Rare Genetic Diseases: Wolman Syndrome
If infants are diagnosed with Wolman syndrome and are not treated, they can die within the first 6–12 months of their lives due to multi-organ failure. However, some infants suffering from this disease do not have severe symptoms and therefore can live undiagnosed for over 20 years.
Wolman syndrome is an autosomal recessive congenital disease characterized by an impaired metabolism of the lipids (fats), which occurs in 1:40,000 or 1:300,000 people, depending on ethnicity and geography. It is the most severe type of lysosomal acid lipase deficiency. Lysosomal acid lipase deficiency causes a build up of lipids in body organs and calcium deposits in the adrenal glands. The disease is severe and life-threatening, however enzyme replacement therapy has shown improvement of symptoms. Liver transplantation is also a form of treatment.
One of the big disadvantages when diagnosing the patient with Wolman syndrome is that the symptoms often overlap with other diseases. The symptoms in infants and young adults differ a little bit. Infants often have enlarged liver and spleen, poor weight gain, jaundice (yellowing of the skin or the whites of the eyes), vomiting and developmental delay. The symptoms in young adults include diarrhea, stomach pain, bile duct problems, enlarged liver, and yellowish deposits of fat underneath the skin.
Wolman syndrome is caused by the mutation in the LIPA gene which is only present in individuals suffering from lysosomal acid lipase deficiency. LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments called lysosomes, which digest and recycle materials the cell no longer needs. The enzyme malfunction leads to accumulation of fat in the walls of the gut and other organs. This can lead to serious digestive problems, e.g. malabsorption, frequent diarrhea.
Undiagnosed children or adults tend to die early due to a stroke or heart attack, which is caused by the fat deposits in vessel walls.
