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FCS QOL
Familial Chylomicronemia Syndrome: Diagnosis and Impact on Quality of Life

Released: December 01, 2023

Michael Miller
Michael Miller, MD, FACC, FAHA
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Key Takeaways
  • Patients with familial chylomicronemia syndrome (FCS) have triglyceride levels that are typically at least 10 times higher than the general population.
  • A diagnosis of FCS should be considered in individuals with recurrent pancreatitis without evidence of gallstones, excessive alcohol use, or caused by certain drugs, particularly in a pediatric population.
  • A multidisciplinary team of primary care, specialty providers, a dietitian or nutritionist, and mental health providers is key in managing the psychosocial aspects of FCS.


What is familial chylomicronemia syndrome (FCS) and how does it affect patients?

FCS is a genetic disorder that causes excess accumulation of triglycerides in the blood. FCS is rare—roughly 1 in every million people are diagnosed with this disorder. We typically use a triglyceride cut off of at least 880 mg/dL, but these individuals commonly have triglycerides over 1000 mg/dL. In contrast, the average triglyceride level in the United States is approximately 120 mg/dL. Consequently, individuals with FCS have triglyceride levels that are approximately 10 times higher than in the average American.

What makes this syndrome unique is that individuals with FCS have a genetic deficiency of lipoprotein lipase, the primary enzyme involved in hydrolyzing triglycerides. If activity of this enzyme is deficient or impaired, then a fatty meal cannot be processed efficiently. As a result, particles containing these fats, known as chylomicrons, accumulate in the bloodstream. In some cases, a creamy white appearance is seen on fundoscopic eye examination (lipemia retinalis) and in very rare cases, blindness can occur. In other instances, a skin rash known as eruptive xanthomas occur over the torso. Finally, very high levels of triglycerides produce a pro-inflammatory and pro-oxidative stress milieu that may cause direct injury to pancreatic cells resulting in pancreatitis, which is the reason that many of our patients come to the hospital in the first place. In FCS, buildup of fat may also affect cognitive function, with many of our patients feeling sluggish and experiencing brain fog. This can lead to missing work, experiencing depression, or feeling socially isolated. Until they receive an official diagnosis, and even after they are diagnosed, FCS negatively impacts an individual’s quality of life.

What presenting symptoms are typically seen in FCS?

FCS presentation can be extremely variable and is often diagnosed in children. Upwards of 4 out of every 5 persons with FCS will experience at least 1 episode of acute pancreatitis, and many have recurrent episodes, which is otherwise exceedingly uncommon in a pediatric population. Others may present with vague abdominal pain and may not be diagnosed with pancreatitis or have the full-blown manifestations of FCS, but do not feel well on a daily basis. Depending on where a person lives, they may not be diagnosed with FCS for an extended period. If an individual lives in a large city, it is more likely that they will receive a timely diagnosis due to the availability of lipid experts or specialists. If they reside in a rural community, however, it may take a long time or an astute clinician to make the diagnosis.  

If you see a patient coming in with recurrent pancreatitis, it behooves the healthcare professional to identify the cause. Common causes of pancreatitis in the United States include gallbladder induced, excessive alcohol intake, poorly controlled diabetes, or medications that impair lipoprotein lipase, such as retinoids, L-asparaginase and non-selective beta blockers. But if the individual is young, they do not drink alcohol, there are no gallstones, and they’re not taking medications that may cause pancreatitis, then the most likely diagnosis is FCS.

How can a multidisciplinary team help address psychosocial issues in patients with FCS?

Fortunately, FCS is rare, but when it does occur it can have a huge impact on a patient’s overall functioning. Until recently, clinicians did not appreciate the extent of some of the other manifestations associated with FCS. Even if a patient follows a very strict low-fat diet, exercises, and takes care of themselves, they can still have symptomatic flairs.

A team-based approach is very important for patients with FCS. Cardiology, gastroenterology, and endocrinology may all work closely together to come to a diagnosis of FCS. The primary care clinician, whether they be a physician, nurse practitioner, or physician assistant/associate, may be at the front of the team monitoring the patient on a regular basis. The FCS specialist works in conjunction with the primary care healthcare professional to optimize treatment. The dietitian and nutritionist are important members of the FCS team, as they make key dietary recommendations to help minimize disease flares. You may also have a psychotherapist or a psychiatrist as part of the team to help patients deal with some of the day‑to‑day issues that come along with FCS, including depression and social isolation. A multidisciplinary team is key to optimal management of FCS.

In addition, the FCS Foundation has a superb website where patients and family members can share their journey managing this rare disease. Patients often don’t realize that they are not the only ones living with FCS since it is so uncommon. The foundation enables the creation of groups—on Facebook or Twitter, for example—for patients living with FCS to interact with each other and develop peer support. The bottom line is that there are ways that patients can feel less isolated and confer with others via such FCS support groups. This can help them engage socially, receive tips on how to manage their disease, and improve their mental health.

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