Care coordination for familial chylomicronemia syndrome

Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder that affects the body’s ability to break down fats consumed in food. It is caused by genetic variations inherited from a person’s biological parents and affects only a few people out of every million. It is characterized by very high levels of triglycerides, a type of fat that the body normally stores in cells as an energy source.

Lipoprotein lipase (LPL) is an enzyme that the body needs to break down into a form that can be stored in cells. When a person has FCS, the body cannot produce LPL or produces LPL that malfunctions. As a result, high amounts of triglycerides remain in the blood, many in the form of chylomicrons, which function like large packages of triglycerides (and a few other substances) that help transport fats throughout the body.

This can lead to serious complications, the most common being pancreatitis. This is inflammation in the pancreas, a digestive and hormone producing organ located behind the stomach. Severe cases of pancreatitis can be life-threatening and require hospitalization.

Other symptoms can affect the skin, other parts of the digestive system, and the nervous system. FCS is also associated with psychological and cognitive symptoms.

There is no cure for FCS, but treatment can help control triglyceride levels and prevent complications.

How is FCS treated and managed?

The main treatment is following an extremely low-fat diet. This is done under the guidance of a healthcare team. Your healthcare team will set targets for how many grams of fat can be consumed per day. They will also plan individualized nutritional support that compensates for the nutritional deficiencies that can occur with such a restrictive diet. A person must also avoid alcohol, sugary foods, and processed foods.

Standard cholesterol-lowering medications have no effect on triglyceride levels in people who have FCS, but several triglyceride-lowering medications for FCS have become available in recent years.

Treatment is typically overseen by a lipidologist or endocrinologist. Because the main treatment is diet, you will also work closely with a clinical dietitian.

However, the condition requires a multidisciplinary approach, where different providers with different specialties work together. Other team members can include a primary care provider, genetic counselor, endocrinologist, gastroenterologist, neurologist, and others. Pediatric specialists will be needed when treating FCS in infants, children, and adolescents.

Social workers, mental health professionals, and counselors are also valuable members of a care team.

The need for care coordination

Good communication among your different healthcare providers is critical to effective treatment and care for FCS. This is known as care coordination.

The most direct way to ensure effective care coordination is to work with a specialized team that is based at a single location, such as a hospital or medical center. Look for a program or clinic that specializes in inherited metabolic disorders.

However, access to a specialized team can be limited by where you live or other factors. Some people with FCS will need to assemble their own team of specialists who are based in separate locations. Care coordination can require more work and organization as a person or caregiver managing FCS.

Here are two strategies that may help:

Designate one healthcare provider as a point person

One healthcare provider should have an overview of your treatment, including your dietary guidelines, medications you are taking, your medical history, and contact information for all healthcare providers you are working with. This gives you a single point of contact and allows for a comprehensive look at your health. While FCS can feel like an all-encompassing diagnosis, you will have other healthcare needs as well.

Your point person may be your lipidologist or endocrinologist, or it may be a primary care provider.

Maintain a personal health record

Keeping a file of all information related to your diagnosis and treatment can support care coordination. It keeps all relevant information in one place, making it easy to find when you need to share something with a healthcare provider, visit a new specialist, or provide documentation to an insurance provider.

This is sometimes called a personal health record. It should include:

• Results of any diagnostic tests, including triglyceride panels and imaging studies (for example, imaging done on the pancreas)
• Records from hospitalizations or emergency department visits related to pancreatitis
• Evaluations and notes from your lipidologist, dietitian, and any other specialists
• A current list of all medications, doses, and any supplements you take
• Contact information for all members of your healthcare team
• Insurance information and copies of relevant financial documents, including bills, receipts, and explanation of benefits statements
• Your own notes used to prepare for appointments or written during/after appointments

It’s also recommended to keep a symptom journal, with daily notes on your symptoms, how you feel (including mood), what has been difficult, and what has gone well. This can help you and your healthcare team identify unmet needs in treatment.