY: Main databases (MEDLINE, EMBASE, Cochrane, PubMed, Web of Science Core Collection and Google Scholar) were searched from inception until June 30, 2020. SELECTION CRITERIA: Case reports/series of women with confirmed HPS. DATA COLLECTION AND ANALYSIS: A systematic review using PRISMA guidelines. Methodological quality assessment performed using adapted Newcastle Ottawa scale. MAIN 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. CONCLUSION: 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.