For people with the bleeding disorder, it’s a condition that ‘deserves more awareness.’
Hemophilia is a bleeding disorder that affects an estimated 20,000 people in the United States.
It’s a relatively rare condition, but one that has serious, even life-threatening implications for people like Rich Pezzillo.
Pezzillo, 29, was diagnosed with moderate hemophilia when he was 4 years old. One of his two brothers also has it, as did their grandfather. People with the condition are missing or have low levels of clotting factors — proteins that help blood clot.
The two most common forms of hemophilia are type A, which is caused by a lack of clotting factor VIII, and type B, which is caused by lack of clotting factor IX. The disorder usually occurs in males, though women can carry the mutant gene that causes it. Pezzillo’s mother is a carrier.
“You only need about five percent of clotting factor to function normally,” saysMichael H. Bar, MD, a hematology oncologist at Stamford Hospital in Connecticut. “People with anything greater than five percent usually don’t have the spontaneous bleeding that severe hemophiliacs do and only notice it if they have a trauma.” People with severe hemophilia have less than one percent of clotting factor.
“A person with hemophilia bleeds longer, not faster,” Pezzillo says. “Many think thatsomeone with hemophilia can die from a paper cut. That’s just not true. In fact, the bigger problems are actually with internal bleeding,” which can damage tissues and organs. Pezzillo’s brother Anthony was diagnosed with hemophilia after he had his tonsils removed and suffered extreme bleeding. That’s when the rest of the family was tested, and Rich was diagnosed.
Pezzillo, who grew up in Rhode Island but now lives in Washington, D.C., remembers that he bruised easily as a child. When he was 18, after having his wisdom teeth removed, Pezzillo’s gums began to bleed. Stitches weren’t enough to stop the bleeding, so he was admitted to the hospital and given more than 40,000 units of clotting factor — a treatment known as replacement therapy.
While in college, Pezzillo developed spontaneous bleeds in his right thigh and left hip. Joint bleeds can cause pain and chronic swelling, and sometimes require joint replacement surgery.
Pezzillo then developed one of the most serious complications of hemophilia. In roughly 20 percent of hemophilia cases, patients’ immune systems will reject the clotting factor and produce antibodies, known as inhibitors, to fight it.
“Because the clotting factors are made from artificial sources and aren’t quite human, certain patients will have their immune system see them as foreign and attack,” Dr. Bar says. As a result, the clotting factor doesn’t work.
Treatment for people with inhibitors may require higher doses of clotting factor or special blood products known as bypassing agents.
Pezzillo now treats his hemophilia prophylactically, injecting himself with clotting factor regularly. It’s costly and time consuming, but it allows him to remain active. Pezzillo, who works for the Hemophilia Federation of America, has run multiple half-marathons and one full marathon.
“People don’t have to be tethered to the hospital anymore,” he says. “But it’s still a disease a lot of people don’t know about, and it deserves more awareness from both inside and outside the medical community.