Rare Gastroenterology News

Disease Profile

Wolman disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E75.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Familial Xanthomatosis; Liposomal Acid Lipase Deficiency, Wolman Type

Categories

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;

Summary

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]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Adrenal calcification
0010512
Global developmental delay
0001263
Hepatic failure
Liver failure
0001399
Hepatomegaly
Enlarged liver
0002240
Nausea and vomiting
0002017
Steatorrhea
Fat in feces
0002570
30%-79% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Ascites
Accumulation of fluid in the abdomen
0001541
Cachexia
Wasting syndrome
0004326
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Malnutrition
0004395
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Adrenal insufficiency
0000846
Bone-marrow foam cells
0004333
Esophageal varix
Enlarged vein in esophagus
0002040
Fever
0001945
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    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 https://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Wolman disease. Click on the link to view a sample search on this topic.

          References

          1. Hoffman EP, Barr ML, Giovanni MA & Murray MF. Lysosomal Acid Lipase Deficiency. GeneReviews. September 1 2016; https://www.ncbi.nlm.nih.gov/books/NBK305870/.
          2. Wolman disease. Genetics Home Reference. October 2007; https://ghr.nlm.nih.gov/condition/wolman-disease.
          3. Erwin AL. The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency. Therapeutic Advances in Gastroenterology. 2017; 10(7):553-562. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484437/.
          4. Kruer MC, Steiner RD. Lysosomal Storage Disease: Wolman Disease and Cholesteryl Ester Storage Disease. Medscape Reference. December 9 2015; https://emedicine.medscape.com/article/1182830-overview#a7.

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