Living with Familial type 3 hyperlipoproteinemia
An inherited condition (dysbetalipoproteinemia) in which the body can't break down certain fats normally, so they build up.
Understanding Familial type 3 hyperlipoproteinemia
Some people never have symptoms. Symptoms usually appear only when a second genetic or environmental factor raises fat levels. They may include yellowish fatty bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and fat buildup in blood vessels (atherosclerosis). It may lead to cardiovascular disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellowish fatty bumps on the skin (xanthomas)
- Fatty deposits around the eyes (xanthelasma)
- Fatty bumps in the palm creases
- Fatty lumps on tendons
- Enlarged liver
- Obesity and diabetes
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 genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in APOE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 APOE gene cause it. Most people with symptoms have two changes in the APOE gene, inherited in an autosomal recessive way, and other factors also play a role.
Also known as: apolipoprotein e deficiency; apolipoprotein e, deficiency or defect of; broad beta disease; broad-beta disease; broad-betalipoproteinemia; carbohydrate induced hyperlipemia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial type 3 hyperlipoproteinemia.
Explore research for Familial type 3 hyperlipoproteinemia
Explore actively recruiting Familial type 3 hyperlipoproteinemia studies with HealthSpark.
Find actively recruiting studies for Familial type 3 hyperlipoproteinemia 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial type 3 hyperlipoproteinemia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial type 3 hyperlipoproteinemia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial type 3 hyperlipoproteinemia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.