Objective:
Having a family member with a chronic disease often increases the burden in the family with more hospital visits, treatment administration, and increased expenses. Management of hemophilia patients with inhibitors can be very complex and challenging. Health-related quality of life (HRQoL) has become a recent focus of research in hemophilia. Data on the HRQoL of congenital hemophilia patients with inhibitors and their caregivers is limited.
Methods:
We report a case study of a 36 year old male diagnosed as a neonate with hemophilia A, who, at age 6 months, developed a high titer inhibitor. His titer levels ranged from 99 BU/ml to in the thousands. Throughout a 30 year period, he experienced frequent bleeding episodes with several severe bleeds requiring extended hospitalization and intensive care management. He completed a majority of his schoolwork from a hospital bed and was unable to hold a steady job. He used factor VIII (FVIII) bypassing agents on demand to manage the bleeding episodes. As an adult, immune tolerance induction (ITI) failed with recombinant FVIII (rFVIII). QoL was poor for this husband and father of two children due to extremely limited mobility and inability to provide household income. He needed double knee replacement but insurance coverage for the surgery was denied due to the presence of the inhibitor. ITI therapy was switched to human plasma-derived FVIII with double viral inactivation (Koate-DVI) 10,000 units per day with successful tolerization in 8 months; his inhibitor was undetectable. He is currently on a prophylactic regimen of 3000 units twice a week, has not experienced any adverse events, and has had no major bleeds and only one minor bleed in 4 years.
Summary:
Successful immune tolerance induction (ITI) was achieved in a 32 year old adult male with hemophilia A with daily self-infusion of human FVIII therapy containing naturally occurring von Willebrand factor. This patient’s QoL has significantly improved since initiation of a home-based ITI protocol with Koate-DVI. He has been able to have double knee replacement surgery with major improvement in mobility and started his own successful national business.
Conclusions:
Advances in therapies continue to improve the longevity and quality of life of patients with hemophilia A. Increased or maintained HRQoL are essential goals in health care among patients with a chronic disease. This case study demonstrates the importance of well-disciplined ITI therapy with a human plasma FVIII product for hemophilia A patients with inhibitors.