WASHINGTON - The news is grim: Ten years after government approval of the first sickle cell treatment, only a tiny fraction of patients use the drug - despite new research showing the disease is far more painful than doctors ever suspected.
Ignorance on the part of both physicians and patients is to blame for underuse of hydroxyurea, concludes an expert panel convened by the National Institutes of Health.
Worse, there's no other treatment in the pipeline for a disease that afflicts up to 100,000 Americans, most of them black - not only shortening their lives but causing regular pain attacks so severe that they frequently require long hospitalizations.
There are a few bits of hope on the horizon. Hospitals around the U.S. just began a long-awaited study to see if the same ingredient that powers the impotence drug Viagra may prevent death from a leading sickle cell killer, lung damage known as pulmonary hypertension.
Other researchers are testing if inhaling nitric oxide could stem pain attacks. And scientists are developing ways to improve sickle cell survival through bone-marrow transplants that have helped some children but that typically are too risky for adults.
Still, that work is centred in a handful of specialty hospitals - far removed from the day-to-day struggles of sickle cell sufferers, who often show up in emergency rooms desperate for pain relief only to be falsely stigmatized as narcotic-seekers.
"It's sort of amazing how ignored this disease is," says Dr. Sophie Lanzkron of Johns Hopkins University in Baltimore, which this month opened a special clinic to handle those pain crises that already has begun reducing emergency room visits.
"The whole idea that the first genetic disease described to man has just one FDA-approved medication, it's just amazing."
Sickle cell is a devastating inherited disease of deformed red blood cells that can't carry enough oxygen, common among people with ancestors from Africa, Latin America, the Middle East and the Mediterranean.
It causes oxygen-carrying hemoglobin - the stuff that gives blood its colour - to clump inside red blood cells. The clumps change the normally soft, round cells into a sickle shape that can't squeeze through tiny blood vessels. Beyond that pain, patients suffer infections and eventually organ damage. They frequently live only into their 40s.
Doctors have long measured sickle cell's severity by how often patients seek care for pain crises. But last month, Virginia Commonwealth University researchers reported stunning evidence that that practice downplays the disease: Patients recorded their pain levels daily - showing more than a quarter were in pain on 95 out of every 100 days. Yet most toughed out even severe, crisis-like pain at home, reserving doctor and hospital visits for just the most intense episodes.
Now contrast that suffering with the NIH panel's findings: Roughly half of adolescent and adult sickle cell patients are candidates for hydroxyurea, an old and inexpensive anti-cancer pill - costing less than $100 a month - proven to dramatically reduce sickle cell pain crises, hospitalizations and some organ damage. It may even prolong survival. Yet few use it, possibly as few as five per cent of those who qualify.
Why? There aren't better treatments. The main alternatives are regular blood transfusions, and intravenous narcotic painkillers plus fluids to ease pain crises.
Instead, the panel found:
-Few patients are treated by specialists in sickle cell while concerns about hydroxyurea's side-effects have been overblown - both among patients and among general physicians who either don't know about or don't heed national prescribing guidelines, says Dr. Otis Brawley, an Emory University hematologist who led the panel.
The drug can cause temporary drops in some types of blood cells, making patients vulnerable to infection or bleeding. So doctors carefully monitor patients beginning treatment, lowering the dose if needed. Also, a theoretical risk of birth defects requires contraceptive use.
But other fears - that it can cause cancer or slow children's growth - have proved unfounded, stresses Brawley.
-The drug is formally approved just for adolescents and adults, while sickle cell can be particularly hard on children. Small pediatric studies suggests it works in youngsters, too, but a larger study nicknamed Baby HUG is now under way to prove that in children under two.
-It can take up to six months for hydroxyurea to improve health, and some patients give up too soon.
-And too often, teenagers who did well with the drug fall out of treatment as adults, when they lose insurance and access to pediatric sickle cell clinics.
"It's a disease that has not gotten enough attention," says a frustrated Brawley. "We need to start stressing how do we get optimal care to a group of individuals who deserve it because they are human beings who are suffering."
