Rare Coagulation Factor Deficiencies

Abstract

Rare coagulation factor deficiencies (RCFDs) also known as rare bleeding disorders (RBDs) include autosomal recessively inherited deficiencies of coagulation factors (F) I (fibrinogen), II (prothrombin), V, VII, X, XI, and XIII as well as combined F V+FVIII and vitamin K-dependent factors. They comprise 3-5% of all congenital bleeding disorders with a heterogeneous phenotype, and adolescent girls and women tend to be disproportionately affected. In addition to mucocutaneous bleeding which is the hallmark of these disorders, there is also a significant risk of bleeding from gender-specific hemostatic challenges during menses, pregnancy, and childbirth. These include heavy menstrual bleeding (HMB), miscarriages, post-partum hemorrhage, and other gynecological manifestations resulting in acute or chronic anemia. This has a significant impact on their quality of life, limitations in activities, and missed days from school/work affecting productivity and family/social interactions. The management of adolescent girls presenting with HMB associated with RCFDs is challenging because of phenotypic variability. Therefore, their care is best served in a specialized center with a multidisciplinary team comprising of hematologists, gynecologists, adolescent medicine specialists, geneticists, physical therapists, nurses, and social workers. In this setting care plans can be tailored as they transition from childhood into womanhood through their reproductive lifespan and beyond.