Wolman Disease or Early onset LAL Deficiency

Most people have never heard of Wolman Disease.  It is a very rare disease that affects only 1-2 babies out of every million and is rapidly fatal before the first year.  Wolman Disease is the early onset form of Lysosomal Acid Lipase (LAL) Deficiency and is a genetic condition.  As is the case for some other genetic disease (eg cystic fibrosis) parents may not know they are carriers of the abnormal gene until they have an affected child.  If both parents are carriers, there is a 1 in 4 chance that the baby will be born with Wolman Disease.  LAL Deficiency belongs to the family of diseased called Lysosomal Storage Disorders.

For more information on Lysosomal Storage Disorders and inheritance, watch this video from the Hide and Seek Foundation and narrated by Alec Baldwin. Watch video >

Babies born with Wolman Disease are active and healthy at birth. 
Soon after, they develop signs and symptoms of the disease, which may include:
• Vomiting
• Swelling of the abdomen
• Diarrhea and sometimes oily motions (stool)
• Enlargement of the  liver and spleen
• Poor weight gain

The problem is that the body is not able to make an enzyme that breaks down fatty material.  This enzyme is called lysosomal acid lipase, but sometimes it is referred to as acid lipase or LIPA as well.  Without lysosomal acid lipase, fatty material clogs the guts, the liver and other internal organs, leading to malabsorption, growth failure and death. 

Diagnosing Wolman Disease begins with a physician’s exam and interview.  Based on the physician’s judgment, a number of tests may be ordered that examine the body’s tissues for deficient lysosomal acid lipase activity.  X-rays, ultrasound and other imaging tests may be performed as well.  During these tests, abnormalities in the adrenal gland due to accumulation of chalky material (adrenal calcification) may be noticed. These changes are unusual in other condition and help the physician make the right diagnosis. These changes are not present in every case and the diagnosis may be more difficult and take longer if adrenal calcification is not present. The patient may be referred to the hospital or a specialist for further consideration. 

Unfortunately, there is not treatment approved for Wolman Disease.  At present, medical care focuses on managing the symptoms, including the failure to grow and malnourishment due to the abnormal fat in the wall of the gut.  Intravenous nutritional support is sometimes used if bone marrow transplant is being considered.  At this time, there are no specific forms of treatment that can prevent the buildup of lipids in the gut and other internal organs. However, Synageva BioPharma has launched a clinical program to investigate a human recombinant lysosomal acid lipase as an enzyme replacement therapy for LAL Deficiency.  Other enzyme replacement therapies have been successful in treating other lysosomal storage disorders such as Gaucher Disease, Fabry Disease and Pompe Disease.  For more information on Synageva’s clinical trials, go to Synageva.com or clinicaltrials.gov.