Wolman disease

Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids).  It is the most severe type of lysosomal acid lipase deficiency.^[1] The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene which provides instructions to make the lysosomal acid lipase.  Inheritance is  autosomal recessive.^[2] The disease is severe and life-threatening, however enzyme replacement therapy, available for the treatment of lysosomal acid lipase deficiencies, in the United States, the European Union, and Japan, have shown improvement of symptoms, including liver problems, as well as an increased life expectancy.^[3]  Liver transplantation can be considered in some cases when the liver disease is severe. Reports of treatment with bone marrow transplantation have shown mixed results, correcting the metabolic disease in a few cases, but not in others.^[1][4]

While there is not a universal cure for all individuals with Wolman disease, some therapeutic options have resulted in correction of the underlying disease process. Studies have shown that children with Wolman disease have had successful early treatment with transplantation of hematopoietic stem cells (HSCT) and umbilical cord stem cells.^[5][6] The use of HSCT is controversial as it can be associated with complications. More studies are needed to determine the overall efficacy of these treatment options.^[1]

There may be several clinical trials enrolling individuals with Wolman disease. Visit our page on getting involved in research to learn more about where to start, how to find patient registries and biobanks, and how to get involved in research. 

BMT InfoNet, a non-profit organization dedicated to providing transplant patients and their loved ones with emotional support and information, provides a searchable list of transplant centers. Click on the "BMT InfoNet" link in the previous sentence to find a list of transplant centers that are treating children with Wolman disease. 

Yes. Manufactured lysosomal acid lipase (LAL) enzyme have been aproved for use ^[7] and gene therapy and stem cell treatment is under investigation.^[4] Please visit the FDA website to learn more about current enzyme replacement therapy: FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients.

You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Wolman syndrome[ti] treatment" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search.  

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.