Familial Chylomicronemia Syndrome (abbreviated FCS) is a condition of very high triglycerides (a type of fat) in the blood which come from the diet. The enzyme that breaks down triglycerides from the diet is absent or does not work well, causing triglyceride levels in the blood to build up.
High triglycerides in the blood can cause episodes of pancreatitis, a painful and potentially life-threatening inflammation of the pancreas.
Although FCS is a genetic (inherited) condition, genetic testing is not required. Symptoms can vary and the age at which symptoms occur may vary. An individual can often have severe symptoms before FCS is ever diagnosed. Several identifiable symptoms can include:
- Triglyceride levels in the blood over 750mg/dL (normal triglyceride levels are under 150 mg/dL) and usually in the thousands.
- No reason, other than genetics, present for the high triglycerides. For instance: no poorly controlled diabetes, no diet high in sugar or fat, no low thyroid or kidney disease.
- Episodes of pancreatitis, often starting in childhood.
- Triglyceride levels that remain high despite taking the standard medications for triglycerides (fibrates, fish oil dietary supplements or prescription omega-3).
- Breakouts of yellowish or white bumps over elbows, buttocks, feet, and trunk (seen when triglycerides are over 2000 mg/dL).
- Stomach pain, confusion, trouble breathing, and numbness or tingling in hands and feet.
The fact that high levels of triglycerides can be associated with other health issues, such as alcohol consumption, unmanaged diabetes, or various medications, combined with the rareness of the disease, FCS is often misdiagnosed or remains undiagnosed. It is extremely important to connect with a Lipid Specialist who is trained in managing blood lipids if you have any questions or concerns.
There are currently no FDA approved therapies for the treatment of FCS.
Most patients take steps to reduce their risk of pancreatitis through lifestyle modifications including strictly limiting fat intake.
Diet & Lifestyle |
When you have FCS, the enzyme that breaks down triglycerides from the diet is absent or does not work well, causing triglyceride levels in the blood to build up. You are unable to remove these fats from your blood and you must avoid eating foods high in fat. A buildup of triglycerides in the blood can cause severe abdominal pain due to pancreatitis (inflammation of the pancreas). Sticking to a low-to-no-fat diet is essential to reduce the pain and pancreatitis risk. Download the FCS Diet Tearsheet for more helpful tips. |
Lipid Specialist |
If you have FCS or are concerned that you might have FCS, it is important to see a lipid (cholesterol) specialist. Click here to find a Lipid Specialist in your area. |
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FCS-What You Need to Know
Designed for patients, this tear sheet explains what FCS is, how FCS is diagnosed and where patients can go for more information.
Living with FCS
This tear sheet provides diet and healthy eating tips for individuals living with FCS.
Genetic Testing
Discuss the need for genetic testing with your healthcare provider. It is not necessary for most. If you have a genetic test, the result may help determine the best treatment and if any of your family members should be tested.
We are unable to supply Patient Tear Sheets in printed form. Tear Sheets are provided for your convenience and your patients and may be reproduced without modification digitally or in print with copyright and attribution information intact.
FCS Focus
The FCS Focus provides information, support, resources and FAQs on FCS. In addition, you can request a Free Guide to FCS on the FCS Focus site that can be printed or provided digitally for additional information and help.
The FCS Foundation
The FCS Foundation site is for FCS patients, caregivers and family members offering information, resources and support. The goals of the site are to build connections and offer resources and support to help FCS patients become informed advocates for themselves and their disease.
Global Genes
Global Genes® is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community.
LPLD Alliance
LPLD Alliance is the next step in working to meet the needs of patients with LPLD or one of the related conditions.
National Lipid Association
The National Lipid Association (NLA) is a nonprofit, multidisciplinary medical society focused on enhancing the practice of lipid management in clinical medicine.
National Organization for Rare Disorders (NORD)
A patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.
National Pancreas Foundation
The National Pancreas Foundation provides hope for those suffering from pancreatitis and pancreatic cancer through funding cutting edge research, advocating for new and better therapies, and providing support and education for patients, caregivers, and health care professionals.
Rare Disease Report
Rare Disease Report is a website and weekly e-newsletter that offers an independent voice for the Rare Disease Community. It strives to bring together medical, scientific, investment, regulatory, and advocate professionals interested in rare diseases and orphan drugs.