Rare inherited autosomal bleeding disorders in women: sex-related bleeding, pregnancy and delivery. A narrative review

Abstract

Rare inherited autosomal bleeding disorders (RAIBDs) are a heterogeneous group of coagulation diseases including rare bleeding disorders and inherited platelet disorders, characterized by a wide variability in frequency and severity of hemorrhagic symptoms. The management of women suffering from these disorders is very challenging due to sex-related bleeding, such as menstrual flow and hemorrhage events linked to pregnancy and delivery. Furthermore, in this subset of patients, there are open issues regarding the delivery mode, to preserve the newborn who could be affected by the same bleeding disorder.

The purpose of this review is to explore evidence on the management of women suffering from RAIBDs in order to guide physicians taking care of this subset of patients. 

Heavy menstrual bleeding (HMB) is often the most frequent reported symptom and the reason for referral: its lack of prompt identification can lead to a delay of diagnosis; HMB often provokes iron-deficiency anemia, with a significant reduction of quality of life. HMB treatments are limited and based on limited efficacy data. The rarity of these coagulation defects poses a challenge in the management of pregnancy and delivery, especially if the bleeding disorder is not diagnosed prior to the physiological pregnancy-associated changes in hemostasis (which make the diagnosis more difficult); a careful collection of the hemorrhagic and family history is essential. Currently, there is only limited evidence about the management of RAIBDs during pregnancy and delivery, and the present clinical practice is often based on the current local policy.