Living with Norum disease
An inherited condition, also called complete LCAT deficiency, that mainly affects the eyes and kidneys and can cause anemia.
Understanding Norum disease
The clear front of the eyes (corneas) slowly becomes cloudy with small gray dots of cholesterol, which can appear in early childhood. Kidney disease often starts in the teen years or early adulthood and tends to worsen over time. Most people also have hemolytic anemia, in which red blood cells break down early. Some have an enlarged liver, spleen, or lymph nodes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy corneas from cholesterol deposits (corneal arcus)
- Hemolytic anemia
- Kidney disease (renal insufficiency)
- Pale skin, weakness, and fatigue from anemia
- Foam cells in the body's tissues
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 blood and bone marrow specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LCAT 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
Foundation of the National Lipid Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Foundation of the National Lipid Association
- 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
Changes in the LCAT gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: complete lcat (lecithin-cholesterol acyltransferase) deficiency; complete lcat deficiency; familial lcat deficiency; familial lecithin cholesterol acyltransferase deficiency; fld; lecithin:cholesterol acyltransferase deficiency
Patient organizations
- Foundation of the National Lipid AssociationNorum disease · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Norum disease.
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