Living with Familial type 5 hyperlipoproteinemia
A rare inherited condition with high levels of certain fats (chylomicrons and triglycerides) in the blood, often with diabetes.
Understanding Familial type 5 hyperlipoproteinemia
People have high levels of two types of fat particles: chylomicrons and triglycerides in very-low-density lipoproteins. It is common to have it along with diabetes. Low activity of the enzyme lipoprotein lipase does not cause it. It usually starts in adulthood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. It notes high blood fats and that diabetes is common.
- High chylomicrons in the blood
- High triglycerides
- Often occurs along with 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 APOA5 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
National Pancreas Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: National Pancreas Foundation
- 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 National Pancreas Foundation
- 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 APOA5 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: familial apoa5 deficiency; familial apolipoprotein a-v deficiency; familial apolipoprotein a5 deficiency; familial hyperlipoproteinemia type v; familial type v hyperlipoproteinemia; fredrickson type v hyperlipoproteinemia
Patient organizations
- National Pancreas FoundationFamilial type 5 hyperlipoproteinemia · United States
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