February 17, 2017
4 min read

Group supports patients with familial chylomicronemia syndrome

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Familial chylomicronemia syndrome is a rare genetic disease caused by insufficient or impaired function of lipoprotein lipase, an enzyme responsible for triglyceride metabolism. This autosomal recessive disorder is caused by inherited mutations in the gene encoding for lipoprotein lipase or by mutations in genes that code for other proteins necessary for the enzyme’s proper function.

In patients, familial chylomicronemia syndrome (FCS) is characterized by extremely high levels of plasma triglycerides and the risk for recurrent, potentially fatal pancreatitis due to the buildup of chylomicron particles. Older terms for FCS include type 1 hyperlipoproteinemia or lipoprotein lipase (LPL) deficiency.

Pancreatic complications

Pancreatitis is an unpredictable complication of extreme hypertriglyceridemia — chylomicrons present when triglyceride levels exceed 880 mg/dL. Morbidity and mortality associated with pancreatitis occur due to local inflammation of the pancreas, leading to a generalized inflammatory response, with potential for necrosis, sepsis and multiorgan failure. Compared with other forms of pancreatitis, cases induced by hypertriglyceridemia appear to have significantly worse outcomes, including the need for intensive care, necrosis, multiorgan failure and mortality.

Lindsey Sutton (left) and Melissa Goetz launched the FCS Foundation to promote advocacy and education for patients and caregivers.

Image courtesy of FCS Foundation reprinted with permission.

Nearly all patients with FCS experience episodes of abdominal pain, with or without concurrent pancreatitis. The severity of abdominal pain can range from mild to incapacitating, and it may impede normal daily function and require hospitalization. Pancreatic damage can result in permanent exocrine or endocrine insufficiency and long-term complications that interfere with daily life and present risk for frequent hospitalizations. If sufficient damage occurs, patients with FCS can develop chronic pancreatitis, which is debilitating, progressive and incurable, with considerable impairment of patients’ well-being. Management is particularly problematic during pregnancy because triglycerides rise two- to threefold during the third trimester or if patients are being treated with estrogens.

Another effect of damage to the pancreas, specifically, to the islet cells due to inflammation of pancreatitis, can be pancreatogenic diabetes, or type 3c diabetes mellitus. The endocrinopathy of type 3c diabetes is complex, and treatment can be challenged by antidiabetic medications that have gastrointestinal-related side effects, including a risk for pancreatitis. In addition, neuropsychiatric changes have been noted in patients with chylomicronemia, including memory loss (especially for recent events), the inability to think clearly and difficulty in problem-solving. Signs may also include lipemia retinalis, eruptive xanthoma (especially over the trunk and buttock) and hepatosplenomegaly.

Because many symptoms can be associated with other diseases and conditions, including diabetes, thyroid disorders or alcoholism, FCS is often underdiagnosed or misdiagnosed. No therapies to treat FCS are currently approved; standard of care involves strictly limiting fat intake and consumption of simple carbohydrates and alcohol to try to control levels of triglycerides in the blood. Most recommendations limit intake of fat to 10 g to 20 g per day. To put that into perspective, a single pat of butter contains 8 g of fat. Currently available medications are typically not highly effective; plasmapheresis is occasionally used in urgent situations.

Effect on patients

Limited recent data show that FCS has a substantial influence on patient quality of life, including limitations on social life due to strict diet management, fatigue and pain that can affect patients’ ability to work, and physical symptoms that become more frequent as patients age. However, there remains a significant void in understanding of the condition that has presented ongoing challenges to manage patients effectively in the long term.

Given the dearth of quantifiable information related to the impact of FCS, individual assessments of patient experience continue to play an important role in clinician understanding and assessment of the syndrome and in formulating plans for syndrome management from both the patient and caregiver perspectives. The following case examples highlight these challenges.


Lindsey Sutton was diagnosed with FCS at age 5 weeks and had her first hospitalization due to pancreatitis at age 7 years. Since that time, she has been hospitalized more than 30 times due to attacks of pancreatitis; one of her pancreatitis attacks put her at significant risk for death. She takes steps to help manage the disease with a low-fat diet, but finds that her quality of life is often negatively affected by the disease. She notes that one of the biggest challenges for people living with FCS is misdiagnosis — especially during an attack of pancreatitis. She also finds that living with FCS can be difficult, causing feelings of isolation and challenges in getting appropriate medical support.

“I can remember trying to learn anything I could about FCS, but there was very little information available,” Sutton said. “I quickly realized that even my doctors often did not have enough information about FCS to help me.”

Melissa Goetz’s daughter, Giuliana, was diagnosed with FCS at age 9 months. Giuliana developed severely high triglycerides before she was 4 weeks old. She saw a series of medical specialists, including geneticists, metabolic specialists and endocrinologists. When Giuliana was first admitted to the ED with high fever and acholic stools, physicians she saw did not know how to respond. An ultrasound showed kidney infection, liver infection and pancreatitis. Although physicians could treat the infection, there were many questions regarding Giuliana’s dietary needs and long-term care management. There was no established standard of care or outline of recommended procedures to manage FCS. With help from additional specialists, including lipidologists, endocrinologists and nutritionists, Goetz was eventually able to form an action plan for her daughter. The family is managing Giuliana’s condition with a restricted diet, but the day-to-day stress of handling FCS puts a strain on the family.

“I met with so many doctors who simply did not have enough information about FCS and who did not fully understand what was happening to Giuliana,” Goetz said. “I saw firsthand the need for a better understanding of the impact of FCS on patients and families.”

To help other families, Sutton and Goetz recently joined to launch the first support organization dedicated to FCS in the United States. The FCS Foundation is now working to establish a stronger global support network to promote advocacy and education for patients and caregivers. A key component of this mission is the effort to build broader awareness of the patient experience in living with and managing FCS to help clinicians, including endocrinologists, and care partners identify effective treatment strategies and available resources.

Despite recent gains in awareness, FCS remains a genetic disorder that is frequently underdiagnosed and not fully appreciated by clinical endocrinologists. It can have a devastating impact on the lives of these patients and their families. Endocrinologists face both a challenge and an essential need to increase awareness of this syndrome and provide the necessary education and resources to continually improve care for these patients.

Disclosure: Falko reports receiving honoraria and/or consultant fees from Akcea Therapeutics, Alexion, Amgen, Kowa and Merck. Writing assistance was provided by Bill Berry and Sara Zelkovic of Berry and Company.