Wolman disease

Información en español Title

Other Names:

Familial Xanthomatosis; Liposomal Acid Lipase Deficiency, Wolman Type

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Metabolic disorders; Nervous System Diseases; RDCRN See More

This disease is grouped under:

Lysosomal acid lipase deficiency

Summary 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]

Last updated: 10/19/2017

Symptoms 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.

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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		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		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		0001538

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

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

Last updated: 6/2/2016

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.

Sebelipase alfa (Brand name: Kanuma) - Manufactured by Alexion Pharmaceuticals
FDA-approved indication: Indicated for the treatment of patients with a diagnosis of lysosomal acid Lipase (LAL) deficiency.
National Library of Medicine Drug Information Portal

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

BMT InfoNet provides a searchable list of transplant centers. Click on BMT InfoNet to find a list of transplant centers that are treating children with Wolman disease.
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Wolman disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations 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

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Telephone: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
E-mail: info@childliverdisease.org
Website: http://www.childliverdisease.org/
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org

Social Networking Websites

LAL SOLACE (Support Organization for Lysosomal Acid Lipase Deficiency - Advocacy, Care and Expertise)
E-mail: LALSolace@gmail.com
Website: http://www.lalsolace.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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

The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
Genetics Home Reference (GHR) contains information on Wolman disease. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
FDA Approves First Drug to Treat a Rare Enzyme Disorder in Pediatric and Adult Patients
December 8, 2015

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Are there any new therapies for Wolman disease? Is it curable? How can I find clinical trials and research studies? See answer

Have a question? Contact a GARD Information Specialist.

References References

Hoffman EP, Barr ML, Giovanni MA & Murray MF. Lysosomal Acid Lipase Deficiency. GeneReviews. September 1 2016; http://www.ncbi.nlm.nih.gov/books/NBK305870/.
Wolman disease. Genetics Home Reference. October 2007; http://ghr.nlm.nih.gov/condition/wolman-disease.
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/.
Kruer MC, Steiner RD. Lysosomal Storage Disease: Wolman Disease and Cholesteryl Ester Storage Disease. Medscape Reference. December 9 2015; http://emedicine.medscape.com/article/1182830-overview#a7.