3 strategies for coping with a delayed FCS diagnosis

Familial chylomicronemia syndrome (FCS) is an inherited metabolic disorder where the body cannot fully breakdown or store dietary fats.

As a result, people with FCS have extremely high levels of triglycerides, a type of fat that circulates in the blood and is normally stored in cells for a source of energy. Levels of triglycerides can reach ten times the normal amount. This can trigger episodes of pancreatitis (inflammation of the pancreas) as well as symptoms that affect the skin, gastrointestinal system, and nervous system.

FCS is a challenging condition to live with for several reasons. There is no cure. Due to the genetic causes of the disease, triglycerides cannot be lowered with standard cholesterol medications. While a few medications have become available in recent years, treatment options are limited, and the main treatment remains a strict, low-fat diet that requires medical supervision.

Another challenge of FCS: delays in diagnosis are common, and many people with the condition spend multiple years living with uncomfortable symptoms and visit multiple healthcare providers before receiving an accurate diagnosis.

Why are delays in diagnosis common in FCS?

Every person’s experience is different, but the main reasons for delays in diagnosis are that FCS is rare and that it often causes symptoms that overlap with more common explanations. Definitive numbers are not known, but it’s estimated to affect a few people out of every million. In addition to high triglyceride levels, common symptoms include things like abdominal pain, fatigue, GI upset, and difficulty concentrating.

Coping with delays in diagnosis

Just because delays in diagnosis are common, it does not make the situation any less frustrating for an individual or a family who has experienced a delay.

If you or a loved one is living with FCS and have experienced a delay in diagnosis or a misdiagnosis, it may be helpful to keep the following strategies in mind.

Continue with treatment

If you’ve spent any length of time dealing with recurring symptoms, repeated appointments, and no conclusive answers, it’s normal to have doubts or mistrust about the latest diagnosis.

These feelings are valid, and it’s important to acknowledge them.

At the same time, it’s important that you do not let these feelings interfere with care and treatment. FCS is a serious condition that has the potential to cause life-altering or life-threatening complications.

If you haven’t already, seek out a healthcare team with experience and expertise in treating FCS. Treatment is usually overseen by an endocrinologist or lipidologist as well as a clinical dietitian.

Keep learning about your diagnosis

Patient education is a critical part of treatment. The main treatment for FCS is following a strict low-fat diet under the guidance of a healthcare team. Whenever possible, work with a medical team that specializes in inherited metabolic disorders.

While your healthcare team is there to guide you and support you, FCS requires day-to-day self-management. Understanding fat content in foods and ingredients, how food affects triglyceride levels, and how severely elevated triglyceride levels affect the pancreas and other organs helps you understand what you are doing, and why it needs to be done.

Here are a few strategies for patient education:

• Set aside a small amount of time each week to read about FCS. Keep a reading list of articles, guidelines, or other resources. Stay informed about emerging therapies and new research.
• Keep a list of what you want to discuss with your healthcare team. Write down questions and anything you want them to explain to you. No question or topic is too basic.
• Try to connect with others who are living with FCS. The condition is rare, and other people with FCS can be a valuable source of knowledge and support. Look for online communities and patient advocacy networks.

Prioritize your mental health

Depression and anxiety are common among people with FCS. Even apart from these conditions, the psychological, social, and emotional impact of FCS deserves attention in any treatment plan.

FCS can cause recurring pain, unpredictable episodes of pancreatitis, and it demands that you follow a highly restrictive diet. These are all significant challenges for a person to cope with, and it helps to have strategies in place.

Make your mental health a regular topic with your healthcare providers.

• Keep a journal to track how you are feeling day to day, with notes on mood, your symptoms, what has been difficult, and what has gone well. This can help you and your healthcare team identify unmet needs in treatment.
• Again, consider participating in a support group, where you can connect with others who understand the challenges of living with FCS.
• Work with a mental health professional, such as a therapist, counselor, or social worker. This can be a valuable member of a healthcare team.
• Make time for relationships, personal goals, hobbies, and activities that bring you a sense of normalcy and happiness.
• Relaxation practices, mindfulness, and meditation are also worth considering.