Living with Familial hypobetalipoproteinemia 2
A genetic condition marked by very low levels of fats such as cholesterol and triglycerides in the blood.
Understanding Familial hypobetalipoproteinemia 2
Blood tests in people with FHBL2 show low levels of proteins that carry fats, called apolipoprotein B and apolipoprotein A-I. Total cholesterol is low (hypocholesterolemia). So are LDL and HDL cholesterol. Triglycerides may also be low.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The main findings are low blood fat levels seen on lab tests.
- Low total cholesterol (hypocholesterolemia)
- Low LDL ("bad") cholesterol
- Low HDL ("good") cholesterol
- Low levels of apolipoprotein B and A-I
- Possibly low triglycerides
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
FHBL2 is caused by changes (mutations) in the ANGPTL3 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: angptl3 hypobetalipoproteinemia; combined familial hypolipidemia; familial hypobetalipoproteinemia type 2; fhbl2; hypobetalipoproteinemia caused by mutation in angptl3; hypobetalipoproteinemia, familial, type 2
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 hypobetalipoproteinemia 2.
Explore research for Familial hypobetalipoproteinemia 2
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- Recruiting studies from ClinicalTrials.gov
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