Deficiencies of factor VIII (FVIII)/von Willebrand factor (VWF) or factor IX (FIX) are underappreciated as potential reasons for heavy menstrual bleeding, recurrent nosebleeds, and easy bruising in girls and women. Bleeding is usually not attributed to hemophilia because clinically significant deficiencies in clotting factors VIII and IX are thought to only affect males. While severe hemophilia is more com-monly observed in boys and men, women with mutations in the FVIII or FIX genes (f8 or f9) may have widespread bruising and even joint bleeding. They might be heterozygotes with a hemophilic allele on one X chromosome and a normal allele on the other or rarely homozy-gotes with hemophilic alleles on both X chromosomes. If most or all of an X chromosome is missing (X-chromosome hemizygosity or Turner syndrome) and a hemophilic mutation is present on the other X chromosome, the affected woman will have a severe bleeding ten-dency. Other inherited disorders that affect women as well as men are von Willebrand disease, combined deficiencies of factor V (FV) and FVIII, and combined deficiencies of the vitamin K-dependent clotting factors. Women as well as men with autoimmune diseases or even those previously well might acquire a severe hemorrhagic disorder due to autoantibodies directed against FVIII, FIX, or VWF. Lastly, easy bruising and mildly decreased FVIII levels are occasion-ally observed in both men and women with hypothyroidism or panhy-popituitarism. The purpose of this brief review is to increase clinician awareness that these bleeding disorders can affect girls and women. An accurate diagnosis and appropriate therapy will greatly benefit patients and their families
Site / Data. J Hematol . 2024 Aug;13(4):137-141.
Title Hemophilia and Other Congenital Coagulopathies in Women
Author David Green