The Long Journey To Being Diagnosed As A Carrier Of Hemophilia A - A Woman With Abnormally Prolonged Bleeding After Myocardial Infarction

Hemophilia A is caused by a deficiency of factor VIII (FVIII). The disease results from mutations in the FVIII gene which are heterogenous both in type and position within the gene. Carriers of hemophilia A are often admitted with normal clotting factor VIII levels, but occasionally also report a considerable tendency to bleeding. It has recently been found that decreased concentrations of factor VIII and IX in carriers of hemophilia A and B are associated with favorable effects on blood coagulation and hemostasis which contributes to cardiovascular protection and a decreased mortality from ischemic heart disease [1]. In this report, we report the case of a woman who was first diagnosed at the age of 60 years as a carrier of hemophilia A. She was suffering from abnormally prolonged bleeding after an angiographic intervention that was performed due to a myocardial infarction. The patient had a noticeable history of bleeding events since childhood. A one stage method was used to test for factor VIII activity (Instrument ACL 300, normal range: 64 %–167 %). The fact that the patient was a carrier of hemophilia A was confirmed by analysis of the factor VIII gene mutation (performed by PD. Dr. J. Oldenburg, Würzburg/Frankfurt). The patient was born in 1943. The patient was suffering since childhood from bruising and nose bleeds. Due to abnormally long and heavy menstrual bleedings, she had suffered from several abrasions of the uterus. Life-threatening bleedings occurred twice after operations: after teeth extraction and after surgical procedures on the cervical spinal column. In an emergency case, she had to be treated by tracheostoma due to acute dyspnea. Bleeding stopped just a few days after receiving a large number of blood transfusions. Furthermore, heavy bleeding after delivery was reported following two pregnancies. In 2001, she suffered from acute myocardial infarction and heavy bleedings occurred after angiographic intervention. The tendency towards bleeding did not change during the course of years. There is no known history of hemophilia or other bleeding diseases in her family. Laboratory investigations showed normal values of PT (101 %), aPTT (36 sec), fibrinogen (272 mg %) and thrombocytes (244000 µl). The FVIII activity was lower than normal at 44 % (normal level: 64–167 %). A test for a FVIII gene mutation was carried out, and a missense mutation Thr2291IIe (6929C>T) was found. Additionally, the level of plaminogen activator inhibitor-1 (PAI-1) activity was also lower than normal, which could have intensified the bleeding tendency (PAI