Living with Familial chylomicronemia syndrome
An inherited condition in which fat builds up in the blood, causing belly pain and pancreas inflammation.
Understanding Familial chylomicronemia syndrome
It causes pancreas inflammation (pancreatitis), belly pain, an enlarged liver and spleen, and small yellow skin bumps called eruptive xanthomas. It can appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Pancreas inflammation (pancreatitis)
- Repeated pancreatitis
- Belly pain
- Enlarged liver and spleen
- Small yellow 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.
- 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
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
- 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 LPL gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Patient organizations
- Foundation of the National Lipid AssociationFamilial chylomicronemia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial chylomicronemia syndrome.
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