Living with Wolman disease
An inherited condition present from infancy in which the body can't process certain fats, causing fat buildup in organs.
Understanding Wolman disease
It is the most severe type of lysosomal acid lipase deficiency. Fats build up in organs, and calcium deposits form in the adrenal glands. In infants, it can cause an enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, and anemia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver and spleen
- Poor weight gain and growth
- Vomiting and diarrhea
- Fatty stools and poor food absorption
- Swollen belly
- Developmental delay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LIPA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
LAL-D Aware may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: LAL-D Aware
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with LAL-D Aware
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Wolman disease is caused by changes in the LIPA gene, which makes lysosomal acid lipase. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acid cholesteryl ester hydrolase deficiency, wolman type; acid esterase deficiency; acid lipase deficiency; acid lipase disease; cholesterol ester hydrolase deficiency, complete; deficiency of cholesterol esterase and triacylglycerol lipase
Patient organizations
- LAL-D AwareWolman disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Wolman disease.
Explore research for Wolman disease
Explore actively recruiting Wolman disease studies with HealthSpark.
Find actively recruiting studies for Wolman disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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