What is Wolman Disease?
Wolman disease is a rare inherited metabolic disorder caused by a complete absence of the enzyme called lysosomal acid lipase.
Without this enzyme the body cannot metabolise certain lipids and these fats accumulate in the body causing various, debilitating complications.
Wolman disease begins in early infancy and symptoms are noticeable soon after birth.
The disease is progressive and can lead to life-threatening complications. Babies with the condition will often not survive more than a year.
Symptoms can include:
- distended abdomen
- diarrhoea and vomiting
- malnutrition caused by fatty deposits in the gut
- swelling of the liver and spleen, which may lead to umbilical hernias
- scarring of the liver
- jaundice
- anaemia
- motor deterioration
- developmental delay
- calcification of the adrenal glands, which can lead to hormonal, metabolic and immune system problems
A less severe form of Wolman that appears later in childhood or early adulthood is called cholesteryl ester storage disease (CESD).
This form is more common that Wolman but is often misdiagnosed. It can lead to an early heart attack, stroke or liver failure if left untreated.
How can stem cells help?
A successful transplant of blood-forming (haemopoietic) stem cells can restore lysosomal acid lipase levels to sufficient levels in people with Wolman disease.
This is because a transplant stimulates the bone marrow to produce healthy cells containing the enzyme.
Following transplants there have been reports of great improvement, halting of the disease progression and associated symptoms such as liver failure.
In 2006 Jerry Stein treated a girl with Wolman disease using cord blood from an unrelated mis-matched donor.
Four years following the procedure the girl reported no notable symptoms of the disease and lysosomal acid lipase function was fully restored.
Previous studies have shown that stem cell transplants are effective in treating Wolman disease, though the best method of treatment has not been found due to lack of funding and test subjects.
