Familial Chylomicronemia Syndrome (FCS): A Rare Genetic Disorder

Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. This syndrome affects the body’s ability to break down and absorb dietary fats, leading to severe symptoms and potentially life-threatening complications.

Understanding the Symptoms of FCS

Patients with FCS often experience severe symptoms, the most feared of which is acute pancreatitis, a potentially life-threatening condition that requires immediate medical attention. Other symptoms of FCS may include:

• Recurring episodes of pancreatitis
• Abdominal pain and discomfort
• Elevated levels of triglycerides in the blood
• Fatty liver disease
• Neurological and cognitive symptoms

Raising Awareness for Earlier Diagnosis and Management

This resource aims to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the ultimate goal of earlier diagnosis and management. By understanding the terminology, etiology, and pathophysiology of FCS, healthcare professionals can provide more effective care and prevention strategies for patients with this rare genetic disorder.

What You’ll Learn

This comprehensive resource covers:

• Terminology and definition of FCS
• Etiology and pathophysiology of the disorder
• Diagnosis and management of FCS
• Complications and prevention strategies
• Research directions for future treatment and management

By sharing knowledge and best practices, we can work together to improve patient outcomes and quality of life for individuals living with FCS.