Living with LCAT deficiency
A rare inherited condition of fat and cholesterol processing that can cloud the eyes and affect the kidneys and blood.
Understanding LCAT deficiency
It is marked by cloudy corneas (corneal opacities). Some people also have kidney failure or a type of anemia in which red blood cells break down too early (hemolytic anemia). It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy cornea (corneal opacity)
- Lower kidney filtering (decreased glomerular filtration rate)
- Kidney failure (renal insufficiency)
- Early breakdown of red blood cells (hemolytic anemia)
- Narrowed, hardened arteries (atherosclerosis)
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 eye disease specialists, genetic specialists, hormone specialists and kidney 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- 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
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not list the specific gene.
Also known as: lcat (lecithin-cholesterol acyltransferase) deficiency; lecithin acyltransferase deficiency; lecithin cholesterol acyltransferase deficiency; lecithin-cholesterol acyltransferase deficiency
Patient organizations
- Foundation of the National Lipid AssociationLCAT deficiency · 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 LCAT deficiency.
Explore research for LCAT deficiency
Explore actively recruiting LCAT deficiency studies with HealthSpark.
Find actively recruiting studies for LCAT deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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