They often turn up in the emergency
room in severe pain, pleading for relief. A drug that can help reduce their flare-ups is readily available — yet too rarely used.
The patients, many of them children, have sickle
cell disease, a debilitating and sometimes life-threatening blood disorder. It is relatively rare, so doctors may not know how to treat it. For patients, the results are devastating, including severe pain that often requires hospitalization and can last
A new set of guidelines for managing the disease, published recently in JAMA, the Journal of the American Medical Association, aims to change that. The report calls for stepping
up the use of preventive maintenance treatments, particularly regular blood transfusions and a drug called hydroxyurea. It also provides detailed guidance on caring for children with sickle cell and treating the disorder’s complications, which include
infections, strokes and severe anemia.
“Some of what we really know works, based on good clinical trials, is not being
provided to patients even though it could have dramatic effects on their quality of life,” said Dr. Gary H. Gibbons, director of the National Heart, Lung and Blood Institute, which convened the expert
panel that developed the new guidelines.
The problem is that sickle cell disease is comparatively rare. “Most clinicians don’t encounter it, and have limited experience and expertise,” Dr. Gibbons said.
Sickle cell disease is a genetic disorder primarily affecting people of African ancestry, though people of Hispanic, Mediterranean and Middle Eastern heritage may also be affected. The disease causes the body to make abnormal sickle or
crescent-shaped red blood cells that can block vessels, causing organ damage and pain.
It is a debilitating and life-threatening illness. Bone marrow transplants offer the hope of a cure, but are still considered experimental. Patients
have a reduced life expectancy, though they are living longer than they did in the past, experts say.
One of the report’s surprises: a clear directive to doctors to take patients at their word when they say they are in pain,
and to treat it promptly and aggressively.
The pain may be intense. “I tell people to try to imagine the worst pain they’ve ever been in, from a broken limb or a migraine,
and then try to multiply that,” said Carlton Haywood Jr., an assistant professor of hematology at the Johns Hopkins School of Medicine, who has sickle cell disease himself. “Then think about it not for an hour or a day, but for days on end.”
Yet, Dr. Haywood added, frequent requests for pain medication can stigmatize sickle cell patients as drug-addicted. Despite the widespread concern about overuse of opioids, the recommendations urge physicians caring for sickle cell
patients to use the powerful painkillers when necessary.
“We’re trying very hard to make the point that the pain is not associated with physical findings,” said Dr. George Buchanan, a professor of pediatrics at
University of Texas Southwestern Medical Center in Dallas, who helped lead the expert panel that developed the guidelines. “When the patient says they’re in pain, they deserve and should receive effective pain medication.” The drug hydroxyurea
increases the production of healthy fetal hemoglobin, making the red blood cells less stiff and rigid. Even though the drug does not cure the disease,
clinical trials found it significantly reduces crisis episodes and hospitalizations.
Still, many patients “either don’t have access to it, or don’t have access
to a doctor who’s knowledgeable or who emphasized how effective it is,” Dr. Buchanan said.
It also takes a while to work: Patients must take hydroxyurea for three months before it becomes effective. “People get
tired of taking it every day, thinking, ‘It’s not doing me any good.’ ” The drug also should not be taken during pregnancy.
Another effective treatment is regular monthly blood transfusions. Regular transfusions shut off the body’s production of sickle cells and raise the red blood count to normal, reducing the risk of anemia, Dr. Buchanan said.
Both treatments “should be considered for every patient,” Dr. Buchanan said, although both have side effects.
Dr. Michael DeBaun, director of the Vanderbilt-Meharry-Matthew Walker Center for Excellence
in Sickle Cell Disease, who wrote an editorial accompanying the paper in JAMA, criticized the panel for not soliciting input from patients and affected family members. There were no recommendations,
he noted, about bone marrow transplants, which may cure the disease.
But the authors of the new guidelines, who spent five years reviewing the scientific
evidence, said they were stymied by the relative scarcity of evidence from good randomized clinical trials.
There is little evidence about kidney disease in sickle cell patients, for example, or even about managing the pain, said
another leader of the guideline panel, Dr. Barbara Yawn, of Olmsted Medical Center in Rochester, Minn.
Dr. Yawn has been involved in developing evidence-based guidelines for other illnesses.
looked at managing asthma, there was almost too much evidence to review,” she said. “The huge take-home message with sickle cell disease is
that we desperately need more research.”