Blood Relations
Advances in hemophilia treatment and careful case management allow patients to lead healthy, active lives

By Janet Wells
July 21, 2003

When Stanley Horyza had an internal bleeding episode in his kidney recently, his first reaction was to pick up the phone and call his nurse.

Horyza, 28, has hemophilia, but is adept at managing his disease: In high school, he was a member of the varsity swim team; he works full time as an office manager at H&R Block; he’s married with a 4-year-old daughter. But living with a serious blood disorder means things can easily go wrong, and when he has a question, Maryellen O’Leary, RN, is on the other end of the line.

O’Leary is patient care coordinator at the Alta Bates Adult Hemophilia-Hemostasis Program in Berkeley, Calif., and is one of an estimated 150 to 300 nurses who specialize in treating the nation’s 20,000 hemophiliacs. Hemophilia is a rare blood disorder caused by a deficiency in one of the blood clotting factors, resulting in excessive bleeding. Although small wounds and punctures usually are not a problem, uncontrolled internal bleeding can result in pain and swelling, as well as permanent damage to joints and muscles.

O’Leary describes herself as the go-between, a bridge between her clinic’s 170 patients and the lone on-site physician. She spends about half her time working directly with patients, doing assessments and evaluating bleeding episodes, and the other half coordinating treatment with physicians, surgeons and dentists, doling out advice over the phone and facilitating insurance coverage.

Horyza visited O’Leary at the clinic in May for a preop knee replacement surgery consultation. Although the San Jose, Calif., resident is a “severe” hemophiliac—someone who has less than 1 percent clotting factor—he is one of “our success stories,” O’Leary said.

“When you look at [a hemophilia patient’s] joints, even at age 28, there’s a spectrum of damage. He’s got good muscle tone, flexible joints,” O’Leary said.

After Brad Lewis, MD, examined Horyza, O’Leary came in, and the two had a quick discussion about Horyza’s postsurgery rehabilitation. O’Leary advised him to take a high blood-clotting factor dose before any physical therapy on his knee to avoid any bleeding episodes, and warned him that he would have to endure some “pain and aggravation” in order to develop good flexion in the joint.

Horyza said he is eager to move ahead with the surgery and to get rid of the brass-tipped cane he has relied on.

O’Leary’s clinic treats only adults—in California, hemophilia patients younger than 18 are seen in pediatric centers—and most of her patients are not as healthy as Horyza.

For hemophiliacs who received factor before 1990, there was a high risk from exposure to tainted blood products. The majority of O’Leary’s patients—57 percent—are hepatitis C-positive, and another 21 percent are HIV-positive.

Horyza, who is hepatitis C-positive, believes that limiting his factor infusions to times when he was at risk of a bleed from increased activity, instead of preventively every two days as some patients choose, helped keep him HIV-free. Since 1990, when the AIDS virus was identified, factor has become far safer.

Cost of care

Most people with hemophilia rely on clinics like O’Leary’s as their primary care provider. About 150 federally funded centers are in operation nationwide, with 13 in California. One of O’Leary’s administrative tasks is to help patients pay for treatment. Clotting factor products—derived from human plasma or recombinant genes—are among the most costly treatments in the world, often exceeding $100,000 a year, according to the National Hemophilia Foundation. Most patients and their families rely on a combination of private health insurance and state subsidies to cover the cost of treatment.

Patients visit anywhere from once a month to once a year for annual checkups. For patients who live far from a designated clinic, outreach programs are available. O’Leary travels to Fresno every month and is frequently on the phone coordinating care long-distance.

“I’ve got one guy who’s in the ER all the time in Fresno. He’s got factor with him, and the ER staff calls here asking what to do,” O’Leary said. “A lot of times, my patients know more about what’s happening to them than the practitioners.”

Horyza concurred, saying that he’s “very particular when [practitioners] draw blood. I bring my own tourniquet and my own butterfly needle. If someone blows my vein or bruises it, I can’t access that vein, in some cases, for a year,” he added, pointing to several veins in his right arm that he no longer can stick.

Horyza is one of an increasing number of hemophilia patients who enjoy a full life, in relatively good health. Hemophilia treatment has come a long way since the days when such patients were called “sufferers,” and their life expectancy was less than 30 years, according to the National Hemophilia Foundation.

“There’s a lot more we can do now,” said Jim Riddel, MS, CPNP, RN, a pediatric nurse practitioner in the hematology department at Children’s Hospital and Research Center at Oakland (Calif.). “We start earlier, preventing more common disabilities like joint disease. With the availability of factor products that are free of HIV and hepatitis viruses, it’s much safer now to do that.”

Nevertheless, a hemophilia diagnosis—often the first indicator is prolonged bleeding during and after circumcision—can be devastating to parents, particularly if there has been no family history of the disease.

Although hemophilia is considered a hereditary disorder, one-third of all cases occur when there is no family history of the disease, resulting instead from a spontaneous mutation. The majority of hemophiliacs are men. Hemophilia A—a deficiency in clotting factor VIII—accounts for about 80 percent of all cases, and is caused by an inherited sex-linked recessive trait with the defective gene on the X chromosome. Women are carriers of the gene, but rarely exhibit symptoms.

Riddel, who has worked with hemophilia patients for about six years, told of one mother who was shocked when she learned her son had the disease.

“There was no family history,” he recalled. “She didn’t even know what it meant. I’m impressed at how far she has come in the last two to three years. Now, she works with teachers so they are relaxed having her son in school. She and her husband both infuse him at home every other day. It’s part of their life now.”

Treatment team

One component of Riddel’s job is teaching parents about infusion—injecting clotting factor into their children’s veins. “I teach the parents how to stick their kids,” he said. “I’ve taught parents of 2- and 3-year-olds. That’s hard. It’s emotionally hard; it’s difficult to find a vein, difficult to get cooperation from a kid 85 But parents are part of a team.”

As soon as kids with the disease are old enough, Riddel starts working directly with them. Every year, he works at a hemophilia summer camp, a rite of passage for patients when they reach the age of about 7.

At the mention of hemophilia camp, Horyza grinned. “They teach you how to stick yourself,” he explained. “Then, that night at dinner, they give you your ‘Stick’ award—a decorated piece of wood. Most of us keep it. It’s precious.”

Another part of Riddel’s job is to visit schools to educate teachers and administrators about students with hemophilia. The standard is to encourage these students to participate in all but the most contact-oriented sports, like football, and manage bleeding episodes as they arise.

“[Educators] are concerned with how to approach an injury,” Riddel said. “The popular notion is that someone’s going to get cut and bleed to death. With hemophilia, you don’t bleed more; you bleed longer. It’s not like you’re gushing blood.”

Riddel advises schools to keep a supply of factor in the refrigerator in case of emergencies, and parents learn early on to carry supplies and a small cooler of factor with them everywhere.

“After Sept. 11, we had to supply everyone with letters so they could take the factor and needles on airplanes,” Riddel said.

Like many nurses who work with hemophilia patients, Riddel didn’t have a background in hematology, but “fell into” the job, after working in the ER and as a nurse clinician in infectious diseases. Because most nursing schools offer only basic information on hemophilia, he’s had to learn on the job.

“What’s nice about working in hemophilia is the [factor] manufacturers support a lot of training programs and so does the National Hemophilia Foundation. I go to some sort of hemophilia training every month,” he said. “I’ve had to become pretty sophisticated with the coagulation system.”

Because hemophilia occupies such a small health care niche, nurses in the field offer peer training and support, said Jennifer Maahs, PNP, RN, chair of the National Hemophilia Foundation’s Nursing Working Group.

“We interact a lot,” said Maahs, who works at the Indiana Hemophilia & Thrombosis Center in Indianapolis. “If I have a patient traveling to another state or who moves, we work together with other nurses for their care.”

Maahs worked with cystic fibrosis patients before moving into the hemophilia field nine years ago.

“It’s similar in some ways, but [cystic fibrosis patients’] prognosis is worse. Here, it’s the best of both worlds: [the patient continuity of] a chronic illness, with little mortality,” she said. “Some people with severe hemophilia have gone a few years without a serious bleed. We’ve had kids who have gone their whole lives without bleeding. And they are healthy, active at school, active at sports. I have one kid who’s a nationally ranked cross-country runner.

“When you think of someone with diabetes, even if you correct their blood sugar, they still have other problems,” she added. “The thing that’s exciting about hemophilia 85 if you correct [patients] properly with factor, they don’t have other problems that crop up if they don’t bleed.”