Hemophilia Practice Pearls Takeaways: Determining Goals of Therapy


Hemophilia is a rare disorder affecting about 20,000 individuals in the United States. Due to insufficient blood clotting proteins, or blood clotting factors, the blood does not clot normally. The complications of improper care can be severe. In a Pharmacy Times® Practice Pearls video series, am expert panel provides a thorough understanding and best practices for the treatment of hemophilia.

The panel is comprised of Luigi Brunetti, PharmD, MPH, BCPS, BCGP, associate professor, Rutgers University Ernest Mario School of Pharmacy, and Robert Wood Johnson University Hospital, Somerset, New Jersey, moderates a discussion on best practices for hemophilia treatment. He is joined by Robert F Sidonio, Jr, MD, medical director of Hemophilia, Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, and assistant professor of pediatrics, Emory University School of Medicine, Atlanta, Georgia; and Giles W. Slocum, Pharm.D., BCCCP, clinical pharmacy specialist, Emergency Medicine, Rush University Medical Center in Illinois.

Practice Pearl 1: Identifying severity of disease and determining goals of therapy

Both hemophilia A and hemophilia B are an X-linked recessive disorder, primarily affecting males. The panel noted there are some situations in which females may lionize and express the disorder, or if they have Turner syndrome. Hemophilia A affects approximately 1 in 5000 males in the United States, whereas hemophilia B affects approximately 1 in 25,000 males.

“You don't know who's going to have the spontaneous mutation,” Sidonio said. “In about a third of the cases, there may be no family history at all because it may skip generations because it has only unaffected males in it.”

Brunetti said the first step in identifying the appropriate patients for prophylaxis is understanding the breadth of severity. The panel said the traditional severity regimen—in which less than 1% factor VIII, either measured by a chromogenic or 1-stage factor assay, is considered severe—are systems that were created decades ago and may be revised in the future.

“It's generally what we have and then moderate hemophilia is 1% to 5% factor VIII, and then greater than 5% to 50% factor VIII is considered mild hemophilia,” Sidonio said. “So the current standard is that the recommendation for prophylaxis is all severe patients, those who have no measurable factor VIII, should be started on some preventive or prophulactic factor regimen when we talk about hemophilia A.”

The panel noted that depending on where patients are in the continuum of severity, individuals typically present with large joint bleeds and muscle bleeds.

"In the care of pediatric patients, we pretty much avoid any use of (non-steroidal anti-inflammatory drugs). What's interesting is when we see our adult colleagues, it's not unusual to see them on ibuprofen, for example,” Sidonio said. “There are very limited data on the utilization of that. And in certain circumstances, it's probably relatively safe. But chronic use obviously could lead to adverse effects like gastrointestinal [GI] bleeding and could make their bleeding symptoms worse, particularly in adults who may or may not be on prophylactic factor therapy.”

Brunetti noted that there are different strategies caring for these patients—primary, secondary, and tertiary prophylaxis, but various factors determine which patients are the right candidates for starting prophylaxis.

The general recommendation is before age 3 and after their first joint bleed. We often are starting around age 2 at our center. It's just technically difficult to do,” Sidonio said. “If anybody has children, you can imagine having a toddler and saying, ‘Yes, let's do prophylaxis.’ And you're going to have to hold them down, have 2 people hold them down because they become incredibly strong when you hold a child down. Starting an intravenous [IV] medication, and doing that 2 to 3 times a week, that's very technically difficult.”

Sidonio added that these treatment regimens can be particularly difficult for some children, while other are able to better handle it.

“You just have to get the child used to the regimen because it's very emotionally draining,” he said. “Some kids will sit there and you can stick them, and it's amazing. And other kids, they scream every time, even if it's their 50th attempt at doing it. They've been doing it for 3 years and they scream every time.”

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