Living with Lysosomal acid lipase deficiency
An inherited condition in which fats and cholesterol build up in cells, usually causing liver disease, in an infant form and a milder later form.
Understanding Lysosomal acid lipase deficiency
Harmful amounts of fats build up in cells and tissues, which typically causes liver disease. There are two forms. The rarest, most severe form begins in infancy. The milder form can begin anywhere from childhood to late adulthood. Infants may have an enlarged liver and spleen, poor weight gain, jaundice, vomiting, and diarrhea.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver and spleen
- Belly pain and bloating
- Diarrhea
- Decreased liver function
- Calcium deposits in the adrenal glands
- Enlarged veins in the esophagus
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation of the National Lipid Association and 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: Foundation of the National Lipid Association, 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 Foundation of the National Lipid Association and other patient organizations
- 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
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name a gene.
Also known as: acid cholesteryl ester hydrolase deficiency, type 2; lal (lysosomal acid lipase) deficiency; lal deficiency; lald - lysosomal acid lipase deficiency
Patient organizations
- Foundation of the National Lipid AssociationLysosomal acid lipase deficiency · United States
- LAL-D AwareLysosomal acid lipase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Lysosomal acid lipase deficiency.
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