Medical breakthrough

Jessica Nichols, 3, was diagnosed with homozygous familial hypercholesterolemia in 2004 when her family was living in Miami. The disease is characterized by an inability of the liver to properly metabolize cholesterol, leading to plaque buildup in all blood vessels and inevitable heart problems, which can include heart attacks or sudden death. The frequency of occurrence is roughly one in a million.

"Jessica started to develop yellowish scabs around her ankles, and at first, we thought it was from her sandals," said Jessica's father, Roy Nichols. "Fortunately her pediatrician was familiar with the disease and referred us to a specialist who made the official diagnosis."

The Nichols family was referred for treatment to Dr. Sarah Blumenschein, a cardiologist on the Children's medical staff who specializes in preventive cardiology and in hypercholesterolemia. When medication failed to reduce Jessica's cholesterol level from around 1,300 (the typical child's is less than 170), Dr. Blumenschein recommended plasmapheresis, a form of dialysis.

The unique form of dialysis, which removes the cholesterol saturated plasma and replaces it with fresh plasma, proved successful until Jessica had a heart attack. It was clear a more permanent solution was required to save Jessica's life, and the only therapy remaining was a transplant.

By transplanting a new liver, Jessica would receive an organ with normal low density lipoprotein receptors that could remove LDL from her blood. A heart transplant also was necessary because her heart had been weakened by heart attacks caused by deposits of LDL cholesterol in her coronary arteries.

Landmark transplant

"The transplant team explained that Jessica's elevated cholesterol level had led to a very poor heart function, which caused a heart attack, and that she required a combination heart/liver transplant," Nichols said. "Knowing that it was our little girl's last chance at a normal life, we trusted in the decision but expected a lengthy wait."

Jessica was placed on the transplant list on Aug. 11, and the next day, she was sent home with medications to try to manage her cholesterol. The Nichols family was nervous about the toll her disease would continue to inflict on her fragile body over the next weeks and possibly even months of waiting. They knew time was not on their side.

Remarkably, less than 24 hours after returning home, Children's heart transplant coordinator Joni Wells placed a call that would forever change the Nichols family's life.

"It was around 6 p.m. Sunday night, and I looked at the beeper the hospital had given us. I said, ‘why don't you just go off,' and it did," Nichols said. "Right after that, my wife's cell phone started to ring, and it was Joni. It was really unbelievable."

More than 20 physicians, nurses and support staff were involved in Jessica's surgery, which required extensive collaboration among teams specializing in pre transplant treatment, transplantation surgery and post transplant care. The combined expertise of the renowned heart and liver transplant programs at Children's made the procedure possible.

Cardiothoracic Surgeon Dr. Kristine Guleserian performed the heart transplant first. The liver transplant then was performed by Dr. Jay Roden, surgical director of liver transplantation, and Dr. Srinath Chinnakotla, surgical director of intestinal transplantation at Children's. All three surgeons are on the medical staff at Children's.

The Nichols family expected the surgery to last 12 to 14 hours, but around 10 a.m. on Monday morning, just 10 hours after Jessica had been taken from them, they had the opportunity to see their little girl.

Dr. Guleserian credits the success to great teamwork across multiple hospital departments and a very resilient little girl.

"A success story like this happens thanks to the dedication and collaboration of a group of people passionate about what they do and connected by a single goal," Dr. Guleserian said.

Delicate procedure requires sophisticated program

Dr. Roden said that the Solid Organ Transplant Program at Children's is one of the few programs in the nation capable of successfully performing a combined heart/liver transplant.

"A delicate transplant of this nature requires a comprehensive multi-organ transplant program with specialists and support staff from many disciplines," Dr. Roden said. "Many centers are able to perform each transplant individually, but only the top pediatric hospitals in the nation can complete a combined transplant successfully."

Now, just weeks after becoming the first pediatric patient in Texas to receive a new heart and liver in one operation, Jessica is heading home early after recovering ahead of schedule.

Her parents are thankful for the support they have received from Children's. "We don't have any other family in the area, so the nurses, physicians and everyone else at Children's have become a part of our extended family," Nichols said.

Resources

The Heart Center at Children's Medical Center

UT Southwestern faculty pioneered field of cholesterol metabolism

The genetic cause for familial hypercholesterolemia first was described in the 1970s by UT Southwestern physicians Dr. Joseph L. Goldstein, Professor and Chairman, Department of Molecular Genetics, and Dr. Michael S. Brown, Director of the Jonnson Center for Molecular Genetics.

Throughout the 1970s and ‘80s, the two pioneers in the field researched cholesterol metabolism and discovered that the liver has low density lipoprotein receptors that remove LDL and its attached cholesterol from the bloodstream. The lack of sufficient LDL receptors is the cause of familial hypercholesterolemia, which directly indicates cholesterol related diseases.

In the rare patients with homozygous familial hypercholesterolemia, the receptors are genetically defective, and LDL particles cannot be removed normally from the bloodstream.

The pair was awarded the Nobel Prize in Physiology or Medicine in 1985 for their discoveries concerning the regulation of cholesterol metabolism.The findings of Dr. Goldstein and Dr. Brown led to the development of statin drugs, the cholesterol lowering compounds. Today, these are the most widely prescribed medications in the United States, used by roughly 16 million American.

The Children's affiliation

Children's is an academic medical center affiliated with the University of Texas Southwestern Medical Center at Dallas.. Faculty members at UT Southwestern are members of the Children's medical staff. They conduct research that is instrumental in developing treatments, therapies and greater understanding of pediatric diseases. This research is nationally recognized for programs devoted to cancer, cardiothoracic, neonatology, kidney disease, infectious disease, pharmacology, sickle cell disease and psychiatry.

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Tags: Heart , Heart Transplant