Dr. Jayson Stoffman
Medical Director of the Manitoba Bleeding Disorders Program
Advanced therapies reduce the burden of illness and improve the quality of life for people living with a bleeding disorder
When he was a baby, Mathieu Jackson bruised easily and would often bleed from his mouth. His mom repeatedly took him to the hospital, but doctors could not find the cause. When he was almost two, Jackson had major swelling in one knee caused by internal bleeding, which led to him being tested and finally diagnosed with hemophilia B.
“Blood clotting is controlled by a series of proteins that act in sequence to create a blood clot. When you have hemophilia, you are missing one of those proteins, which means your blood takes significantly longer to clot,” says Dr. Jayson Stoffman, Medical Director of the Manitoba Bleeding Disorders Program.
Hemophilia is a rare congenital bleeding disorder characterized by a deficiency of essential blood clotting proteins, coagulation factor VIII in hemophilia A patients and coagulation factor IX in hemophilia B patients. Hemophilia A is estimated to account for 80-85% of all cases, while hemophilia B is estimated to account for 15-20% of all hemophilia cases. While hemophilia can be hereditary, in up to one-third of patients, there is no known family history. This was the case for Jackson.
Bleeding causes pain and joint damage
Hemophilia causes bleeding in the joints and muscles, including the ankles, knees, hips, elbows, wrists, and fingers. “And every time you bleed in a joint, the joint becomes more susceptible to bleeding,” Jackson says. “For example, my left ankle will bleed frequently for no reason, just from walking. That’s because I’ve had so many bleeds inside that ankle. And when you bleed, it’s extremely painful. A lot of people compare it to hitting your joints with a baseball bat.”
Every two days, Jackson gives himself an intravenous injection of factor replacement therapy. This standard half-life treatment for hemophilia is made from human plasma or genetically engineered in a lab. The factor concentrate is nearly identical to the protein lacking in the blood of someone with hemophilia. But the replacement is quickly removed from the body, which is why treatment is needed every two to three days.
We’ve stressed throughout the pandemic that it’s important for patients not to ignore issues out of fear of the healthcare system.
Treatment also includes regular monitoring by a healthcare team. Dr. Stoffman says some patients have been anxious about coming in for appointments during COVID-19. “We’ve stressed throughout the pandemic that it’s important for patients not to ignore issues out of fear of the healthcare system. COVID-19 should not be a barrier when seeking care, especially when you’re living with a chronic condition. Communication with your health care team is imperative for better health outcomes.”
Treatments lead to better control
Dr. Stoffman is excited about new treatments available, which lead to better hemophilia control and make hospital and clinic visits less necessary. Tremendous advances have been made in several aspects of hemophilia management, including extended half-life products, which stop blood loss more effectively and for longer periods, meaning patients inject the treatment less frequently. “With better control, the likelihood of bleeding is lower and patients are less likely to need to be seen in the hospital, emergency room, or clinic”, says Dr. Stoffman.
Gene therapy on the horizon
“The ultimate, which is coming is gene therapy,” says Dr. Stoffman. “There is gene therapy available for factor IX in clinical trials, which is great news for people living with hemophilia B. Factor VIII gene therapy is coming. When that works, it’s the cure. You get a single treatment and your body starts making its own protein again.”
“The idea of a life without bleeding or with one or two bleeds, it’s something I can’t even imagine. If we give future generations of people with hemophilia the potential to do more, I think we will all gain from it.”