Wolman disease is the most serious expression of lysosomal acid lipase (LAL) deficiency. It is a rare genetic disorder that is characterized by complete absence of LAL enzyme. This enzyme is essential to break down certain fats in the body. Due to the absence of this enzyme fats may accumulate in the tissues and organs of the body. Symptoms of Wolman disease are:
• Serious digestive abnormalities
• Liver fibrosis
• Accumulation of fluid in abdominal cavities
• Foul smelling stools
• Hardening of adrenal gland tissue
HOW IS WOLMAN DISEASE DIAGNOSED?
Diagnosis of Wolman disease is done through blood tests and screenings. In most cases, genetic tests help in earlier detection with people who have similar medical history.
HOW IS WOLMAN DISEASE TREATED?
Medication is given to compensate for the deficiency of LAL. Team of specialists may address specific symptoms due to Wolman disease
DID YOU KNOW?
Wolman disease is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.