Living with Familial apolipoprotein C-II deficiency
An inherited fat-processing condition that can cause enlarged liver and spleen and inflamed pancreas.
Understanding Familial apolipoprotein C-II deficiency
It is similar to lipoprotein lipase deficiency and is also called hyperlipoproteinemia type IB. Features include an enlarged liver and spleen, pancreas inflammation (pancreatitis), and skin eruptions. It usually shows up in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Enlarged spleen (splenomegaly)
- Inflamed pancreas (pancreatitis)
- Yellowish skin bumps (eruptive xanthomas)
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 APOC2 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 APOC2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: apoc2 deficiency; apolipoprotein c-ii deficiency; c-ii anapolipoproteinemia; familial apoc-ii deficiency; familial apoc2 deficiency; hyperlipoproteinemia, type ib
Patient organizations
- National Pancreas FoundationFamilial apolipoprotein C-II deficiency · United States
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