Young Girl with CF Improves After Pancreas Removal with Cell Transplant, Case Report Says

A young girl with cystic fibrosis (CF) and acute recurrent pancreatitis was able to eat some food normally and experienced relief of her abdominal symptoms after undergoing a complete removal of her pancreas and a transplant of pancreatic cells into her liver, according to a case report.

At 4 years old, she is reportedly the youngest patient with CF to ever have this procedure for acute recurrent pancreatitis, the researchers said in the study, titled “Total pancreatectomy with islet autotransplantation in a pancreatic-sufficient cystic fibrosis patient” and published in the Journal of Cystic Fibrosis.

Pancreas inflammation is a rare complication that affects 0.5–1.8% of all CF patients and can cause severe abdominal pain as well as affect a patient’s quality of life. It is triggered by the accumulation of mucus in the pancreas ducts, which can prevent food from being digested normally.

Treatment of chronic pancreatitis and acute recurrent pancreatitis often includes a low-fat diet, pancreatic enzyme replacement therapy, pain management therapies, and invasive endoscopic interventions to resolve the blockage.

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Patients who fail to respond to these medical approaches may have to undergo a total pancreatectomy with islet autotransplant (TPIAT), which refers to a complete surgical removal of the pancreas with infusion of the patient’s own groups of pancreatic cells that produce the digestive enzymes and hormones.

A team from Cincinnati Children’s Hospital Medical Center reported the case of a 4-year-old girl who had a chronic cough, frequent respiratory illnesses, and a failure to thrive. She had been diagnosed with CF at 2 years old after positive sweat chloride testing.

At the first evaluation, she showed symptoms consistent with pancreatic exocrine insufficiency — a lack of pancreatic enzymes that play a role in breaking down food — and poor nutrition, including excess fat in her stools and growth failure. Based on this, she was started on enzyme replacement therapy.

A screening after she was born had failed to detect any CF-related genetic mutations within a panel 23 variants. However, another genetic test confirmed she was a carrier of a clinically significant mutation in the CFTR gene, as well as of another variant of uncertain clinical significance.

An evaluation of her clinical history showed she had her first episode of acute pancreatitis at 32 months of age. At that time, her levels of lipase — a type of pancreatic enzyme that breaks down fat — were high, but two months later, she had no evidence of chronic pancreatitis.

At 3 years old, she underwent an exam called an endoscopic retrograde cholangiopancreatography, which allows clinicians to visualize the different structures of the pancreas. This showed she had normal functioning pancreatic ducts.

Still, she continued to experience monthly episodes of acute pancreatitis with severe abdominal pain and very high levels of lipase requiring hospital admission — above 28,000 units/L, where the normal range is 48–199 units/L.

At this point, the clinical team considered doing a TPIAT, but the girl’s liver was too small to safely and effectively do the procedure.

Several attempts to increase her caloric intake via a gastrostomy tube (G-Tube) — a tube placed directly to the stomach to ease feeding — were associated with pain aggravation and feeding intolerance. At the age of 4, the girl was started on total parenteral nutrition and lipids — a special nutritional formulation given directly into the vein.

When her liver reached an adequate volume, the team was able to successfully perform the TPIAT procedure, which included the removal of the spleen, gallbladder, and appendix. Reconstruction of the connection between her liver and intestines, as well as of some portions of her gastrointestinal tract that were damaged, were also performed during the surgery, and a gastrojejunostomy tube was placed to help move food from the stomach to the intestines.

One month after surgery, the girl had been weaned off total parenteral nutrition and her weight was in the 50^th percentile. She continued to receive insulin (a hormone produced by the pancreas) injections for close to six months to prevent high blood sugar levels while the transplanted cells were effectively incorporated into her liver. She later stopped taking the insulin.

She transitioned from jejunal feeds — directly administered into the small bowel — to G-Tube feeds, and was able to eat some food by mouth and showed normal blood sugar levels as of the study’s completion. Although she still experienced mild episodes of transient abdominal symptoms, none required hospitalization.

“To our knowledge, this is the youngest patient with CF to undergo TPIAT for debilitating [acute recurrent pancreatitis],” the researchers wrote. “With more CFTR modulators [,which may restore some pancreatic function,] on the market and increasing approval for younger age groups, CF clinicians should have increased vigilance for the development of pancreatitis.”