“Before the transplant, I was in constant pain and it was always a struggle whether to stay at home or go to the emergency room,” said Adeyinka Taiwo. “Because it was just constant pain all the time. But now I actually have mornings when I wake up with absolutely no pain…I’m trying my best to wean myself off of the [pain medications] and not automatically reach for the drugs that are a part of me. It’s a big change, definitely.”
“How is your daily life different now?” Fitzhugh asked.
“I walked from the elevators to here and I’m not out of breath,” Taiwo replied, smiling and gesturing toward the Lipsett Amphitheater staircase. “Three years ago, I would never have been able to move up and down these steps and have a conversation like this. I would have been out of breath and I would have had to stop many times to catch my breath, and to rest.”
Her simple, heartfelt words prompted spontaneous applause.
Clinicopathologic (CPC) Grand Rounds are presented several times a year. Dr. Michail Lionakis of NIAID described the unique format of CPC talks, which bring together multiple presenters from various disciplines.
The sickle cell session was presented jointly by researchers from the National Heart, Lung, and Blood Institute; National Cancer Institute; National Institute of Diabetes and Digestive and Kidney Diseases; and the NHLBI-Inova Advanced Lung Disease Program.
Team work. Gathering after the lecture are (from l) senior investigator Dr. John Tisdale, who serves as medically responsible investigator on the sickle cell study; NIDDK director Dr. Griffin Rodgers, associate investigator; Dr. Swee Lay Thein, NHLBI senior investigator and head of the Sickle Cell Branch; assistant clinical investigator Fitzhugh, principal investigator on the study; Dr. Nargues Weir, co-director of research development at the NIH-Inova Advanced Lung Disease Program and pulmonary consultant; and staff clinician Dr. Matthew Hsieh, lead associate investigator.
Lionakis said the CPC series has two missions: One is educational—“Through presentation of interesting cases that have interesting clinical, diagnostic and therapeutic features, we all learn”—and the other is to showcase programs established at NIH that demonstrate “the superb clinical care and translational research that occurs in the Clinical Center.”
SCD is a common genetic blood disorder that affects about 100,000 people in the U.S. The disease is diagnosed in 1 of every 500 black or African-American births, and 1 in every 36,000 Hispanic-American births. The disease causes misshapen—sickle-shaped—red blood cells, which are the oxygen-carrying cells.
Sickled cells do not circulate freely throughout the body like normally shaped cells. As a result, patients can develop any of several conditions including chronic anemia, pain, infections and failure of such vital organs as liver, lungs and heart. Average age of death for someone with SCD is 45 years old.
“While sickle cell disease is considered a benign hemoglobinopathy,” explained NHLBI’s Dr. Matthew Hsieh, “it’s not really. It is associated with extensive morbidity and chronic complications such as liver, pulmonary and other organ system damage, and really does lead to early mortality.”
Earlier Fitzhugh described diagnostics on two SCD patients: Taiwo, who had chronic back pain, pulmonary hypertension, fatigue and had 27 hospitalizations in the past 3 years; and a 22-year-old African-American man from New York who’d had 20 to 30 blood transfusions over his lifetime with 1 to 3 hospitalizations every year. Both were evaluated at NIH for potential stem cell transplants.
Other presenters included NCI’s Dr. David Kleiner, who showed pathology findings and pointed out pre-transplant liver damage in the 22-year-old’s slides.
“In sickle cell disease,” he explained, “what happens is you get clumping of the red cells in the sinuses of the liver. The sickle shape of the cells gets hung up in the liver sinuses.” That congested cell traffic impedes forward blood flow into the liver. Back flow from heart problems or pulmonary hypertension can further worsen liver damage.
NIDDK’s Dr. Christopher Koh described liver disease associated with SCD. In the NIH study, SCD patients showing liver disease were found to be sicker, and have increased mortality risk, than the other participants.
Dr. Nargues Weir, codirector of research development with the NHLBI-Inova Advanced Lung Disease Program, talked about the three different types of pulmonary hypertension, or high blood pressure in the arteries of the lung, caused by SCD. All three types are associated with worse survival, she noted.
Hsieh concluded by presenting results from three decades of patients in studies of SCD stem cell transplantation, dating back to 1984. Disease-free survival for children undergoing full transplant is better than 95 percent with few complications, he noted.
A graphic artist whose work (shown on screen at left) has won an award, Taiwo describes her improved health at a recent Grand Rounds.
Photos: Bill Branson
Full stem cell transplantation is standard treatment for children, Hsieh said, and partial transplants can be considered standard now for adults.
“In the last decade we’ve really made good progress,” Hsieh continued. “Disease-free survival for adults undergoing partial transplant is now approaching the 90 to 95 percent mark seen in children…Our patients tell us that they feel better. They can do more and they have better stamina.” They visit the ER less and gradually are able to reduce reliance on prescription narcotics for pain relief.
The best evidence of the procedure’s success, however, gave her own testimony in person 2 years after transplant, as Grand Rounds closed.
“Well, my son knows I’m his mother now because I’m not usually in the hospital,” Taiwo quipped, referring to her active 4-year-old. “I can actually play with him, go to the playground, do normal things. He pretty much doesn’t know me when I had sickle cell. He knows me as a healthier mother…Now, I can keep my promises—when I say I’m going to be somewhere, I can actually be there.”
View the entire lecture at http://videocast.nih.gov/summary.asp?Live=16386&bhcp=1.