Stem cell transplants have already changed—and saved—thousands of lives around the world. They have already been used to treat more than 70 diseases, including numerous types of malignancies, anemia’s, inherited metabolic disorders and deficiencies of the immune system and one such disease is Wolman disease.

Wolman disease is a rare inherited fat storage disorder of chromosome 10 caused by deficiency of the enzyme lysosomal acid lipase in the body. Without the enzyme, fats, including cholesterol, build up in the body tissues and become toxic. Wolman disease is very rare, with only 50 reports of the disease published in the worldwide medical literature. It affects both males and females and is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the defective gene, one from each parent, in order to develop the disorder. The condition usually results in death early in life.

Since Wolman disease is inherited, infants are born with the disorder, and begin to show symptoms within the first weeks or months of life. Symptoms may include:
• vomiting, diarrhea
• malnourishment, difficulty growing and gaining weight
• enlarged liver and spleen (hepatosplenomegaly), which causes a distended abdomen
• low muscle tone (hypotonia)
• low blood iron (anemia)
• X-ray reveals calcified adrenal glands.
• Diarrhea
• Jaundice
• Anemia
• Fatty stool
• High blood cholesterol levels
• Early death – usually during first year of life
And now with the boom of stem cells successful treatment for Wolman disease have been seen following transplantation of unrelated HLA-mismatched umbilical cord blood-derived stem cells. Umbilical cord blood was chosen as the stem-cell source because of its immediate availability and reduced tendency to cause graft-versus-host disease. The transplantation resulted in restoration of normal acid lipase levels before the onset of permanent end-organ damage. Four years after transplantation, the patient is thriving and has normal levels of acid lipase in peripheral blood cells. This is the first report of a successful unrelated cord blood transplant in a patient with Wolman disease. Umbilical cord stem cells transplantation can restore acid lipase levels in Wolman disease, and if performed early, can treat the disease.